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Journal articles on the topic 'TGFBR1/2 polymorphisms'

Author: Grafiati

Published: 14 March 2023

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1

KAKLAMANI, VIRGINIA G., MAUREEN SADIM, YVONI KOUMANTAKI, PHEDON KAKLAMANIS, and BORIS PASCHE. "Role of Polymorphisms in Adamantiades-Behçet’s Disease." Journal of Rheumatology 35, no. 12 (2008): 2376–78. http://dx.doi.org/10.3899/jrheum.080676.

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ObjectiveWe previously showed that Adamantiades-Behçet’s disease (A-BD) is associated with a lower incidence of malignancy compared with the general population. Transforming growth factor-β (TGF-β) has been shown to play a role in cartilage regeneration and is increased in patients with A-BD. We also found 2 functional polymorphisms of the TGF-β pathway, TGFBR1*6A and TGFB1*CC, that are associated with risk of malignancy. We tested whether incidence of these polymorphisms would differ in patients with A-BD compared with healthy controls of similar age and geographic location.MethodsWe performe

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Guhlich, Manuel, Laura Hubert, Caroline Patricia Nadine Mergler, et al. "Identification of Risk Loci for Radiotoxicity in Prostate Cancer by Comprehensive Genotyping of TGFB1 and TGFBR1." Cancers 13, no. 21 (2021): 5585. http://dx.doi.org/10.3390/cancers13215585.

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Genetic variability in transforming growth factor beta pathway (TGFB) was suggested to affect adverse events of radiotherapy. We investigated comprehensive variability in TGFB1 (gene coding for TGFβ1 ligand) and TGFBR1 (TGFβ receptor-1) in relation to radiotoxicity. Prostate cancer patients treated with primary radiotherapy (n = 240) were surveyed for acute and late toxicity. Germline polymorphisms (n = 40) selected to cover the common genetic variability in TGFB1 and TGFBR1 were analyzed in peripheral blood cells. Human lymphoblastoid cell lines (LCLs) were used to evaluate a possible impact

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Puchenkova, Olesya A., Vladislav O. Soldatov, Andrei E. Belykh, et al. "Cytokines in Abdominal Aortic Aneurysm: Master Regulators With Clinical Application." Biomarker Insights 17 (January 2022): 117727192210956. http://dx.doi.org/10.1177/11772719221095676.

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Abdominal aortic aneurysm (AAA) is a potentially life-threatening disorder with a mostly asymptomatic course where the abdominal aorta is weakened and bulged. Cytokines play especially important roles (both positive and negative) among the molecular actors of AAA development. All the inflammatory cascades, extracellular matrix degradation and vascular smooth muscle cell apoptosis are driven by cytokines. Previous studies emphasize an altered expression and a changed epigenetic regulation of key cytokines in AAA tissue samples. Such cytokines as IL-6, IL-10, IL-12, IL-17, IL-33, IL-1β, TGF-β, T

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Puchenkova, Olesya A., Vladislav O. Soldatov, Andrei E. Belykh, et al. "Cytokines in Abdominal Aortic Aneurysm: Master Regulators With Clinical Application." Biomarker Insights 17 (January 2022): 117727192210956. http://dx.doi.org/10.1177/11772719221095676.

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Abdominal aortic aneurysm (AAA) is a potentially life-threatening disorder with a mostly asymptomatic course where the abdominal aorta is weakened and bulged. Cytokines play especially important roles (both positive and negative) among the molecular actors of AAA development. All the inflammatory cascades, extracellular matrix degradation and vascular smooth muscle cell apoptosis are driven by cytokines. Previous studies emphasize an altered expression and a changed epigenetic regulation of key cytokines in AAA tissue samples. Such cytokines as IL-6, IL-10, IL-12, IL-17, IL-33, IL-1β, TGF-β, T

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Kirschneck, Margarita, Nermien Zbidat, Eva Paddenberg, et al. "Transforming Growth Factor Beta Receptor 2 (TGFBR2) Promoter Region Polymorphisms May Be Involved in Mandibular Retrognathism." BioMed Research International 2022 (June 15, 2022): 1–7. http://dx.doi.org/10.1155/2022/1503052.

