Auswahl der wissenschaftlichen Literatur zum Thema „Diabètes – Génétique“
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Zeitschriftenartikel zum Thema "Diabètes – Génétique"
Boitard, C. „Les diabètes : de la génétique à l’environnement“. Bulletin de l'Académie Nationale de Médecine 204, Nr. 5 (Mai 2020): 493–99. http://dx.doi.org/10.1016/j.banm.2020.03.007.
Der volle Inhalt der QuelleRoussel, R. „Existe-t-il une génétique des complications des diabètes ?“ Médecine des Maladies Métaboliques 5, Nr. 5 (Oktober 2011): 507–11. http://dx.doi.org/10.1016/s1957-2557(11)70299-1.
Der volle Inhalt der QuelleTabebi, M., I. Hadjsallem, N. Mezghani und F. Fakhfakh. „Étude génétique, moléculaire et immunohistochimique chez des patients atteints des diabètes mitochondriales“. Annales d'Endocrinologie 74, Nr. 4 (September 2013): 405. http://dx.doi.org/10.1016/j.ando.2013.07.588.
Der volle Inhalt der QuelleFroguel, P., N. Vionnet, D. Gauguier, M. Vaxillaire, H. Zouali, P. Passa und G. Velho. „Génétique du diabète non insulinodépendant“. médecine/sciences 10, Nr. 8-9 (1994): 795. http://dx.doi.org/10.4267/10608/2714.
Der volle Inhalt der QuelleFrioui, M., I. Bouraoui, R. Hannachi, M. Azzouz und A. Boudiba. „P132 Diabète secondaire : Hémochromatose génétique“. Diabetes & Metabolism 38 (März 2012): A62—A63. http://dx.doi.org/10.1016/s1262-3636(12)71234-x.
Der volle Inhalt der QuelleJulier, Cécile. „Génétique du diabète insulino-dépendant“. Annales de l'Institut Pasteur / Actualités 7, Nr. 1 (Januar 1996): 13–19. http://dx.doi.org/10.1016/0924-4204(96)82111-1.
Der volle Inhalt der QuelleJos, J. „Génétique du diabète insulino-dépendant“. Journal de Pédiatrie et de Puériculture 2, Nr. 3 (April 1989): 142–46. http://dx.doi.org/10.1016/s0987-7983(89)80084-2.
Der volle Inhalt der QuelleCoutant, R., und PF Bougnères. „Génétique du diabète de l'enfant“. Journal de Pédiatrie et de Puériculture 8, Nr. 5 (Januar 1995): 258–63. http://dx.doi.org/10.1016/s0987-7983(95)80196-0.
Der volle Inhalt der QuelleJeunemaitre, X. „Génétique des complications du diabète : néphropathie“. Annales d'Endocrinologie 65 (Februar 2004): 10–16. http://dx.doi.org/10.1016/s0003-4266(04)95996-3.
Der volle Inhalt der QuelleTaverna, M. J. „Génétique des complications du diabète : rétinopathie“. Annales d'Endocrinologie 65 (Februar 2004): 17–25. http://dx.doi.org/10.1016/s0003-4266(04)95997-5.
Der volle Inhalt der QuelleDissertationen zum Thema "Diabètes – Génétique"
Dubois-Laforgue, Danièle. „Déterminisme génétique de l'expression phénotypique du diabète de type 1“. Paris 5, 2002. http://www.theses.fr/2002PA05N112.
Der volle Inhalt der QuelleThe genetics of type 1 diabetes (DT1) remains elusive. About twenty susceptibility regions have been localized by genome scans, of wich a minority have been confirmed. Moreover, causal genes remain to be characterized. Association studies have been more contributive, since they demonstrated the implication of HLA genes and of the insulin VNTR and suggested that of CTLA4 and IL-12B. One of the difficulties in studying genetics of DT1 relies in the phenotypic heterogeneity of the disease. We studied the genetics of type 1 diabetes and of its phenotypic expression through the study of three genes, SDF-1, PARP and NOTC, which constitue putative candidates because of their function and their localization in regions. .
Prevost, Gaëtan. „L'implication du Récepteur des Produits Avancés de Glycation (RAGE) dans les complications du diabète : approches génétique et pharmacologique“. Lille 2, 2006. http://www.theses.fr/2006LIL2S040.
