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Cakina, Suat, Ozgul Ocak, Adile Ozkan, Selma Yucel et Handan Isin Ozisik Karaman. « Vitamin D receptor gene polymorphisms in multiple sclerosis disease : A case-control study ». Revista Romana de Medicina de Laborator 26, no 4 (1 octobre 2018) : 489–95. http://dx.doi.org/10.2478/rrlm-2018-0028.
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Abstract Multiple sclerosis (MS) is a common neurologic disorder that is a chronic inflammatory, demyelinating, and neurodegenerative disease of the central nervous system (CNS). Its etiology remains unknown. Several recent studies have found that decreased susceptibility to vitamin D deficiency is also associated with a decreased risk of MS. The role of vitamin D receptor (VDR) gene and its polymorphisms are highlighted as susceptible components. In this study, we aimed to identify the relationship between ApaI (rs7975232), BsmI (rs 1544410), and TaqI (rs731236) gene polymorphisms with MS. ApaI, BsmI, and TaqI genotypes were determined in 70 patients with MS and in 70 control subjects. DNA was isolated from blood samples, and then ApaI, BsmI and TaqI gene polymorphisms were identified using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. The distribution of BsmI and TaqI polymorphisms did not show any significant differences in MS patients and controls; however, increased A allele of ApaI polymorphism was found in MS patients. Our findings suggest that the ApaI gene polymorphism might be associated with MS. Investigation of a larger population and functional work on these gene structures and function in MS patients are recommended.
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Steinman, L., J. R. Oksenberg et C. C. A. Bernard. « Polymorphism in MS ». Neurology 42, no 2 (1 février 1992) : 466. http://dx.doi.org/10.1212/wnl.42.2.466-b.
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Hillert, J., et O. Olerup. « Polymorphism in MS ». Neurology 42, no 2 (1 février 1992) : 467. http://dx.doi.org/10.1212/wnl.42.2.467.
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Bulan, B., AY Hoscan, SN Keskin, A. Cavus, EA Culcu, N. Isik, EO List et A. Arman. « Vitamin D receptor polymorphisms among the Turkish population are associated with multiple sclerosis ». Balkan Journal of Medical Genetics 25, no 1 (1 juin 2022) : 41–50. http://dx.doi.org/10.2478/bjmg-2022-0003.
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Abstract Multiple sclerosis (MS) is an inflammatory disease characterized by demyelination and axonal degeneration affecting the central nervous system. Among the genetic factors suggested to be associated with this disease are polymorphisms to the vitamin D receptor (VDR) gene. We tested the hypothesis that polymorphisms in the vitamin D receptor (VDR) gene are associated with MS. The aim of the study was to investigate the relationship of MS with the VDR gene Fok-I, Bsm-I and Taq-I polymorphisms among the Turkish population. This study contains 271 MS patients and 203 healthy controls. Genomic DNA was isolated from the samples and the VDR gene Fok-I, Bsm-I and Taq-I polymorphism regions were amplified by polymerase chain reaction (PCR). The PCR products were digested, and the genotypes were determined based on size of digested PCR products. Our results demonstrate associations between MS and the distribution of the VDR gene Fok-I T/T polymorphism genotype in a dominant model, VDR gene Fok-I T allele frequency, distribution of VDR gene Taq-I C/C polymorphism genotype in a dominant model and VDR gene Taq-I C allele frequency (Pearson test, p<0.05). However, there was no association between MS and the VDR gene Bsm-I polymorphisms for the genotype distribution (Pearson test, p>0.05) or allele frequency (Pearson test, p>0.05). Fok-I and Taq-I VDR gene polymorphisms are significantly associated with MS in dominant, homozygote and heterozygote inheritance models among the Turkish population.
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Gade-Andavolu, Radhika, David E. Comings, James MacMurray, Ravi K. Vuthoori, Wallace W. Tourtellotte, Rashed M. Nagra et Lawrence A. Cone. « RANTES : a genetic risk marker for multiple sclerosis ». Multiple Sclerosis Journal 10, no 5 (octobre 2004) : 536–39. http://dx.doi.org/10.1191/1352458504ms1080oa.
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Regulated upon activation, normal T-cell expressed and secreted (RANTES) is a beta-chemokine and has been detected in brain lesions of multiple sclerosis (MS) patients. Considering its potential role in MS, we screened two functional polymorphisms in the proximal promoter region of the RANTES in MS patients versus controls. Methods: We examined 140 postmortem brain samples from subjects with a primary diagnosis of MS, and peripheral blood samples from 216 control subjects. The RANTES-28C/G and -403G/A promoter polymorphisms were examined. All subjects were non-Hispanic Caucasians. Results: MS cases differed from controls showing a significant association with the 403G/A polymorphism (odds ratio, 2.359, [1.465-3.799]; P-0.0001), but not the -28C/G (P-NS) polymorphism. There was a significant association of the -28G allele with both early onset (P-0.031) and longer survival (P-0.006). Conclusion: There is a significant but complex association of the RANTES gene with MS.
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Dolcetti, Ettore, Antonio Bruno, Federica Azzolini, Luana Gilio, Alessandro Moscatelli, Francesca De Vito, Luigi Pavone et al. « The BDNF Val66Met Polymorphism (rs6265) Modulates Inflammation and Neurodegeneration in the Early Phases of Multiple Sclerosis ». Genes 13, no 2 (10 février 2022) : 332. http://dx.doi.org/10.3390/genes13020332.
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The clinical course of multiple sclerosis (MS) is critically influenced by the interplay between inflammatory and neurodegenerative processes. The brain-derived neurotrophic factor (BDNF) Val66Met polymorphism (rs6265), one of the most studied single-nucleotide polymorphisms (SNPs), influences brain functioning and neurodegenerative processes in healthy individuals and in several neuropsychiatric diseases. However, the role of this polymorphism in MS is still controversial. In 218 relapsing–remitting (RR)-MS patients, we explored, at the time of diagnosis, the associations between the Val66Met polymorphism, clinical characteristics, and the cerebrospinal fluid (CSF) levels of a large set of pro-inflammatory and anti-inflammatory molecules. In addition, associations between Val66Met and structural MRI measures were assessed. We identified an association between the presence of Met and a combination of cytokines, identified by principal component analysis (PCA), including the pro-inflammatory molecules MCP-1, IL-8, TNF, Eotaxin, and MIP-1b. No significant associations emerged with clinical characteristics. Analysis of MRI measures evidenced reduced cortical thickness at the time of diagnosis in patients with Val66Met. We report for the first time an association between the Val66Met polymorphism and central inflammation in MS patients at the time of diagnosis. The role of this polymorphism in both inflammatory and neurodegenerative processes may explain its complex influence on the MS course.
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Araújo, Eduarda Pontes dos Santos, Severina Carla Vieira da Cunha Lima, Ony Araújo Galdino, Ricardo Fernando Arrais, Karla Simone Costa de Souza et Adriana Augusto de Rezende. « Association of CYP2R1 and VDR Polymorphisms with Metabolic Syndrome Components in Non-Diabetic Brazilian Adolescents ». Nutrients 14, no 21 (2 novembre 2022) : 4612. http://dx.doi.org/10.3390/nu14214612.
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Associations between vitamin D deficiency and metabolic syndrome (MS) have been reported; however, the underlying biological mechanisms remain controversial. The aim of this study was to investigate the associations of CYP2R1 and VDR variants with MS and MS components in non-diabetic Brazilian adolescents. This cross-sectional study included 174 adolescents who were classified as overweight/obese. Three CYP2R1 variants and four VDR variants were identified by allelic discrimination. The CYP2R1 polymorphisms, rs12794714 (GG genotype) (odds ratio [OR] = 3.54, 95% confidence interval [CI] = 1.24–10.14, p = 0.023) and rs10741657 (recessive model—GG genotype) (OR = 3.90, 95%CI = 1.18–12.92, p = 0.026) were significantly associated with an increased risk of MS and hyperglycemia, respectively. The AG + GG genotype (dominant model) of the rs2060793 CYP2R1 polymorphism was associated with hyperglycemia protection (OR = 0.28, 95%CI = 0.08–0.92, p = 0.037). Furthermore, the CC genotype (recessive model) of the rs7975232 VDR polymorphism was significantly associated with a risk of hypertension (OR = 5.91, 95%CI = 1.91–18.32, p = 0.002). In conclusion, the CYP2R1 rs12794714 polymorphism could be considered a possible new molecular marker for predicting the risk of MS; CYP2R1 rs10741657 polymorphism and VDR rs7975232 polymorphism are associated with an increased risk of diabetes and hypertension in adolescents with overweight/obesity.
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Martinez-Hernandez, A., E. E. Perez-Guerrero, M. A. Macias-Islas, C. A. Nava-Valdivia, A. Villagomez-Vega, B. Contreras-Haro, Y. E. Garcia-Ortega et al. « Polymorphisms CYP2R1 rs10766197 and CYP27B1 rs10877012 in Multiple Sclerosis : A Case-Control Study ». Journal of Immunology Research 2021 (23 décembre 2021) : 1–11. http://dx.doi.org/10.1155/2021/7523997.
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Background. Multiple sclerosis (MS) is a chronic autoimmune inflammatory disease. Low vitamin D levels have been reported to be a risk factor for MS, and genetic variances could be implicated. The aim of this study was to evaluate the association of MS with rs10766197 polymorphism of CYP2R1 gene and rs10877012 polymorphism of CYP27B1 gene. The second aim was to analyse whether these polymorphisms are associated with the severity of the progression of MS. Material and Methods. In a case-control study, we included 116 MS patients and 226 controls, all of whom were Mexican Mestizo. MS was diagnosed by McDonald criteria (2017). A complete neurological evaluation was performed to evaluate the severity of disease progression. Serum 25-hydroxyvitamin D [25(OH) vitamin D] levels were measured by ELISA. Single nucleotide polymorphisms rs10766197 of CYP2R1 gene and rs10877012 SNP of CYP27B1 gene were genotyped by real-time PCR. Results. Serum 25(OH) vitamin D levels were lower in MS patients than in controls ( p = 0.009 ). No differences were observed between serum 25(OH) vitamin D levels of MS patients with severe progression compared to low progression ( p = 0.88 ). A higher frequency of the A allele of CYP2R1 rs10766197 was observed between MS patients and controls ( p = 0.05 ). No differences were observed in the frequency of T allele of CYP27B1 rs10877012 ( p = 0.65 ). In subanalysis, patients with GA + AA genotypes of CYP2R1 rs10766197 had an increased risk of MS compared to controls ( p = 0.03 ). No increased risk was observed in GT + TT genotypes of CYP27B1 rs10877012 ( p = 0.63 ). No differences were observed in allele frequencies of either polymorphism between patients with severe vs. low disease progression. Conclusion. Lower serum 25(OH) vitamin D levels were observed in MS patients than in controls, although these levels were not associated with disease progression. Carriers of GA + AA genotypes of CYP2R1 rs10766197 had an increased risk of MS. None of these polymorphisms was associated with severe progression of MS.