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Skeletal malocclusions are common phenotypes in humans and have a strong influence on genetic factors. Transforming growth factor beta (TGFβ) controls numerous functions of the human body, including cell proliferation, differentiation, and migration. Thus, this study is aimed at evaluating whether genetic polymorphisms in TGFB1 and its receptor TGFBR2 are associated with mandibular retrognathism in German children and adolescents. Children and teenagers older than 8 years in the mixed or permanent dentition were included in this study. Patients with syndromes and facial trauma and patients wit

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Pauly, M., G. Mahon, M. A. Dicato, B. Metzger, and A. Menzel. "Single Nucleotide Polymorphisms (SNP'S) in the P53, SMAD7 and TGFBR1 Genes Associated with Advanced Colorectal Cancer in Caucasian Patients Compared to Healthy Controls." Annals of Oncology 23 (September 2012): ix209. http://dx.doi.org/10.1016/s0923-7534(20)33231-2.

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Kim, Dong Hwan (Dennis), Jina Yun, Jee Hyun Kong та ін. "Single Nucleotide Polymorphism (SNP) Approach of Multiple Candidate Pathways Predicting the Risk of Acute / Chronic Graft-Versus-Host Disease or Transplant Outcomes Following Allogeneic Hematopoietic Stem Cell Transplantation: Potential Involvement of Nuclear Factor Kappa-B (NFKB), Platelet-Derived Growth Factor (PDGF) and Transforming Growth Factor-Beta (TGF-β) Pathway with Chronic Graft-Versus-Host Disease Graft-Versus-Host Disease." Blood 114, № 22 (2009): 2221. http://dx.doi.org/10.1182/blood.v114.22.2221.2221.

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Abstract Abstract 2221 Poster Board II-198 Background: Acute graft-versus-host disease (GVHD) was known to be involved in the Th1 cytokine activation and alloreactive T-cell cytotoxicity, while the pathogenesis of chronic GVHD is yet revealed fully although in which Th2 cytokine activation or transforming growth factor (TGF) mediated pathway was suggested to be involved. The current study is a hypothesis generating study in order to identify potential predictive surrogate associated with the risk of acute or chronic GVHD in addition with transplant outcomes after allogeneic hematopoietic stem

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Chen, Ruo-Xi, Wen-Min Lu, Mei-Ping Lu та ін. "Polymorphisms in MicroRNA Target Sites of TGF-β Signaling Pathway Genes and Susceptibility to Allergic Rhinitis". International Archives of Allergy and Immunology 182, № 5 (2021): 399–407. http://dx.doi.org/10.1159/000511975.

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<b><i>Background:</i></b> The polymorphisms inside microRNA target sites locating in the 3′-UTR region may introduce the microRNA-binding changes, which may regulate the gene expression and correlate with the potential diseases. <b><i>Objectives:</i></b> We aimed to investigate whether the polymorphisms in microRNA target sites of transforming growth factor beta (TGF-β) signaling pathway genes are associated with the susceptibility of mite-sensitized allergic rhinitis (AR) in a Han Chinese population. <b><i>Methods:</i></b&g

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Kim, Dennis Dong Hwan, Hong-Hee Won, Wei Xu, et al. "The Risk of Organ Specific Graft-Versus-Host Disease Can Be Predicted by the Multiple Single Nucleotide Polymorphism Based Predictive Models." Blood 120, no. 21 (2012): 3056. http://dx.doi.org/10.1182/blood.v120.21.3056.3056.

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Abstract Abstract 3056 Background: The pathogenesis of GVHD is not fully understood. Alloreactive T-lymphocytes are believed to be key mediators of GVHD. However, it is not clear if the pathobiology of GHVD is similar in each target organ GVHD. We aimed to identify predictive single nucleotide polymorphisms (SNP) markers associated with the risk of acute or chronic graft versus host disease (GVHD) as well as organ specific GVHD in 394 transplant recipients and donors. Methods: A total of 259 SNPs were genotyped in 53 genes, and evaluated for the risk of acute/chronic GVHD and organ specific GV

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Thorne, Jacob W., Reid Redden, Scott A. Bowdridge, Gabrielle M. Becker, Morgan R. Stegemiller, and Brenda M. Murdoch. "PSV-B-21 Genome-Wide Analysis of Sheep Artificially or Naturally Infected with Gastrointestinal Nematodes." Journal of Animal Science 100, Supplement_3 (2022): 307–8. http://dx.doi.org/10.1093/jas/skac247.560.