Der volle Inhalt der QuelleAdvanced glycation endproducts (AGE) are implicated in diabetic micro- but also macrovascular complications of diabetes mellitus. AGE toxicity is partially mediated via receptor dependant pathway especially via the RAGE (Receptor for Advanced Glycation Endproducts). The RAGE implication in the genetic of diabetic nephropathy and in the endothelial dysfunction has been investigated. First, the polymorphisms of exon 3 has been analysed by Denaturant Gradient Gel Electrophoresis. Although no association of this RAGE gene polymorphisms with type 1 diabetes susceptibility was found, we reported a strong linkage disequilibrium between the variant carrying the serine amino acid at position 82 and HLA class II genes. Finally, in a case control study, we reported an association between the 82 serine variant and advanced nephropathy in type I diabetic patients. This suggests that some RAGE gene polymorphisms may be associated with progression to diabetic advanced nephropathy in Caucasian type 1 diabetic patients. Thus, AGE have been implicated in diabetic endothelial dysfunction as vascular hyperpermeability and procoagulant and inflammatory states. However, the link between AGE and the endothelium dependent vasorelaxation impairment is still controversial. Vascular relaxation response to acetylcholine was tested in isolated segments of phenylephrine precontracted mice aorta at several stages of streptozotocin-induced diabetes. Blood levels of AGE (ELISA) and aortic tissue RAGE expression (Western Blot) were simultaneously quantified. Compared to control mice, significant impairment of endothelium dependant relaxation occurred four weeks after diabetes induction (-24% vs control, P<0,01) and was more severe eight weeks later. Simultaneously, blood AGE concentrations and RAGE aortic expression were significantly increased. Moreover, vasorelaxation impairment was associated with induced diabetic structural changes in the wall of aorta : intima-media thickening, disorganization of elastin lamina and actin network, increased amount and disorganization of the type III collagen. Four weeks after diabetes induction, aminoguanidine, AGE inhibitor, completely prevented the diabetes-induced decrease of relaxation to acetylcholine by decreasing AGE blood levels and RAGE expression. Moreover, aminoguanidine treatment significantly improves the induced diabetic structural changes. In conclusion, our work is in favour of a strong implication of the AGE pathway both in diabetic complications as nephropathy and vasorelaxation impairment. The use of anti AGE or AGE-RAGE inhibitors could be attractive therapeutics
Boulard, Olivier. „Contrôle génétique de l'auto-immunité chez la souris Nonobese Diabetic (NOD). Les locus IDD5 et IDD 16 de susceptibilité au diabète“. Paris 5, 2002. http://www.theses.fr/2002PA05N119.
Der volle Inhalt der QuelleNonobese diabetic (NOD) mice is a reference strain for autoimmue diabetes. We have analized more precisely one of the susceptibility loci, Idd5 on chromosome 1. This locus is of special interest because the corresponding genetic region include candidate genes like Ctla4 or Icos. Moreover, the human synteny on chromosome 2q is also a susceptibility region for human diabetes (IDDM 12 locus) and include CTLA4. The Idd5 locus has been investigated using congenic recombinant strains of mice. We have also characterized the genetic control of autoimmune phenotypes associated to NOD mice diabetes, like the inducible thyroi͏̈ditis of chronic evolution and spontaneous infiltration of salivary glands
Ghoussaini, Maya. „Utilisation des approches de gènes candidats positionnels et physiologiques dans l'identification des variants de susceptibilité à l'obésité et au diabète de type 2“. Lille 2, 2006. http://www.theses.fr/2006LIL2S024.