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Barto, Libor, et Ondřej Draganov. « The minimal arity of near unanimity polymorphisms ». Mathematica Slovaca 69, no 2 (24 avril 2019) : 297–310. http://dx.doi.org/10.1515/ms-2017-0223.
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Abstract Dmitriy Zhuk has proved that there exist relational structures which admit near unanimity polymorphisms, but the minimum arity of such a polymorphism is large and almost matches the known upper bounds. We present a simplified and explicit construction of such structures and a detailed, self–contained proof.
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Khaliel, Alaa H., Ahmed A. Abbas, Anmar O. Hatem et Ahmed S. Abdulamir. « THE IMPACT OF VERY LATE ANTIGEN 4 POLYMORPHISM ON DRUG RESPONSIVENESS IN PATIENTS WITH MULTIPLE SCLEROSIS INITIATION ». Iraqi Journal of Medical Sciences 20, no 1 (30 juin 2022) : 83–89. http://dx.doi.org/10.22578/ijms.20.1.11.
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Background: Very late antigen 4 (VLA4) integrin facilitates the immune cells migration to central nervous system (CNS) through blood brain barrier (BBB), so the polymorphism in this gene may be considered as genetic risk factor for multiple sclerosis (MS) occurrence. It may interact with the responsiveness level of Natalizumab. Objective: To show if VLA4 single nucleotide gene polymorphism (SNP) (C-269-A) considered as genetic predisposition factor for MS and if have a role in Natalizumab (Tysabri) drug non-responsiveness. Methods: Sixty-six (66) person with MS and 60 healthy persons involved in this study, their ages were range from 14 to 67 years. They attended to seek treatment in the MS outpatient’s clinic, at Baghdad Teaching Hospital, Medical City Complex from December 2018 to March 2020. Patient were divided into two group; resistant group (34) and response group (32). The VLA-4 SNP polymorphism investigated by sequence specific primer polymerase chain reaction (SSP-PCR) technique. Results: The VLA4 gene SSP-PCR genotyping revealed no significant differences between patients and control group also between responder patients and non-responder to Natalizumab. Conclusion: VLA-4 polymorphisms at the level of SNP at positions 269 (C/A) have no role in MS susceptibility or Natalizumab responsiveness. Keywords: MS, Natalizumab, VLA-4 Citation: Khaliel AH, Abbas AA, Hatem AO, Abdulamir AS. The impact of Very Late Antigen 4 polymorphism on drug responsiveness in patients with multiple sclerosis initiation. Iraqi JMS. 2022; 20(1): 83-89. doi: 10.22578/IJMS.20.1.11
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Ito, Soichiro, Takeshi Hirota, Miyu Yanai, Mai Muto, Eri Watanabe, Yuki Taya et Ichiro Ieiri. « Effects of Genetic Polymorphisms of Cathepsin A on Metabolism of Tenofovir Alafenamide ». Genes 12, no 12 (20 décembre 2021) : 2026. http://dx.doi.org/10.3390/genes12122026.
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Cathepsin A (CatA) is important as a drug-metabolizing enzyme responsible for the activation of prodrugs, such as the anti-human immunodeficiency virus drug Tenofovir Alafenamide (TAF). The present study was undertaken to clarify the presence of polymorphisms of the CatA gene in healthy Japanese subjects and the influence of gene polymorphism on the expression level of CatA protein and the drug-metabolizing activity. Single-strand conformation polymorphism method was used to analyze genetic polymorphisms in healthy Japanese subjects. Nine genetic polymorphisms were identified in the CatA gene. The polymorphism (85_87CTG>-) in exon 2 was a mutation causing a deletion of leucine, resulting in the change of the leucine 9-repeat (Leu9) to 8-repeat (Leu8) in the signal peptide region of CatA protein. The effect of Leu8 on the expression level of CatA protein was evaluated in Flp-In-293 cells with a stably expressed CatA, resulting in the expression of CatA protein being significantly elevated in variant 2 with Leu8 compared with Leu9. Higher concentrations of tenofovir alanine (TFV-Ala), a metabolite of TAF, were observed in the Leu8-expressing cells than in the Leu9-expressing cells using LC/MS/MS. Our findings suggest that the drug metabolic activity of CatA is altered by the genetic polymorphism.
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Suriyaprom, Kanjana, Rungsunn Tungtrongchitr et Pisit Namjuntra. « Associations of Resistin Levels with Resistin Gene Polymorphism and Metabolic Syndrome in Thais / Asocijacija Nivoa Rezistina Sa Polimorfizmom Gena Za Rezistin I Metaboličkim Sindromom Kod Tajlanđana ». Journal of Medical Biochemistry 34, no 2 (1 avril 2015) : 170–78. http://dx.doi.org/10.2478/jomb-2014-0034.
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Summary Background: Metabolic syndrome (MS) is a clinical constellation comprising risk factors associated with developing cardiovascular disease and type 2 diabetes. Resistin has been suggested as a linkage between obesity, inflammation and type 2 diabetes. This study aimed to investigate resistin concentrations and hematological-biochemical parameters in MS subjects and controls, and to determine whether two resistin gene (RETN) polymorphisms (-420C>G & +299G>A) are linked to resistin levels and MS among Thais. Methods: This case-control study was performed with 322 Thai volunteers: 160 MS subjects and 162 controls. Anthropometric parameters and hematological-biochemical variables were determined. The RETN -420C>G (rs1862513) and +299G>A (rs3745367) polymorphisms were genotyped by PCR-RFLP technique. Results: The resistin levels of the MS group were significantly higher than those of the control group. Resistin levels were positively correlated with anthropometric parameters and WBC count in the MS group. According to RETN -420C>G polymorphism, MS subjects with the G allele (CG/GG) (3.9 mg/L) had significantly higher resistin con- centrations than in subjects with the CC genotype (2.4 mg/L); with regard to RETN +299G>A polymorphism, carriers with the A allele (GA/AA) (3.8 mg/L) had significantly higher resistin levels than subjects with the GG genotype (2.7 mg/L), after adjusting for potential covariates. How - ever, the RETN -420C>G and +299G>A poly morphisms were not found to be associated with MS, hematologicalbiochemical parameters and anthropometric variables. Conclusions: These findings suggest resistin levels are linked with MS and the RETN -420C>G and +299G>A polymorphisms have impacted the circulating resistin concentrations. However, these two RETN polymorphisms pro - bably do not influence susceptibility to MS among Thais.
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Masnavieva, Liudmila B., Nadezhda P. Chistova, Olga V. Naumova et Irina V. Kudaeva. « The role of LEPR, PPARG and PPARGC1A genes polymorphisms in the development of metabolic disorders in patients with vibration diseases ». Hygiene and sanitation 100, no 7 (31 juillet 2021) : 711–16. http://dx.doi.org/10.47470/0016-9900-2021-100-7-711-716.
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Introduction. Patients with vibration disease (VD) often have obesity and metabolic syndrome (MS), which increase the risk of developing type 2 diabetes, hypertension, and other conditions predisposing to a decrease in the quality and longevity of life. Genetic predisposition, overnutrition, environmental factors, including industrial ones, and others are factors influencing the formation of MS. The aim of the study is to identify associations between polymorphisms of the LEPR, PPARG and PPARGC1A genes, metabolic syndrome and obesity in VD patients caused by exposure to local vibration and the combined effects of local and general vibration. Material and methods. We examined 248 VD male patients exposed to local vibration and the combined impact of the local and general vibration. We have identified a subgroup of MS and obesity cases. The distribution of genotypes of the LEPR, PPARG and PPARGC1A genes in groups was studied. Results. In the group of VD and MS patients exposed to the combined effect of local and general vibration, the Gln/Gln genotype of the Arg223Gln polymorphic locus of the LEPR gene was less common, and the Arg / Gln genotype in MS cases was detected more often than in patients without it. Among patients with VD caused by exposure to local vibration with a waist circumference of more than 102 cm, the Gly / Ser genotype of the Gly482Ser polymorphism of the PPARGC1A gene was more common than among those with lower values of this indicator. Conclusion. In patients with VD caused by combined exposure to local and general vibration, the Gln/Gln genotype carrier of the Arg223Gln polymorphism of the LEPR gene may play a protective role in the formation of MS. Among individuals with VD caused by exposure to local vibration, carriers of the heterozygous genotype of the Gly482Ser polymorphism of the PPARGC1A gene may have a predisposition to the development of obesity. The obtained results are preliminary and require further research.
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Yang, B. C., S. S. Hwang, K. B. Oh, C. H. Park, E. W. Park, D. H. Kim, S. S. Lee, S. H. Han et S. B. Park. « 258 CLASSIFICATION AND IDENTIFICATION OF THE CLONED HANWOO CALVES DERIVED FROM SOMATIC CELL NUCLEAR TRANSFER USING MS GENOTYPES AND mtDNA POLYMORPHISMS ». Reproduction, Fertility and Development 22, no 1 (2010) : 286. http://dx.doi.org/10.1071/rdv22n1ab258.
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The calves produced by somatic cell nuclear transfer (SCNT) had identical genetic background except for cytoplasmic transmission molecules, which originated from recipient oocytes. To identify the SCNT calves generated from 3 nucleus donors, genotypes for 16 microsatellite (MS) markers and mitochondrial DNA (mtDNA) polymorphisms were analyzed. Using MS genotypes, the parentage test results were not only classified as the single donor-derived calves but mtDNA sequence variations might also discriminated all SCNT calves within the donor-derived families. Comparing MS genotypes, AI-derived progenies were easily discriminated from each other. However, those genotypes could not supply the useful information for identifying the SCNT calves produced from each donor. Informative sequence variations were detected in several regions including D-loop, 12 S rDNA, and ND5 genes. About 19 nucleotide substitutions found within D-loop allowed individual identification for most SCNT-derived progeny except for 5 individuals. However, further investigation on 12 S rDNA and ND5 genes provided the useful polymorphic information for those 5 individuals. Although the experiment had been carried out to produce SCNT calves without previous investigation of mtDNA polymorphism, polymorphic mtDNA sequences provided interesting information that discriminated individuals, even those from the same donor cells. In addition, we could distinguish the 2nd generations produced by AI combinations using SCNT donors and SCNT progeny as the dams and/or the sires when combined molecular data obtained from MS genotypes and mtDNA polymorphisms were derived. These results suggested that mtDNA polymorphisms might supply the critical information for identification and traceability for SCNT-derived calves when combined with MS data. This work received grant support from the Agenda Program (No. 200901FHT010305191), Rural Development Administration, Republic of Korea.
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Fattakhov, N. S., M. A. Vasilenko, D. A. Skuratovskaia, D. I. Kulikov, E. V. Kirienkova, P. A. Zatolokin, M. A. Beletskaya et L. S. Litvinova. « Pathogenetic significance of C774T single nucleotide polymorphism of the endothelial NO synthase gene in the development of metabolic syndrome ». Biomeditsinskaya Khimiya 62, no 4 (2016) : 447–52. http://dx.doi.org/10.18097/pbmc20166204447.
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The relationship between nitric oxide production and metabolic disorders and the role of endothelial nitric oxide synthase (eNOS or NOS3) in metabolic syndrome (MS) remain poorly understood and need deeper investigation. In this context the role of the NOS3 gene in pathogenesis of MS is of special interest. The aim of the study was to investigate association of NOS3 single nucleotide polymorphism C774T with risk of MS in the Slavic population of the Kaliningrad region and the relationship of this polymorphic variant with some parameters of endothelial dysfunction. The study included 128 patients (48 men and 80 women aged from 36 to 52 years) with MS. The control group consisted of 126 healthy volunteers (60 men and 66 women aged from 30 to 40 years). Genotyping was performed by real-time PCR. Serum nitrite levels were determined spectrophotometrically by the Griess method. Serum levels of endothelin-1 and eNOS were evaluated by ELISA. The study has shown association of T allele (OR=2.06; p=0.0004; CI: 1.38-3.08) and CT genotype (OR=1.97; p=0.014; CI: 1.14-3.40 ) C774T polymorphism of the NOS3 gene with risk of MS in the Slavic population of the Kaliningrad region. Allele C (OR=0.48; p=0.0004; CI: 0.32-0.72) and homozygous CC genotype (OR=0.41; p=0.001; CI: 0.24-0,69) C774T polymorphism of the NOS3 gene were associated with reduced risk of the development of MS. Significant differences in serum levels of eNOS and endothelin-1 depended on the CT and TT genotypes of C774T polymorphism of the NOS3 gene in MS.
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Ю.И., Шрамко,, Агеева, Е.С., Малый, К.Д., Репинская, И.Н., Таримов, К.О., Фомочкина, И.И., Кубышкин, А.В. et al. « Association of Adiponectin and Leptin Genetic Polymorphisms with Clinical Manifestations of Metabolic Syndrome ». Nauchno-prakticheskii zhurnal «Medicinskaia genetika, no 9 (30 septembre 2022) : 8–12. http://dx.doi.org/10.25557/2073-7998.2022.09.8-12.
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Абдоминальное ожирение, связанное с полигенными наследственными дефектами, считается начальным событием в развитии метаболического синдрома (МС). Целью исследования был анализ частоты полиморфизма генов адипонектина (ADIPOQ) и лептина (LEP) у пациентов с МС, а также ассоциации симптомов МС с полиморфизмом названных генов. ДНК была выделена из цельной крови 207 пациентов с МС и 100 здоровых лиц (контрольная группа). Полиморфизмы генов определяли методом полимеразной цепной реакции в реальном времени. Установлена ассоциация генотипа GG полиморфизма -2548 A/G (rs7799039) гена LEP с риском высокого артериального давления у пациентов с МС, а генотипа GG полиморфизма +45 T/G (rs2241766) гена ADIPOQ с гипергликемией как ведущим звеном развития МС. Установлена статистически значимая связь риска развития МС с аллелем G полиморфизма +45 T/G (rs2241766) гена ADIPOQ (OR (95% СI)= 5,6 (2,4-13,0)), а также с генотипами TG и GG данного варианта (OR (95% СI)=3,81 (1,79-8,09) и OR (95% СI)=10,0 (2,25-44,7). Abdominal obesity connecting with polygenic hereditary defects is considered the initial event in metabolic syndrome (MS) development. The purpose of study was to analyse the frequency of adiponectin (ADIPOQ) and leptin (LEP) gene polymorphisms in patients with MS, and the association of MS’s symptoms with named genes’ polymorphism. DNA was isolated from the whole blood of 207 patients with MS and 100 healthy individuals (control group). Gene polymorphisms were determined by real-time polymerase chain reaction. The association of the GG genotype of -2548 A/G polymorphism of the LEP gene (rs7799039) with the risk of high blood pressure in patients with MS, and the genotype of GG polymorphism + 45 T/G of the ADIPOQ gene (rs2241766) with hyperglycemia as a leading link in the development of MS was established. The association of the allele G of polymorphism +45 T/G (rs2241766) of the ADIPOQ gene with the risk of metabolic syndrome was established (OR (95% CI) =5,6 (2,4-13,0)), as well as the association of the TG and GG genotypes of this genetic variant (OR (95% CI)=3.81 (1.79-8.09) and OR (95% CI)=10.0 (2.25-44.7).
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Greve, Bernhard, Rostislav Simonenko, Zsolt Illes, Agnes Peterfalvi, Nada Hamdi, Marcin P. Mycko, Krzysztof W. Selmaj et al. « Multiple sclerosis and the CTLA4 autoimmunity polymorphism CT60 : no association in patients from Germany, Hungary and Poland ». Multiple Sclerosis Journal 14, no 2 (17 octobre 2007) : 153–58. http://dx.doi.org/10.1177/1352458507082357.
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Polymorphisms in the CTLA4 gene region have been associated with susceptibility to autoimmune diseases. The recently described single nucleotide polymorphism CT60, located in the 3' untranslated region of CTLA4 is associated with Graves' disease, thyroiditis, autoimmune diabetes and other autoimmune diseases. A case-control association study was conducted in German, Hungarian and Polish multiple sclerosis (MS) patients and regional control individuals for the CTLA4 CT60 and + 49A/G polymorphisms. No significant association of these polymorphisms or respective haplotypes with MS was found. No association of CT60 genotypes with T cell expression of ICOS and CTLA-4 after in vitro stimulation was detected. Multiple Sclerosis 2008; 14: 153—158. http://msj.sagepub.com
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Ibrahim, Sherine M., et Afaf A. Bastawy. « The Relevance of Single-nucleotide Polymorphism +62 G>A to the Expression of Resistin Gene Affecting Serum Resistin Levels in Metabolic Syndrome in the Egyptian Population ». Current Pharmaceutical Biotechnology 21, no 7 (16 juin 2020) : 626–34. http://dx.doi.org/10.2174/1389201021666191210122851.
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Background: Metabolic Syndrome (MS) is a clinical condition consisting of risk factors associated with type two diabetes and developing cardiovascular disease. It has been suggested that resistin is a linkage between obesity, inflammation and type two diabetes. This study aims to investigate whether Resistin Gene (RETN) polymorphism (+62G>A) is linked to MS and resistin levels among the Egyptian population. Methods: This study was performed with 310 Egyptian volunteers: 160 MS subjects and 150 controls. Anthropometric parameters and biochemical variables were determined. The RETN +62G>A polymorphism was genotyped by PCR-RFLP technique. Results: The resistin levels of the MS group were significantly higher than those of the control group. Resistin levels were positively correlated with anthropometric parameters and liver biomarkers in the MS group. According to RETN +62G>A polymorphism, carriers with the A allele (GA/AA) had significantly increased resistin levels than subjects with the GG genotype, consequently, the RETN +62G >A polymorphism was found to be related to MS, biochemical parameters and anthropometric variables. Conclusions: These findings propose that the RETN +62G>A polymorphism has a great impact on the circulating resistin concentrations, and that resistin levels are strongly related to MS. Therefore, this RETN polymorphism is related to the risk of the prevalence of MS in the Egyptians.
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Eremenko, Tatiana V. « Association of polimorphism rs1801282 with different components of the metabolic syndrome ». HERALD of North-Western State Medical University named after I.I. Mechnikov 10, no 3 (19 novembre 2018) : 60–64. http://dx.doi.org/10.17816/mechnikov201810360-64.
Texte intégralRésumé :
Objective. To study the association of polymorphism rs1801282 of the PPARγ gene with different components of metabolic syndrome (MS).
Materials and methods. 145 subjects with newly diagnosed MS were examined. All subjects underwent a clinical examination, including general clinical, laboratory and instrumental methods; presence of polymorphism rs1801282 of the PPARγ gene was also determined.
Results. In the group of subjects with rs1801282 polymorphism, hyperglycemia was observed less frequently compared with the rest of subjects the incidence was 53.8% and 79.8% cases respectively (p = 0.005). A decrease in the risk of arterial hypertension was also observed in subjects with polymorphic allele: an increase in blood pressure was noted in 70.6% of rs1801282 group and 96.2% for wild type PPARγ (p < 0.001). When analyzing levels of triglycerides and high-density lipoproteins, an increase in these parameters was noted in the group of subjects with rs1801282 polymorphism.
Conclusion. The results of the study indicate the association of rs1801282 polymorphism in subjects with metabolic syndrome with a number of clinical features of the disease, dyslipidemia and a reduction of the risk of hyperglycemia and hypertension.
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Lovrečić, Luca, Smiljana Ristić, Nada Starčević-Čizmarević, Bojana Brajenović-Milic, Saša Sega Jazbec, Juraj Sepčić, Miljenko Kapović et Borut Peterlin. « PAI and TPA gene polymorphisms in multiple sclerosis ». Multiple Sclerosis Journal 14, no 2 (17 octobre 2007) : 243–47. http://dx.doi.org/10.1177/1352458507082603.
Texte intégralRésumé :
Multiple sclerosis (MS) is an immune-mediated chronic inflammatory demyelinating disease of the central nervous system. It manifests as acute focal inflammatory demyelination and axonal loss with limited remyelination and results in the chronic multifocal sclerotic plaques. Previously published data showed impaired fibrinolysis in MS. Tissue plasminogen activator t-PA is a serine protease that catalyses the activation of plasmin, which mediates the effects of fibrinolytic system. Alu insertion/deletion (I/D) genetic polymorphism in TPA gene in MS patients has not been analysed previously. The major inhibitor of t-PA is plasminogen activator inhibitor-1 (PAI-1). Its gene expression is modulated by functional genetic polymorphism in the promoter (4G/5G). In the present study, an association of two genetic polymorphisms with MS, its progression and subtype were analysed. TPA DD/PAI-1 4G4G genotype combination has reached a borderline significance for reduced risk for MS (OR = 0.543, 95% CI 0.301—0.978, P = 0.04), suggesting a gene—gene interaction. The explanation for this interaction may be a complex interplay between these two pleiotropic proteins within the brain tissue and in plasma. Multiple Sclerosis 2008; 14: 243—247. http://msj.sagepub.com
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Boyko, A. N., M. S. Kozin, G. Zh Osmak, O. G. Kulakova et O. O. Favorova. « Mitochondrial genome and risk of multiple sclerosis ». Neurology, Neuropsychiatry, Psychosomatics 11, no 3 (1 novembre 2019) : 43–46. http://dx.doi.org/10.14412/2074-2711-2019-3-43-46.