Der volle Inhalt der QuelleWe recently conducted a genome-wide scan for childhood obesity in the French population, the strongest evidence of linkage was detected on chromosome 6q16-23. The study of the positional candidate genes, ENPP, MCHR2 and SIM1 was the purpose of this PhD work. The ENPP1 gene encodes an inhibitor of the insulin receptor. The genetic study for the ENPP1 gene in 6,147 subjects, showed significant association of the allele risk haplotype of the variants (K121Q, IVS20delT-11 et A>G +1044 TGA, QdelTG) with childhood obesity (Odd Ratio (OR)=1. 69, p=0. 0006), moderate or morbid obesity in adults (OR=1. 37, p=0. 02; OR=1. 50, P=0. 006 respectively) and type 2 diabetes (T2D) (OR=1. 56, p=0. 00002). This haplotype is also associated with higher levels of the circulating forms of ENPP1. In contrast to other isoforms of ENPP1 that show ubiquitary expression, the long isoform of ENPP1 including the SNP A>G +1044 TGA had a specific expression in liver, adipocytes and pancreas, three key organs involved in glucose homeostasis. This haplotype also partially contributed to observed linkage with childhood obesity on chromosome 6q. Our results suggest a causative role of the ANPP1 haplotype in the insulin resistance in children which could further predisposes to the development of obesity and T2D. The MCHR2 encodes a receptor for the MCH (Melanin Concentrating Hormone), an orexigenic neuropeptide. Case/control analysis performed in 1,993 subjects showed an association between A76A T/C variant (p0. 03, OR=0. 75) and childhood obesity. Analysis of 645 trios with childhood obesity supproted the association and showed an over-transmission of the at risk T allele to obese children (59. 0%, p=0. 01), especially with severe obesity (67. 0%, p=0. 003). The risk allele was also over-transmitted in children with higher appetite during meals (62. 0%,p=0. 01) and with snacking habits (60. 0%, p=0. 03). None of the MCHR2 variants, including the A76A T/C SNP, showed association with adult class III obesity (BMI>40), although there was a trend for association of the T allele of this variant with disinhibition for food (p=0. 06) and with higher hunger (p=0. 09). Moreover, the A76A T/C SNP did not provide any evidence for participation to the linkage observed on the 6q locus. Our results altogether suggest that MCHR2 gene is not a major contributor to polygenic forms of obesity but supported a modest effect of the A76A T/C SNP on food intake abnormalities particularly in childhood. These results should be confirmed in additional populations. The SIM1 encodes a transcription factor highly expressed in the paraventricular nucleus (PVN). Sim1 (+/-) mice develop early onset of obesity and hyperphagia. Using direct sequencing, we identified 38 polymorphisms in the human gene SIM1. Case/control studies of frequent variants (>5%) in 2,474 French Caucasians showed significant association of three polymorphisms P352T, +2004 -/insT TGA, et +2215 TGA A/G with severe forms of childhood and/or adulthood obesity (1,19A. Functional analysis of the –767delGG deletion showed an alteration of the expression of the SIM1 gene. Our data suggest that severe hyperphagia could be a consequence of the dysfunction of the PVN which could be the result of mutations that affect the function and the expression of the SIM1 gene. Finally, we studied the Pro12A1a variant of the physiological candidate gene PPAR2. PPAR2 encodes a transcription factor essential for the diferenciation of adipocytes. Case/control studies encompassing 3,479 subjects found significant association between the Pro12A1a polymorphism and T2D (p=0. 04, OR=1. 37), which was stronger when the T2D cohort was stratified according to the obesity status (p=0. 03, OR=1. 81 in obese T2D subjects). In contrast, there was no association between the Pro12A1a and childhood and adulthood abesity. In normal glucose tolerant obese adults, allele Pro12 was associated with a significant increase in fasting insulin levels (p=0. 01) and insullin resistance (p=0. 003). We also found a borderline interaction of the Pro12A1a variant and obesity status on insulin resistance (p=0. 06) in normal glucose tolerant adults. In the study, we confirmed a contribution of the Pro12 allele in the genetic risk for T2D, especially in obese subjects, where this allele worsens insulin resistance and increases fasting insulin levels. These studies bring new insights into the implication of the feeding behaviour central patways and insulin pathways in the regulation of energy homeostasis
Populaire, Céline. „Etude des déterminants génétiques du diabète de type 2 de la fonction bêta pancréatique : combinaison des approches de la génétique inverse dans deux populations, japonaise et française“. Lille 2, 2004. http://www.theses.fr/2004LIL2S031.