Texte intégralRésumé :
Mitochondrial DNA (mtDNA) polymorphism makes a certain contribution to the formation of a genetic risk of multiple sclerosis (MS).Objective: to analyze the frequency of mtDNA variants in patients with MS and control individuals in the Russian population. A similar study was conducted for the first time.Patients and methods. The polymorphism of mtDNA was studied in the Russian population: in 283 unrelated patients with relapsing-remitting MS and in 290 unrelated healthy controls matched for gender and age.Results and discussion. The frequency of haplogroup J in the patients with MS was twice higher than that in the control group (p=0.0055) (odds ratio (OR) 2.00; 95% confidence interval (CI). 1.21–3.41). This association was mostly observed in women (p=0.0083) (OR 2.20; 95% CI, 1.19–4.03). There was also a significant association of the A allele of MT-ND5 (m. 13708G>A) with MS (p=0.03) (OR 1.89; 95% CI 1.11–3.32). Sex stratification showed that the association with MS was significant only in women (p=0.009; OR, 2.52; 95% CI, 1.29–5.14). Further investigations will aim to analyze mtDNA variability (at the level of individual polymorphisms, haplogroups, and whole genome) in patients with relapsing-remitting MS and in those with primary progressive MS versus healthy individuals and patients with relapsing-remitting MS according to disease severity.Conclusion. The data obtained in the Russian population suggest that mtDNA variations are involved in MS risk, to a greater extent in women.
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Huang, Q. R., S. M. Teutsch, M. McW Buhler, B. H. Bennetts, R. NS Heard, N. Manolios et G. J. Stewart. « Evaluation of the Apo-1/Fas promoter Mva I polymorphism in multiple sclerosis ». Multiple Sclerosis Journal 6, no 1 (février 2000) : 14–18. http://dx.doi.org/10.1177/135245850000600104.
Texte intégralRésumé :
The pathogenesis of multiple sclerosis is under strong genetic control involving several or more genes each of modest effect. Whilst the mechanisms underlying the pathogenesis of MS remain unknown, it has been hypothesised that either decreased apoptosis of autoreactive T cells in the CNS, or increased apoptosis of oligodendrocytes may play an important role. The Apo-1/Fas antigen (CD95), the gene for which is located in a chromosomal region showing linkage in MS genome screens, is a critical inducer of apoptosis and studies have shown aberrant expression of this molecule in MS, correlating with a decrease in T cell apoptosis or increase in CNS tissue damage. This study investigated an Mva I polymorphism in the Apo-1/Fas promoter region in a group of 124 Australian patients with relapsing-remitting MS and in 183 normal controls. Whilst there were increases in the Mva I*2 allele in MS individuals overall (59% vs 52%, P not corrected=0.08), and in HLA-DRB1*1501 negative MS patients (62% vs 55%), these were not significantly different from controls. Interactions were investigated between the Mva I alleles and T cell receptor beta chain variable region (TCRBV) germline polymorphisms, with a trend in MS individuals towards a decrease of the Mva I*1 allele when combined with the TCRBV3S1*2 allele (Relative Risk=0.25, P=0.067), and with the TCRBV8S1*1 allele (Relative Risk=0.44, P=0.12). Overall, the findings of this study indicate a possible effect of the Apo-1/Fas promoter Mva I polymorphism in MS susceptibility, which needs to be confirmed in further studies.
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Bagos, Pantelis G., Anthi C. Karnaouri, Georgios K. Nikolopoulos et Stavros J. Hamodrakas. « No evidence for association of CTLA-4 gene polymorphisms with the risk of developing multiple sclerosis : a meta-analysis ». Multiple Sclerosis Journal 13, no 2 (mars 2007) : 156–68. http://dx.doi.org/10.1177/1352458507078059.
Texte intégralRésumé :
We conducted a meta-analysis concerning the association of cytotoxic T lymphocyte-associated antigen 4 (CTLA-4) gene polymorphisms with the risk of developing multiple sclerosis (MS). We identified 18 eligible studies summarizing information about 3375 MS cases and 2930 healthy controls. Two polymorphisms were of interest: the exon 1+49 A/G polymorphism (in 18 studies) and the promoter —318 C/T polymorphism (in 10 studies). Using random-effects methods we found no evidence for association of the various contrasts of genotypes (or allele frequencies) with the disease. There was significant between-studies heterogeneity that could not be explained by the ethnicity of the populations studied or by other summary measures (gender, disease course, latitude). The major finding of the meta-analysis, apart from the lack of an overall association, consists of detecting a significant time trend of the OR for the contrast of GA versus GG + AA genotypes of the exon 1 +49 A/G polymorphism. In particular, using cumulative meta-analysis we found that the large number of conflicting results on the subject was triggered by the early appearance of a highly significant published result (a study that indicated a significant association of the genotype with the disease). Multiple Sclerosis 2007; 13: 156–168. http://msj.sagepub.com
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Nowak, Izabela, Sylwester Ciećwież, Beata Łój, Jacek Brodowski et Agnieszka Brodowska. « Adiponectin Gene Polymorphism (rs17300539) Has No Influence on the Occurrence of Metabolic Syndrome in Women with Polycystic Ovary Syndrome ». Genes 12, no 12 (27 novembre 2021) : 1902. http://dx.doi.org/10.3390/genes12121902.
Texte intégralRésumé :
Adiponectin (rs17300539) is implicated in the pathogenesis of metabolic syndrome (MS), a common comorbidity of polycystic ovarian syndrome (PCOS). The aim of this study was to analyze the association between adiponectin gene polymorphism and incidence of MS in patients with PCOS. The study included 201 women (age 18 to 35 years), among them 81 patients with PCOS without concomitant MS, 70 subjects with PCOS and concomitant, and 50 regularly menstruating controls. Adiponectin gene polymorphism (11391 G/A, rs17300539) was determined by means of a real-time PCR. The study groups did not differ significantly in terms of their age and frequencies of various genotypes of the adiponectin gene polymorphism. The largest proportion in the whole group was Caucasian women (n = 178, 88.56%), who carried the GG genotype of the polymorphism; frequencies of GA and AA genotypes in the whole study group were 10.94% (n = 22) and 0.5% (n = 1), respectively. The presence of G or A allele of the rs17300539 adiponectin gene polymorphism was not associated with a greater likelihood of PCOS with/without concomitant MS. The hereby presented findings imply that MS is a common comorbidity in women with PCOS. However, the incidence of concomitant MS does not seem to be associated with adiponectin gene polymorphism.
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Mas, A., A. Martínez, V. De Las Heras, M. Bartolomé, Eg De La Concha, R. Arroyo et E. Urcelay. « The 795CT polymorphism in osteopontin gene is not associated with multiple sclerosis in a Spanish population ». Multiple Sclerosis Journal 13, no 2 (mars 2007) : 250–52. http://dx.doi.org/10.1177/1352458506070944.
Texte intégralRésumé :
Multiple sclerosis (MS) is an inflammatory disease affecting the central nervous system. The dysregulation of the cytokine network is an important component of its pathogenesis. One of the cytokines produced by activated T-cells is osteopontin (OPN). OPN enhances the production of the pro-inflammatory cytokines, interleukin-12 and interferon-gamma, while reducing interleukin-10 levels. Therefore, OPN is considered a pro-inflammatory cytokine, and could play a key role in MS pathogenesis. The OPN gene contains several common polymorphisms, distributed in two main haplotypes, which may modulate its production or activity. A total of 326 MS patients and 484 healthy controls were typed for 795CT OPN polymorphism. In order to perform a familial study, 51 progenitor pairs were also included. No difference was found in the case-control or family study. This negative finding is inconsistent with a previous haplotype study in an Italian population, where the haplotype associated carried the low-frequency allele in position 795. In a Japanese population, a similar study yielded no association with this polymorphism. In conclusion, our data suggest that the 795 polymorphism does not play an etiological role per se and the haplotype structure may differ from one population to another. Multiple Sclerosis 2007; 13: 250–252. http://msj.sagepub.com
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Barac, Ioana S., Mihaela Iancu, Vitalie Văcăraș, Angela Cozma, Vasile Negrean, Dorel Sâmpelean, Dafin F. Mureșanu et Lucia M. Procopciuc. « Potential Contribution of IL-27 and IL-23 Gene Polymorphisms to Multiple Sclerosis Susceptibility : An Association Analysis at Genotype and Haplotype Level ». Journal of Clinical Medicine 11, no 1 (22 décembre 2021) : 37. http://dx.doi.org/10.3390/jcm11010037.
Texte intégralRésumé :
(1) Background: interleukin 23 (IL-23) and interleukin 27 (IL-27) modulate the activity of T helper 17 cells (Th17) with critical roles in autoimmune diseases and multiple sclerosis (MS). The genes responsible for cytokine generation are highly influenced by the presence of single nucleotide polymorphisms (SNP) in main regions such as regulatory sequences or in promoter regions, contributing to disease susceptibility and evolution. The present study analyzed the associations of IL-23 and IL-27 SNPs with susceptibility to multiple sclerosis. (2) Methods: We performed a case-control study including 252 subjects: 157 patients diagnosed with MS and 95 controls. We used polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to determine the genotypes for IL-27 T4730C (rs 181206), IL-27 A964G (rs 153109), and IL-23 receptor gene (IL-23R) G1142A (rs 11209026). (3) Results: The IL27-T4730C gene polymorphism was significantly associated with an increased odds of MS under the dominant genetic model (TC + CC variant genotypes, adjusted odds ratio OR = 4.06, 95% CI: 2.14–7.83, p-value = 0.000007, Q-value = 0.000063). Individuals carrying the IL-27 A924G variant (AG + GG) genotype presented higher odds of MS compared to non-carriers under the dominant model (adjusted OR = 1.93, 95% CI: 1.05–3.51, p-value = 0.0324, Q-value = 0.05832) and the allelic genetic model (unadjusted p-value = 0.015, OR = 1.58, 95% CI: 1.09–2.28), while IL-23-R381Q SNP conferred a decreased odds of MS under a codominant model of inheritance (adjusted OR = 0.26, 95% CI: 0.08–0.92, p-value = 0.0276, Q-value = 0.058) and an allelic model (unadjusted p-value = 0.008, OR = 0.23, 95% CI: 0.07–0.75). In an additive model with adjustment for age group (≤40 years vs. >40 years), sex and smoking, patients carrying the G-C (A964G, T4730C) haplotype had a 3.18 increased risk (95% CI: 1.74–5.81, p < 0.001) to develop multiple sclerosis. (4) Conclusions: The results of the current study showed a significant relationship of IL-27-A964G and IL-27-T4730C polymorphisms with increased risk of MS, and also the protective role of the IL-23-R381Q polymorphism. Moreover, the haplotype-based analysis proposed the mutant G-C (A924G, T4730C) as a significant risk haplotype for the development of MS.