Der volle Inhalt der QuelleThe pathogenesis of type 2 diabetes (T2D) is complex, with two distinct mechanisms: insulin resistance and insulin deficiency. These abnormalities are due to genetic and environmental factors. To allow a better understanding of T2D aetiology, we have undertaken the identification of genetic variants implied in the development of the disease, using 2 approaches: - a genome wide scan for T2D in diabetic Japanese sib-pairs revealed 2 linked regions at loci 3q26-q28 and 15q13-q21 where are located respectively APM1 and CX36 genes - genetic studies of KCNJ11, encoding the sub-unit of the channel Kir6. 2, and PDX-1, b cell pancreatic specific transcription factor were investigated in different French diabetic groups. We found activating mutations responsible for a neonatal form of diabetes and frequent variants implicated in mechanisms leading to an ordinary T2D
Abderrahmani, Amar. „Le diabète de type MODY : rôle des facteurs nucléaires hépatiques HNF1 alpha et HNF bêta“. Lille 1, 1999. https://pepite-depot.univ-lille.fr/LIBRE/Th_Num/1999/50376-1999-393.pdf.
Der volle Inhalt der QuelleCheyssac, Claire. „Etude de deux gènes candidats du DT2 : EIF4A2 : candidat positionnel au locus 3Q27 et PTPN1/PTP1B : cible pharmacologique dans la sensibilité à l'insuline“. Lille 2, 2006. http://www.theses.fr/2006LIL2S009.
Der volle Inhalt der QuelleType 2 diabetes (T2D) is the most common form of diabetes affecting more than 170 million people worldwide. The T2D pathophysiological mechanisms are characterized by defects of insulin secretion and insulin action leading to chronic hyperglycaemia determined by interactions between genetic and environmental risk factors. Although many genes responsible for monogenic forms of diabetes were identified, genetic determinants influencing T2D predisposition are still largely unknown. To identify new susceptibility variants, we used two approaches : - a familial association study of positional candidate gene variants at the 3q27 locus in falilies showing linkage to T2D with onset before 45 years ; and the exploration of a physiological candidate gene, PTPN1, through case-control analyses in different groups of subjects with type 2 diabetes or obesity. The analysis of the 3q27 locus in French families with strong T2D aggregation (432 diabetes subjects and 129 normoglycaemic subjects) confirmed of a genetic linkage with T2D age-of-onset. Two genes were investigated : KNG1, coding for kininogen, the bradykinin precursor, and EIF4A2 coding for the Eukaryotic Translation Initiation Factor 4 alpha 2, a translation initiation factor involved in protein synthesis which is down-regulated by glucose in rat pancreatic beta cells (INS832/13). A variant (rs266714), located upstream of the EIF4A2 gene showed association with T2D and T2D age-of-onset in the families. Affected sib-pairs sharing at least one at risk T allele showed a LOD-score of 5. 24 which could explain the T2D linkage. Moreover, this variant partly explains the age-of-onset linkage. The rs266714 SNP could modify the expression level of the eIF4A2 factor which modulates mRNA translation and protein synthesis rates in pancreatic beta cells. The PTPN1 gene codes for the protein tyrosine phosphatase 1B, a negative regulator of the insulin and leptin signalling pathways. An association with T2D and moderate obesity is observed for a variant at the PTPN1 gene locus. In 736 normoglycaemic non obese subjects, 2 intronic SNPs associate with variations of quantitative traits of glucose and lipid metabolism : increased HOMA-B and triglycerides, decreased HDL-cholesterol, which suggests a possible role in metabolic syndrome. This genetics approach contributes to an improved understanding of the pathways involved in the development of T2D and to propose new therapeutic targets
Dupont, Sophie. „Etude des déterminants génétiques du diabète de type 2 dans la population française“. Lille 1, 2000. https://pepite-depot.univ-lille.fr/RESTREINT/Th_Num/2000/50376-2000-308.pdf.
Der volle Inhalt der QuelleBouatia, Naji Nabila. „Implication des voies métaboliques associées à l'insuline dans la susceptibilité aux formes polygéniques d'obésité : études des gènes candidats ACDC/Adiponectine et ENPP1/PC-1“. Lille 2, 2006. http://www.theses.fr/2006LIL2S001.