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Kurbanov, R. D., et N. Z. Srojidinova. « ROLE OF THE PPARГ PROI2ALA POLYMORPHISM IN HYPERTENSION AND METABOLIC SYNDROME ». Eurasian heart journal, no 2 (30 juin 2012) : 47–54. http://dx.doi.org/10.38109/2225-1685-2012-2-47-54.
Texte intégralRésumé :
Aim. То study prevalence of Pro12Ala polymorphism of the PPARγ gene in Uzbek hypertensive patients and healthy men and its association with blood pressure and cardiovascular remodeling process. Methods. We observed 169 hypertensive patients and 50 healthy men Uzbek nationality. Metabolic syndrome (MS) was defined according to IDF, 2005. It has been performed oral glucose tolerance test, echocardiography, reactive hyperemia test, definition of common carotid intima-media thickness, lipids, microalbuminuria (MAU). Genotyping of Pro12Ala polymorphism of the PPARγ gene was determined by PCR amplification with allele-specific primers. Results. Analysis of frequency distribution of Pro12Ala polymorphism of the PPARγ gene has shown significantly greater accumulation of Proallele both among hypertensive patients (89.9%) and healthy subjects (83%). There was no association between Pro12Ala polymorphism of the PPARγ gene and blood pressure, left ventricular mass lipid and glucose levels in hypertensive patients with MS. It has been revealed higher heart rate and MAU in hypertensive patients with MS-carriers of Proallele as compared with Ala-allele carriers. Genetic risk assessment of MS by multiplicative model of inheritance has shown that availability of Pro-allele has associated with high risk of MS (OR 1.73, 95%CI 0.84-3.37) but presence of Ala-allele has associated with low risk of MS (OR 0.58 95%CI 0.30-1.13). Conclusion. It has been found high frequency of Pro-allele and Pro/Pro genotype of Pro12Ala polymorphism of the PPARγ gene both among hypertensive patients with or without MS and healthy subjects of Uzbek nationality. Probability of MS development is higher in hypertensive patients with MS-carriers of Pro-allele of Pro12Ala polymorphism of the PPARγ gene as compared with Ala-allele carriers.
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Matsuo, Keitaro, Ritsuro Suzuki, Nobuyuki Hamajima, Michinori Ogura, Yoshitoyo Kagami, Hirofumi Taji, Eisei Kondoh et al. « Association between polymorphisms of folate- and methionine-metabolizing enzymes and susceptibility to malignant lymphoma ». Blood 97, no 10 (15 mai 2001) : 3205–9. http://dx.doi.org/10.1182/blood.v97.10.3205.
Texte intégralRésumé :
Abstract Genetic alteration is considered a probable cause of malignant lymphoma. Folate and methionine metabolism play essential roles in DNA synthesis and DNA methylation, and their metabolic pathways might thus affect disease susceptibility. In the present study, 2 polymorphisms were evaluated for a folate metabolic enzyme, methylenetetrahydrofolate reductase (MTHFR), and one was evaluated for methionine synthase (MS). The 2 polymorphisms, MTHFR677 C→T and MTHFR1298 A→C, are reported to reduce the enzyme activity, which causes intracellular accumulation of 5,10-methylenetetrahydrofolate and results in a reduced incidence of DNA double-strand breakage. The MS2756 A→G polymorphism also reduces the enzyme activity and results in the hypomethylation of DNA. To evaluate the association between malignant lymphoma susceptibility and these polymorphisms, hospital-based case-control study was conducted in Aichi Cancer Center. Ninety-eight patients with histologically confirmed lymphoma and 243 control subjects without cancer were evaluated. Unconditional logistic regression analyses revealed a higher susceptibility with the MTHFR677 CC and the MTHFR1298 AA genotypes (odds ratio, 2.26; 95% confidence interval, 1.26-4.02) when those harboring at least one variant allele in either polymorphism of MTHFR were defined as the reference. For the MS polymorphism, the MS2756 GG genotype also showed a higher susceptibility (odds ratio, 3.83; 95% CI, 1.21-12.1) than those with MS2756 AA or AG types. The significance was not altered when these 3 polymorphisms were evaluated in combination, and the results suggest that folate and methionine metabolism play important roles in the occurrence of malignant lymphomas. Further studies to confirm the association and detailed biologic mechanisms are now required.
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唐, 宏. « Polymorphism and Cocrystal Research Progress of Vanillin ». Material Sciences 12, no 02 (2022) : 112–22. http://dx.doi.org/10.12677/ms.2022.122012.
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Bergkvist, M., M. Olsson et M. Sandberg-Wollheim. « No evidence for genetic linkage between development of multiple sclerosis and components of the IFN system and the JA K-STAT pathway ». Multiple Sclerosis Journal 10, no 1 (février 2004) : 87–88. http://dx.doi.org/10.1191/1352458504ms976sr.
Texte intégralRésumé :
Multiple sclerosis (MS) is an inflammatory, demyelinating disease of the central nervous system (CNS). Several observations suggest that the interferon system may be of interest in the study of MS development. To investigate whether polymorphism in components of the IFN system and the JA K-STAT pathway influence susceptibility to MS, we performed a linkage analysis between polymorphic loci in or close to the IFN gamma, IFN gamma recepto r, IFN alpha/beta recepto r, JA K 1, STAT 1 and STAT 3 genes in 27 Swedish families with at least two members having MS. Tests for transmission disequilibrium and nonparametric linkage analysis gave negative results. We found no evidence for linkage between MS and any of these loci.
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Yan, Jun, Jia Liu, Clement Yihao Lin, Peter A. Csurhes, Michael P. Pender, Pamela A. McCombe et Judith M. Greer. « Interleukin-6 Gene Promoter-572 C Allele May Play a Role in Rate of Disease Progression in Multiple Sclerosis ». International Journal of Molecular Sciences 13, no 10 (22 octobre 2012) : 13667–79. http://dx.doi.org/10.3390/ijms131013667.
Texte intégralRésumé :
Multiple sclerosis (MS) is an inflammatory demyelinating disease affecting the central nervous system. Although the exact pathogenesis of MS is unknown, it is generally considered to be an autoimmune disease, with numerous genetic and environmental factors determining disease susceptibility and severity. One important mediator of immune responses and inflammation is interleukin-6 (IL-6). Previously, elevated levels of IL-6 in mononuclear cells in blood and in brain tissue from MS patients have been reported. Various polymorphisms in the promoter region of the IL6 gene have also been linked with IL-6 protein levels. In MS, several small studies have investigated whether two IL6 promoter polymorphisms (−597 G>A and −174 G>C) correlate with MS susceptibility, but with varying results. In the present study, we analyzed these polymorphisms, together with an additional polymorphism (−572 G>C) in 279 healthy controls and 509 patients with MS. We found no significant differences between MS patients and healthy controls for the different −597 or −174 IL6 promoter alleles or genotypes. There was a slight reduction in the percentage of individuals with MS who carried a C allele at position −572, although this was not significant after correction for multiple comparisons. Interestingly, however, the −572 C allele showed a significant correlation with the MS severity score, suggesting a possible role in disease progression.
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Valdés-Alvarado, Emmanuel, Miguel Huerta, Xochil Trujillo, Yeminia Valle, Jorge Ramón Padilla Gutiérrez, Mario Alberto Mireles-Ramírez, Miguel Angel Macías-Islas, Baltazar-Rodríguez Luz Margarita et José Francisco Muñoz-Valle. « Association between the -844 G>A, HindIII C>G, and 4G/5G PAI-1 Polymorphisms and Susceptibility to Multiple Sclerosis in Western Mexican Population ». Disease Markers 2019 (7 octobre 2019) : 1–5. http://dx.doi.org/10.1155/2019/9626289.
Texte intégralRésumé :
Introduction. Multiple sclerosis is an inflammatory disease, where fibrin deposition and the impairment in its degradation have been shown to play an important role in the demyelination process. Tissue plasminogen activator (tPA) is a serine protease that enhances the conversion of plasminogen into its active form plasmin, the principal tPA inhibitor is the PAI-1. Several PAI-1 polymorphisms impact its gene expression and protein activity. Furthermore, the aim of this study was to investigate the association between the - 844 G>A, HindIII C>G, and 4G/5G PAI-1 polymorphisms and susceptibility to MS. Material and Methods. The study group included 400 Mexican mestizo subjects: 200 unrelated patients and 200 unrelated individuals identified as control subjects. The analysis of PAI-1 polymorphisms was performed by polymerase chain reaction-restriction fragment length polymorphism. Results. A significant association was found between the CG genotype of the HindIII C>G PAI-1 polymorphism and susceptibility to MS (OR=1.58, p=0.03); moreover, the frequency of 5G allele and 5G/5G genotype of the 4G/5G PAI-1 polymorphism was statistically significant (OR=1.36 and p=0.04 and OR=2.43 and p=0.02, respectively). With respect to the relation between the scores of progression (EDSS) and severity (MSSS), no association was found between EDSS and genotypes of the PAI-1 polymorphisms analyzed. Regarding MSSS, male that carries genotype GA of the -844 G>A and genotype 4G/5G of the 4G/5G PAI-1 polymorphisms showed a significant association with an increase of media of MSSS in comparison with females (p=0.01 in both cases).
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Chen, Ai-Rong, Hong-Gang Zhang, Zhi-Ping Wang, Sheng-Jun Fu, Pei-Qi Yang, Jian-Gong Ren, Ying-Yuan Ning, Xue-Jian Hu et Ling-Hong Tian. « C-reactive protein, vitamin B12 and C677T polymorphism of N-5,10-methylenetetrahydrofolate reductase gene are related to insulin resistance and risk factors for metabolic syndrome in Chinese population ». Clinical & ; Investigative Medicine 33, no 5 (1 octobre 2010) : 290. http://dx.doi.org/10.25011/cim.v33i5.14354.
Texte intégralRésumé :
Purpose: Metabolic syndrome (MS) and type 2 diabetes mellitus (T2DM) are complex diseases affected by both dietary intake and genetic background. Whether N-5, 10-methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism, high-sensitivity C-reactive protein (hs-CRP) and dietary components folate and vitamin B12 are associated with MS in Asian has not been determined.
Methods: We hypothesized that MTHFR gene C677T, folate, vitamin B12 and hs-CRP are associated with MS and factors related to MS in northern Han Chinese. To test this hypothesis, MTHFR C677T gene polymorphism was determined by PCR-RFLP, serum insulin, folate and vitamin B12 levels by radioimmunoassay, and hs-CRP by immunoturbidimetry in newly diagnosed T2DM patients with MS (118) and without MS (40), and in 55 healthy subjects.
Results: Results indicated that MS-associated T2DM accounts for 75% of newly diagnosed T2DM in Han Chinese. Serum hs-CRP was higher and serum vitamin B12 was lower in subjects with TT genotype in comparison with those with CC or CT genotypes. Total T frequency was significantly higher in MS-associated T2DM patients (45.3%) compared to 26.3% in non-MS-associated T2DM patients. MTHFR C677T gene polymorphism and vitamin B12 levels were associated with MS-associated T2DM.
Conclusion: MTHFR C677T gene polymorphism may contribute to insulin resistance in Han Chinese with MS by increasing hs-CRP and decreasing vitamin B12, and consequently play an important role in development of MS-associated T2DM.
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Kreft, Karim L., Gijsbert P. Van Nierop, Sandra M. J. Scherbeijn, Malou Janssen, Georges M. G. M. Verjans et Rogier Q. Hintzen. « Elevated EBNA-1 IgG in MS is associated with genetic MS risk variants ». Neurology - Neuroimmunology Neuroinflammation 4, no 6 (13 octobre 2017) : e406. http://dx.doi.org/10.1212/nxi.0000000000000406.
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Objective:To assess whether MS genetic risk polymorphisms (single nucleotide polymorphism [SNP]) contribute to the enhanced humoral immune response against Epstein-Barr virus (EBV) infection in patients with MS.Methods:Serum anti-EBV nuclear antigen 1 (EBNA-1) and early antigen D (EA-D) immunoglobulin γ (IgG) levels were quantitatively determined in 668 genotyped patients with MS and 147 healthy controls. Anti–varicella-zoster virus (VZV) IgG levels were used as a highly prevalent, non-MS–associated control herpesvirus. Associations between virus-specific IgG levels and MS risk SNPs were analyzed.Results:IgG levels of EBNA-1, but not EA-D and VZV, were increased in patients with MS compared with healthy controls. Increased EBNA-1 IgG levels were significantly associated with risk alleles of SNP rs2744148 (SOX8), rs11154801 (MYB), rs1843938 (CARD11), and rs7200786 (CLEC16A/CIITA) in an interaction model and a trend toward significance for rs3135388 (HLA-DRB1*1501). In addition, risk alleles of rs694739 (PRDX5/BAD) and rs11581062 (VCAM1) were independently associated and interacted with normal EBNA-1 IgG levels. None of these interactions were associated with EA-D and VZV IgG titers.Conclusions:Several MS-associated SNPs significantly correlated with differential IgG levels directed to a latent, but not a lytic EBV protein. The data suggest that the aforementioned immune-related genes orchestrate the aberrant EBNA-1 IgG levels.
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Eremenko, T. V., S. M. Kotova, I. Yu Matezius, F. K. Khetagurova et F. M. Radugin. « Association of polimorphism rs1801282 with different components of the metabolic syndrome ». HERALD of North-Western State Medical University named after I.I. Mechnikov 10, no 2 (15 décembre 2018) : 39–43. http://dx.doi.org/10.17816/mechnikov201810239-43.
Texte intégralRésumé :
Objective. To study the association of polymorphism rs1801282 of the PPARγ gene with different components of metabolic syndrome (MS). Materials and methods. 145 subjects with newly diagnosed MS were examined. All subjects underwent a clinical examination, including general clinical, laboratory and instrumental methods; presence of polymorphism rs1801282 of the PPARγ gene was also determined. Results. In the group of subjects with rs1801282 polymorphism, hyperglycemia was observed less frequently compared with the rest of subjects the incidence was 53.8% and 79.8% cases respectively (p = 0.005). A decrease in the risk of arterial hypertension was also observed in subjects with polymorphic allele: an increase in blood pressure was noted in 70.6% of rs1801282 group and 96.2% for wild type PPARγ (p < 0.001) When analyzing levels of triglycerides and high-density lipoproteins, an increase in these parameters was noted in the group of subjects with rs1801282 polymorphism. Conclusion. The results of the study indicate the association of rs1801282 polymorphism in subjects with metabolic syndrome with a number of clinical features of the disease, dyslipidemia and a reduction of the risk of hyperglycemia and hypertension. (For citation: Eremenko TV, Kotova SM, Matezius IYu, et al. Association of polimorphism rs1801282 with different components of the metabolic syndrome. Herald of North-Western State Medical University named after I.I. Mechnikov. 2018;10(2):39-43. doi: 10.17816/mechnikov201810239-43).
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Pistono, Cristiana, Cecilia Osera, Maria Cristina Monti, Chiara Boiocchi, Giulia Mallucci, Mariaclara Cuccia, Cristina Montomoli, Roberto Bergamaschi et Alessia Pascale. « Vitamin D Receptor and Its Influence on Multiple Sclerosis Risk and Severity : From Gene Polymorphisms to Protein Expression ». Immuno 2, no 3 (27 juillet 2022) : 469–81. http://dx.doi.org/10.3390/immuno2030029.
Texte intégralRésumé :
Multiple sclerosis (MS) is a multifactorial neurodegenerative disease. Low levels of vitamin D are a risk factor for MS and alterations in the vitamin D receptor (VDR) might be a risk factor as well. This study aimed to evaluate whether the VDR rs731236 (Taq-I) and rs4334089 (HpyCH4V) gene polymorphisms and VDR protein expression are associated with MS risk and severity. Vitamin D plasma levels were analyzed in a group of patients. Additional analyses of VDR protein expression and vitamin D levels of patients with different forms of MS (MSSS < 3 and MSSS ≥ 3) were performed. The analysis of the genotypic and allelic frequencies revealed that the rs731236 (Taq-I) gene polymorphism is significantly associated with MS presence. Although the total, cytosolic and nuclear VDR protein contents do not change between MS patients and healthy controls and between patients with different MS severity, vitamin D levels decrease in parallel with an increase in MSSS.
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Asgharzadeh, Mohammad, Zahra A. Jigheh, Hossein S. Kafil, Mehdi Farhoudi, Daryoush S. Oskouei, Fatemeh Khaki-Khatibi, Manouchehr Fadaee et al. « Association of Interleukin-1 and Inteleukin-1 Receptor Antagonist Gene Polymorphisms with Multiple Sclerosis in Azeri Population of Iran ». Endocrine, Metabolic & ; Immune Disorders - Drug Targets 20, no 7 (9 septembre 2020) : 1110–16. http://dx.doi.org/10.2174/1871530320666200309142541.
Texte intégralRésumé :
Background: Cytokines as important mediators have a critical role in appropriate immune responses, the irregular production of which can lead to Multiple Sclerosis (MS). Proinflammatory cytokine interleukin-1 (IL-1) triggers inflammatory responses. Function and production of the cytokine are influenced by IL-1 coding gene polymorphism and those antagonists gene polymorphism. Objective: The aim of the present study was to evaluate the possible correlation between MS and IL-1 related alleles in Azeri population of Iran. Methods: Variable number tandem repeats (VNTR) genotypes of 150 MS patients and 220 healthy non-relative controls were determined. Result: n the healthy controls, genotype TT at IL-1A (-889) location was significantly higher than the MS patients (p=0.0001). However, a significant difference was not found between the two groups in genotypic/allelic frequency at IL- 1B+ 3953 location. Evaluation of the IL-1RA gene revealed that genotype 1/2, and genotype 1/3 were significantly higher in the healthy controls and MS patients, respectively. Our findings indicated that the consumption of fast-food in MS patients was significantly higher than controls (p= <0.05). Also, a considerable number of MS patients had inappropriate dieting behaviors such as not eating breakfast (p= 0.0001), and irregular eating habits (p= 0.0001). Conclusion: Polymorphisms of the IL-1B genes and common alleles of IL-1RA were not considered as risk factors for MS disease. However, genotype TT at IL-1A (-889) location and the rare allele of IL-1RA3 can be a potential risk factor for the disease. Furthermore, inappropriate dieting behaviors and consumption of fast-food can increase the risk of MS.
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HUNT, CLIVE C. J., JODI E. BURLEY, CAROLINE M. L. CHAPMAN et JOHN P. BEILBY. « A high-throughput MS-PCR method on MADGE gels for ANG II type-1 receptor A1166C polymorphism ». Physiological Genomics 1, no 2 (31 août 1999) : 71–73. http://dx.doi.org/10.1152/physiolgenomics.1999.1.2.71.
Texte intégralRésumé :
Hunt, Clive C. J., Jodi E. Burley, Caroline M. L. Chapman, and John P. Beilby. A high-throughput MS-PCR method on MADGE gels for ANG II type-1 receptor A1166C polymorphism. Physiol. Genomics 1: 71–73, 1999.—We have developed a highly accurate, low-cost, single-step, mutagenically separated polymerase chain reaction (MS-PCR) method for the determination of angiotensin II type-1 receptor (AT1) A1166C gene polymorphism. The genotypes are determined using the microtiter array diagonal gel electrophoresis (MADGE) system. We have compared the MS-PCR method with allele-specific oligonucleotide hybridization and Dde I digestion techniques for determining the AT1 A1166C genotype. The combination of MS-PCR and MADGE serves as a model for high-throughput single-nucleotide polymorphism genotyping in large population studies.
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Shramko, Iuliana, Elizaveta Ageeva, Konstantin Maliy, Irina Repinskaya et Anna Gurtovaya. « Genetic and pathophysiological substantiation of polyphenolic grape processing products’ application in the treatment of metabolic syndrome in the population of the Republic of Crimea ». BIO Web of Conferences 39 (2021) : 06001. http://dx.doi.org/10.1051/bioconf/20213906001.