Der volle Inhalt der QuelleObesity in an expected result of the obesogenic environment, defined by higher food intake and lower energy expenditure. Obesity is also a metabolic disorder that highly predisposes to type 2 diabetes (T2D) and cardiovascular diseases and its prevalence is constantly increasing in children. Genetic background contributes to individual's capacity of fat storage, insulin resistance and T2D. Here we describe genetic studies of ENPP1/ PC-1 and ACDC / adiponectin genes, both implicated in insulin associated metabolic pathways, and describe a rôle of their genetic variants in polygenic forms of obesity. A genome-wide scan study has described a childhood obesity susceptibility locus on chromosome 6q16-q23. The ENPP1/ PC-1 gene encoding an insulin receptor inhibitor was located in this interval. Analysis of ENPP1/ PC-1 in 6,147 subjects showed association between a three-allele risk haplotype QdelTG of SNPs K121Q, IVS20delT-11 and A>G+1044TGA and childhood obesity (OR=1. 69 ; p=0. 0006) and contribution of this haplotype to linkage with chidhood obesity on 6q. Haplotyoe QdelTG was also associated with morbid obesity (BMI ≥ 40) (OR=1. 50 ; p=0. 0006), moderate obesity (30 ≤ BMI < 40) (OR=1. 37 ; p=0. 02) and T2D (OR=1. 56 ; p=0. 00002). In children, this haplotype was associated with higher levels of circulating forms of ENPP1/ PC-1. Interestingly, long form of mRNA of ENPP1/ PC-1 that includes SNP A>G+1044TGA is specifically expressed in three tissues (pancreas, liver and adipose tissue) mainly involved in energy homeostasis. Our findings suggest that SNPs in ENPP1/ PC-1 gene may be a precursor to mediating insulin resistance and to the development of obesity and TD2. The second part of this study was dedicated to the candidate gene ACDC / adiponectin. Adiponectin is an adipokine with insulin sensitizing and anti-atherogenic properties. Several SNPs of the ACDC / adiponectin gene has been associated with insulin resistance and T2D. We describe the rôle of SNPs -11377C>g, -11391G>A, +45T>G and +276G>T of the ACDC locus in genetic susceptibility to severe forms of obesity like chidhood obesity and adults morbid obesity. Case/ controls analysis and familial association studies (TDT) showed that alleles -11,377C and +276T are associated with severe obesity in our populations individually and as a haplotype (0. 001 ≤p< 0. 10 ; 1. 19 ≤ OR ≤ 1. 24). Previously, the alternative alleles of these SNPs (-11,377G and +276G) were associated with higher risk of hypoadiponectinemia and T2D. In the general population, familial association (QTDT) of adiponectinemia showed evidence of association between the obesity risk haplotype and higher adiponectin levels (p=0. 03). Our findings suggest a rôle of adiponectin in weight gain. Several physiological and molecular results indicate that insulin sensitivity in adipose tissue is important for fat storage. Thus, ACDC / adiponectin SNPs predispose to severe forms of obesity and enhance insulin sensitivity which may in term, protect against insulin resistance and T2D. In summary, our studies reflect the complex rôle that insulin plays in energy homeostasis. Both insulin resistance and insulin sensitivity may favor weight gain depending on the target tissue of its action
Lacquemant, Corinne. „Étude génétique de l'insulino-résistance, du diabète et de leurs complications cardio-vasculaires“. Lille 1, 2000. https://pepite-depot.univ-lille.fr/LIBRE/Th_Num/2000/50376-2000-322-323.pdf.
Der volle Inhalt der QuellePar contre, l'incidence des maladies athérosclereuses prématurées a considérablement augmenté ces dernières années a l'île Maurice. Les facteurs de risque généralement associés à cette pathologie sont les anomalies du métabolisme du glucose, des lipides et des facteurs de la coagulation, l'hyperinsulinisme, l'obésité centrale et l'hypertension artérielle. Ce syndrome d'insulinorésistance à une forte composante héréditaire en raison de l'existence d'une forte prévalence de diabète et de maladie coronarienne. L'analyse familiale de liaison dans la population mauricienne nous a permis de détecter des régions liées aux différents facteurs de l'insulinorésistance. D'autres étapes seront nécessaires pour identifier et valider les gènes de prédisposition au développement de ces différentes pathologies
Bücher zum Thema "Diabètes – Génétique"
Chapleau, Mark W. Neuro-Cardiovascular Regulation : From Molecules to Man (Annals of the New York Academy of Sciences, V. 940). New York Academy of Sciences, 2001.
Den vollen Inhalt der Quelle findenRabinow, Paul. French DNA: Trouble in Purgatory. University Of Chicago Press, 2002.
Den vollen Inhalt der Quelle findenRabinow, Paul. French DNA: Trouble in Purgatory. University Of Chicago Press, 1999.
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