Texte intégralRésumé :
Adipose tissue in abdominal obesity produces various cytokines, the most important of which is adiponectin (AN). Polymorphism of the AN receptor genes is associated with the risk of metabolic syndrome (MS) and type 2 diabetes mellitus (DM2) development. The aim of the study was to investigate the association of AN genes receptors’ polymorphism with the development of MS and DM2 in the Republic of Crimea as well as the possibility of named pathology correction with polyphenolic functional foods. The study included 100 patients with confirmed diagnosis of DM2 and MS. Genomic DNA was isolated from the whole blood of patients. Gene polymorphism amplification was performed by PCR real-time. The most common genotype of the ADIPOQ gene (rs1501299) among patients with DM2 and MS was GT polymorphism G276T. The most frequent genotypes of the ADIPOR1 gene were AC (rs2275737) – 53.3% and CT (rs2275738) - 50.0%. The most frequent combinations between ADIPOR1 and ADIPOQ genes were AC (rs2275737) /CT (rs2275738) and GT (rs1501299) – 28.6%, as well as AC (rs2275737)/CT (rs2275738) and GG (rs1501299) – 19.7%. Thus, in patients with MS and DM2 in the Republic of Crimea, associations of polymorphism of the genes of the AN receptors with the development of this pathology have been established. It is known that polyphenols of red grape varieties are epigenetic modifiers. Therefore, these products can be included in individual nutrition programs in population groups genetically predisposed to MS and DM2.
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Li, Keshen, Bin Zhao, Dawei Dai, Songpo Yao, Wandong Liang, Lifen Yao et Ze Yang. « A functional p.82G>S polymorphism in the RAGE gene is associated with multiple sclerosis in the Chinese population ». Multiple Sclerosis Journal 17, no 8 (20 avril 2011) : 914–21. http://dx.doi.org/10.1177/1352458511403529.
Texte intégralRésumé :
Background: The receptor for advanced glycation end products (RAGE) and its proinflammatory ligand, S100-calgranulins, are critically implicated in the pathological progression of multiple sclerosis (MS). A functional polymorphism within the V-type immunoglobulin domain of RAGE gene, p.82G>S (c.557G>A), has been shown to affect ligand binding affinity and thus may affect susceptibility to MS. Methods: The RAGE p.82G>S polymorphism was genotyped in 144 MS patients and 156 healthy controls using polymerase chain reaction – restriction fragment length polymorphism. A replication study was performed on a second cohort comprising 138 patients and 150 controls. The relationship between the RAGE p.82G>S polymorphism and circulating levels of soluble RAGE (sRAGE), a secreted decoy receptor against RAGE signaling, was also investigated. Results: In both initial and replication cohorts, an increased MS risk was detected in RAGE p.82G>S variant allele carriers (odds ratio [OR] = 1.786, p = 0.0134 and OR = 1.732, p = 0.0210, respectively). This association signal persisted in subgroups of women and patients with relapsing–remitting MS. Moreover, compared with the wild-type 82GG carriers, carriers of the variant allele presented a faster progression of disability and a reduced serum sRAGE level. Conclusions: The present study provides preliminary evidence that the gain-of-function p.82G>S polymorphism in the RAGE gene is associated with an increased risk of MS in the Chinese population.
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Starodubtseva, Natalia, Svetlana Kindysheva, Alyona Potapova, Evgenii Kukaev, Zulfiya Khodzhaeva, Ekaterina Bockeria, Vitaliy Chagovets, Vladimir Frankevich et Gennady Sukhikh. « Transplacental Therapeutic Drug Monitoring in Pregnant Women with Fetal Tachyarrhythmia Using HPLC-MS/MS ». International Journal of Molecular Sciences 24, no 3 (17 janvier 2023) : 1848. http://dx.doi.org/10.3390/ijms24031848.
Texte intégralRésumé :
Fetal arrhythmia develops in 0.1–5% of pregnancies and may cause fetal heart failure and fetal hydrops, thus increasing fetal, neonatal, and infant mortality. The timely initiation of transplacental antiarrhythmic therapy (ART) promotes the conversion of fetal tachycardia to sinus rhythm and the regression of the concomitant non-immune fetal hydrops. The optimal treatment regimen search for the fetus with tachyarrhythmia is still of high value. Polymorphisms of these genes determines the individual features of the drug pharmacokinetics. The aim of this study was to study the pharmacokinetics of transplacental anti-arrhythmic drugs in the fetal therapy of arrhythmias using HPLC-MS/MS, as well as to assess the effect of the multidrug-resistance gene ABCB1 3435C > T polymorphism on the efficacy and maternal/fetal complications of digoxin treatment. The predisposition to a decrease in the bioavailability of the digoxin in patients with a homozygous variant of the CC polymorphism showed a probable association with the development of ART side effects. A pronounced decrease in heart rate in women with the 3435TT allele of the ABCB1 gene was found. The homozygous TT variant in the fetus showed a probable association with an earlier response to ART and rhythm disruptions on the digoxin dosage reduction. high-performance liquid chromatography with tandem mass spectrometry (HPLC-MS/MS) methods for digoxin and sotalol therapeutic drug monitoring in blood plasma, amniotic fluid, and urine were developed. The digoxin and sotalol concentrations were determined in the plasma blood, urine, and amniotic fluid of 30 pregnant women at four time points (from the beginning of the transplacental antiarrhythmic therapy to delivery) and the plasma cord blood of 30 newborns. A high degree of correlation between the level of digoxin and sotalol in maternal and cord blood was found. The ratio of digoxin and sotalol in cord blood to maternal blood was 0.35 (0.27 and 0.46) and 1.0 (0.97 and 1.07), accordingly. The digoxin concentration in the blood of the fetus at the moment of the first rhythm recovery episode, 0.58 (0.46, 0.8) ng/mL, was below the therapeutic interval. This confirms the almost complete transplacental transfer of sotalol and the significant limitation in the case of digoxin. Previously, ABCB1/P-glycoprotein had been shown to limit fetal exposure to drugs. Further studies (including multicenter ones) to clarify the genetic features of the transplacental pharmacokinetics of antiarrhythmic drugs are needed.
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Scazzone, Concetta, Luisa Agnello, Bruna Lo Sasso, Giuseppe Salemi, Caterina Maria Gambino, Paolo Ragonese, Giuseppina Candore et al. « FOXP3 and GATA3 Polymorphisms, Vitamin D3 and Multiple Sclerosis ». Brain Sciences 11, no 4 (25 mars 2021) : 415. http://dx.doi.org/10.3390/brainsci11040415.
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Background: Regulatory T cells (Tregs) alterations have been implicated in the pathogenesis of Multiple Sclerosis (MS). Recently, a crucial role of the X-Linked Forkhead Box P3 (FoxP3) for the development and the stability of Tregs has emerged, and FOXP3 gene polymorphisms have been associated with the susceptibility to autoimmune diseases. The expression of Foxp3 in Tregs is regulated by the transcription factor GATA binding-protein 3 (GATA3) and vitamin D3. The aim of this retrospective case-control study was to investigate the potential association between FOXP3 and GATA3 genetic variants, Vitamin D3, and MS risk. Methods: We analyzed two polymorphisms in the FOXP3 gene (rs3761547 and rs3761548) and a polymorphism in the GATA3 gene (rs3824662) in 106 MS patients and 113 healthy controls. Serum 25(OH)D3 was also measured in all participants. Results: No statistically significant genotypic and allelic differences were found in the distribution of FOXP3 rs3761547 and rs3761548, or GATA3 rs3824662 in the MS patients, compared with controls. Patients that were homozygous for rs3761547 had lower 25(OH)D3 levels. Conclusions: Our findings did not show any association among FOXP3 and GATA3 SNPs, vitamin D3, and MS susceptibility.
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Tang, Kai, David Opalsky, Ken Abel, Dirk van den Boom, Ping Yip, Guy Del Mistro, Andreas Braun et Charles R. Cantor. « Single nucleotide polymorphism analyses by MALDI-TOF MS ». International Journal of Mass Spectrometry 226, no 1 (mars 2003) : 37–54. http://dx.doi.org/10.1016/s1387-3806(02)00980-6.
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Fu, Zenghui, Yan Jiang, Jing Liu, Zaihong Lin et Yan Jin. « Study on plasma CC chemokine ligand 2 level and its promoter region 2518A/G polymorphism in MS patients ». European Journal of Inflammation 18 (janvier 2020) : 205873922095991. http://dx.doi.org/10.1177/2058739220959913.
Texte intégralRésumé :
The increase of CC chemokine ligand 2 (CCL2) is associated with multiple sclerosis (MS), but the relationship between gene promoter region 2518A/G and the pathogenesis of MS is still not obvious. Collected 54 cases of relapsing-remitting MS patients and 54 healthy controls. By detecting the CCL2-2518A/G polymorphism of MS patients and analyzing the plasma CCL2 level. High levels of A/A genotype and A allele frequency in serum CCL2 and PBMC were found in MS patients. The serum CCL2 of MS patients with A/A genotype is higher than other genotypes. Lipopolysaccharide stimulated PBMC, CCL2 levels in the supernatant of all genotypes were higher, and the A/A genotype levels of MS patients were the highest. Finally, CCL2-2518A/G polymorphism is related to the pathogenesis of MS.
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Grilo, Antonio, Maria Fernandez, Manuel Beltrán, Reposo Ramirez-Lorca, María González, Jose Royo, Reyes Gutierrez-Tous et al. « Genetic analysis of CAV1 gene in hypertension and metabolic syndrome ». Thrombosis and Haemostasis 95, no 04 (2006) : 696–701. http://dx.doi.org/10.1160/th05-10-0699.
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SummaryRecently, we reported that the polymorphism 1132T>C (Gene-Bank: AF519768.1) of the NOS3 gene was associated with susceptibility to metabolic syndrome (MS) in hypertensive patients. This suggests that other genes such as CAV1, whose product (CAV1) regulates eNOS activity, could also be related to this phenotype.In this work we investigated the following:i) whether CAV1 is a quantitative trait locus of clustering of atherothrombotic traits associated with MS; ii) whether CVA1 is associated with hypertension or MS in hypertensive patients; and iii) whether genetic interaction between NOS3 and CAV1 is involved in the susceptibility or protection to hypertension associated with MS.To carry out the study, we genotyped 285 randomly selected individuals and 175 hypertensive patients, all of them ≤ 60 years old, with two polymorphisms of the CAV1 gene: the 22285 C>T and the 22375–22375 del AC (GeneBank AF125348), and the 1132T>C polymorphism of the NOS3 gene. To perform sample genotyping, we used pyrosequencing and FRET techniques.The 22285 C-22375–22375 del (Cd) haplotype of CAV1 gene was associated with low levels of blood pressure in the general population. Moreover, it was a genetic protection factor against MS in hypertensive patients. In addition, we found no evidence of gene-gene interaction between NOS3 and CAV1 genes with regard to that phenotype.
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Vladimirovna, Saranchina Y., Rossova N. Aleksandrovna, Khanarin N. Vladimirovich, Kilina O. Yur'evna, Dutova S. Vyacheslavovna et Kulakova T. Sergeevna. « Peculiaritie of Distribution of Polymorphic Variants of IL1Β Gene in Patients with Atherosclerosis and Metabolic Syndrome ». Current Pharmacogenomics and Personalized Medicine 17, no 1 (28 avril 2020) : 32–39. http://dx.doi.org/10.2174/1875692117666190416150346.
Texte intégralRésumé :
Objective: The purpose of the study was to analyze the association of allelic polymorphism of IL1В gene C>T loci -31 and +3953 with atherosclerotic changes of artries in patients with Metabolic Syndrome (MS). Materials and Methods: The main group of the study included 30 consecutive patients (24 women and 6 men, mean age - 51.7±2.2 years), for examination and treatment in the therapeutic Department of the Republican clinical hospital named "G. YA. Remishevskaya" (Abakan) about arterial hypertension or suspicion of type 2 diabetes. The criteria for inclusion in the core group included: compliance with the MS criteria according to the IDF criteria (2006); and the presence of ultrasound markers of Atherosclerosis (AS) according to the study of brachiocephalic arteries (presence of Atherosclerotic Plaques (ASP) and stenosis ≥30%). The control group included persons who underwent a planned medical examination in the Republican clinical hospital name "G. YA. Remishevskaya" (Abakan). A total of 35 patients (26 women and 9 men, mean age 44.7±1.5 years) were selected. The study involved the Russian population (Caucasians) living in the territory of the Republic of Khakassia. All the necessary examination and data collection were conducted including anamnestic data, anthropometric examination (measurements of length and body mass, waist circumference) body mass index, laboratory examination of blood biochemical parameters (glucose and lipid) and instrumental examination (blood pressure measurement, conducting ECG and ultrasound the brachiocephalic arteries). Single-nucleotide polymorphisms (SNP) of the promoter region of the IL1B gene at position-31C/T (rs1143627) and polymorphism in the coding part of the gene in exon 5 +3953C/T (rs 1143634) were studied by restriction analysis of amplification products (RFLP analysis). Results: The risk of development of AS in patients with MS may be higher in carriers of genotype TT (OR = 1,76; 95% CI: (0,96-3,24)) or T allele (OR = 1,44; 95% CI: (0,82- 2,53)) IL1В gene in the polymorphic locus of the T-31С and genotype CT (OR = 1,85; 95% CI: (0,92-3,37)) or T allele (OR = 1,35; 95% CI: (0,63-2,89)) IL1В gene in the polymorphic locus of C + 3953T. The most common combination of gene polymorphisms IL1В was haplotype (-31) ТC/(+3953)СС in both the groups surveyed (40.6% to 36.8%, respectively). Variant (-31)TT/(+3953)CT in the main group was found significantly more often (15.8%, at χ2= 4.92, at p=0.03) than in the control group (3.1 %). The value of the odds ratio in this case was 3.99 (95% CI: (1.08-14.79), which indicates the risk of AS development against the background of MS in carriers of combined genotype inheritance (-31)TT/(+3953) CT. Conclusion: The risk of development of AS in the background of MS is increased in carriers of combinations of SNPs (-31)TT/(+3953)CT IL1В gene responsible for hyperproduction of this cytokine. In this connection, further studies of the association of genes with MS and AS components should focus on intergenic interactions.
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Kozin, M. S., I. S. Kiselev, A. N. Boyko, O. G. Kulakova et O. O. Favorova. « The combined effect of nuclear and mitochondrial genomes on the risk of developing multiple sclerosis ». Neurology, Neuropsychiatry, Psychosomatics 12, no 1S (5 août 2020) : 15–19. http://dx.doi.org/10.14412/2074-2711-2020-1s-15-19.
Texte intégralRésumé :
Multiple sclerosis (MS) is a severe chronic CNS disease characterized by autoimmune inflammation, demyelination, and neurodegeneration. The interaction of mitochondrial and nuclear genomes is shown to be important in the formation of a predisposition to many diseases.Objective: to analyze the association of MS with the carriage of biallelic combinations, including as components the polymorphisms of three genes of mitochondrial DNA (mtDNA) and those of 16 nuclear genes, the products of which are involved in the functioning of the immune system and may participate in the development of autoimmune inflammation in MS; and, if these combinations are identified, to determine the nature of an interaction between their components. Patients and methods. The investigation enrolled 540 MS patients and 406 control group individuals; all were Russians. The mitochondrial genome was genotyped by polymerase chain reaction-restriction fragment length polymorphism analysis. APSampler software was used for multilocus association analysis. Results and discussion. The investigators identified five biallelic combinations that were associated with MS (p=0.0036–0.022) and possessed protective properties (odds ratio (OR) 0.67–0.75). The mitochondrial component of the identified combinations was the polymorphisms m.4580 (rs28357975), m.13368 (rs3899498), and m.13708 (rs28359178) mtDNA; the nuclear component was CXCR5 (rs523604), TNFRSF1A (rs1800693), and CD86 (rs2255214) gene polymorphisms. The interaction between the components of the identified combinations was additive. Conclusion. The data obtained in the Russian population suggest that the combined contribution of the mitochondrial and nuclear genomes may affect the risk of developing MS.
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Manjula, Prabuddha, Minjun Kim, Sunghyun Cho, Dongwon Seo et Jun Heon Lee. « High Levels of Genetic Variation in MHC-Linked Microsatellite Markers from Native Chicken Breeds ». Genes 12, no 2 (8 février 2021) : 240. http://dx.doi.org/10.3390/genes12020240.
Texte intégralRésumé :
The major histocompatibility complex (MHC) is a highly polymorphic gene region that regulates cellular communication in all specific immune responses. In this study, we investigated 11 microsatellite (MS) markers in the MHC-B region of chicken populations from four countries: Sri Lanka, Bangladesh, South Korea, and Nigeria. The MS markers were divided into two sets. Set 1 included five novel MS markers, which we assessed using 192 samples from 21 populations. Set 2 included six previously reported markers, which we assessed using 881 samples from 29 populations. The Set 1 MS markers had lower polymorphism (polymorphic information content (PIC) < 0.5) than the Set 2 markers (PIC = 0.4–0.9). In all populations, the LEI0258 marker was the most polymorphic, with a total of 38 alleles (PIC = 0.912, expected heterozygosity (He) = 0.918). Local populations from Sri Lanka, Bangladesh, and Nigeria had higher allele diversity and more haplotypes for Set 2 MS markers than Korean and commercial populations. The Sri Lankan Karuwalagaswewa village population had the highest MHC diversity (mean allele number = 8.17, He = 0.657), whereas the white leghorn population had the lowest (mean allele number = 2.33, He = 0.342). A total of 409 haplotypes (89 shared and 320 unique), with a range of 4 (Rhode Island red) to 46 (Karuwalagaswewa village (TA)), were identified. Among the shared haplotypes, the B21-like haplotype was identified in 15 populations. The genetic relationship observed in a neighbour-joining tree based on the DA distance agreed with the breeding histories and geographic separations. The results indicated high MHC diversity in the local chicken populations. The difference in the allelic pattern among populations presumably reflects the effects of different genotypes, environments, geographic variation, and breeding policies in each country. The selection of MHC allele in domestic poultry can vary due to intensification of poultry production. Preserved MHC diversity in local chicken provides a great opportunity for future studies that address the relationships between MHC polymorphisms and differential immune responses.
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Cozma, Angela, Adela Sitar Taut, Olga Orasan, Lucia Maria Procopciuc, Anca Daniela Farcas, Adina Stan, Vasile Negrean et al. « The Relationship Between eNOS (G894T ) Gene Polymorphism and Arterial Stiffness in Patients with Metabolic Syndrome ». Revista de Chimie 69, no 9 (15 octobre 2018) : 2351–56. http://dx.doi.org/10.37358/rc.18.9.6532.
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Metabolic syndrome (MS) is a clustering entity characterized by obesity, hypertension, hyperglycemia, dyslipidemia, and insulin resistance. Atherosclerotic lesions may be a complication of MS, arising from endothelial dysfunction and induced by decreased nitric oxide (NO) production. NO is synthesized by nitric oxide synthase (eNOS), encoded by the NOS3 gene, and displays anti-inflammatory, vasodilatory, and antiproliferative effects.We aimed to investigate the relationship between the G894T polymorphism of the eNOS gene and metabolic syndrome (including its components) and the association of this polymorphism with arterial function, assessed by determining pulse wave velocity and the augmentation index.The study included 100 consecutive patients, 55% with metabolic syndrome (based on IDF criteria -study group), 45% without MS (control group). Arterial stiffness was measured using TensioMedTMArteriograph. The presence of the homozygous (TT) or heterozygous (GT) state was associated, compared to subjects without the mutation (GG), with an increased prevalence of arterial hypertension, diabetes mellitus, with an increase of abdominal circumference, an increase of triglycerides, without significantly influencing the level of HDL. No significant differences were found between patients with G894T polymorphism compared to those without the mutation regarding the arterial stiffness. The eNOS gene polymorphism: 894G]T was significantly associated with the presence of MS; the polymorphism in homozygous and heterozygous state was associated with an increased risk of metabolic syndrome. G894T polymorphism did not significantly influence the values of the studied arterial parameters (pulse wave velocity, aortic and brachial augmentation index).
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Narooie-Nejad, Mehrnaz, Maryam Moossavi, Adam Torkamanzehi et Ali Moghtaderi. « Positive Association of Vitamin D Receptor Gene Variations with Multiple Sclerosis in South East Iranian Population ». BioMed Research International 2015 (2015) : 1–4. http://dx.doi.org/10.1155/2015/427519.
Texte intégralRésumé :
Among the factors postulated to play a role in MS susceptibility, the role of vitamin D is outstanding. Since the function of vitamin D receptor (VDR) represents the effect of vitamin D on the body and genetic variations in VDR gene may affect its function, we aim to highlight the association of two VDR gene polymorphisms with MS susceptibility. In current study, we recruited 113 MS patients and 122 healthy controls. TaqI (rs731236) and ApaI (rs7975232) genetic variations in these two groups were evaluated using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. All genotype and allele frequencies in both variations showed association with the disease status. However, to find the definite connection between genetic variations in VDR gene and MS disease in a population of South East of Iran, more researches on gene structure and its function with regard to patients’ conditions are required.