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Abstract Gastrointestinal nematodes (GIN) are detrimental to the health and productivity of sheep across the world, necessitating genetic selection for improved GIN resistance. In this study, we used genomic analyses across- and within- two important breeds in the United States (US), Rambouillet and Dorper, to investigate physiological mechanisms associated with GIN resistance. Genomic data were evaluated from two experiments where lambs were challenged with GIN, either in a natural environment or artificially. Lambs were genotyped with the Axiom™ Ovine Genotyping Array (50K) with 42,608 singl

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Weener, M. E., N. A. Bakunina, J. M. Salmasi, et al. "Genetic testing of ocular manifestations of proliferative syndrome to provide pathophysiology-oriented treatment." Russian Journal of Clinical Ophthalmology 22, no. 1 (2022): 16–22. http://dx.doi.org/10.32364/2311-7729-2022-22-1-16-22.

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Background: uncontrolled cell proliferation of the ocular blood network is one of the leading causes of blindness and low vision worldwide. We summarize relevant published data and our 5-year experience in searching treatment tools for excessive non-productive proliferation. Aim: to describe genetic patterns in patients with ocular blood network proliferation for predicting disease course and selecting adequate treatment. Patients and Methods: 1210 patients with proliferative ocular disorders, retinopathy of prematurity, and diabetes were enrolled. Patients were divided into three groups: (1)

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Omori, A., C. Stephens, J. Cooc, et al. "Microarray analysis of formalin-fixed paraffin-embedded specimens shows distinct gene expression patterns in tumors containing the transforming growth factor beta receptor 6A polymorphism (TGFBR1*6A)." Journal of Clinical Oncology 25, no. 18_suppl (2007): 4111. http://dx.doi.org/10.1200/jco.2007.25.18_suppl.4111.

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4111 Introduction: A frequent polymorphism of the type I transforming growth factor beta receptor (TGFBR1) is TGFBR1*6A (6A), which has a deletion of 3 CGC triplets coding for alanine within a 9-alanine (9A) repeat of TGFBR1 exon 1. 6A may act as a tumor susceptibility allele through switching TGF-beta growth inhibitory signals into growth stimulatory signals and also appears to be acquired in some cases by primary colon cancers and their liver metastases. Our aim in this study was to compare the gene expression profiles of colorectal tumors bearing the 6A and the more common 9A genotypes to d

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Alves, Ana Paula V. D., Amanda B. Freitas, José Eduardo Levi, et al. "COL1A1, COL4A3, TIMP2 and TGFB1 polymorphisms in cervical insufficiency." Journal of Perinatal Medicine 49, no. 5 (2021): 553–58. http://dx.doi.org/10.1515/jpm-2020-0320.

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Abstract Objectives To investigate the association between selected single nucleotide polymorphisms (SNPs) with cervical insufficiency and its relationship with obstetric history. Methods Twenty-eight women with cervical insufficiency (case group) and 29 non-pregnant women (control group) were included. The SNPs sequenced included rs2586490 in collagen type I alpha 1 chain (COL1A1), rs1882435 in collagen type IV alpha 3 chain (COL4A3), rs2277698 in metallopeptidase inhibitor 2 (TIMP2), and rs1800468 in transforming growth factor beta 1 (TGFB1). Results We found a higher frequency of the normal

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Al-Harbi, Najla M., Sara S. Bin Judia, Krishna N. Mishra, Mohamed M. Shoukri, and Ghazi A. Alsbeih. "Genetic Predisposition to Cervical Cancer and the Association With XRCC1 and TGFB1 Polymorphisms." International Journal of Gynecologic Cancer 27, no. 9 (2017): 1949–56. http://dx.doi.org/10.1097/igc.0000000000001103.

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ObjectiveCervical carcinoma (CC), a multifactorial cancer, is assumed to have a host genetic predisposition component that modulates its susceptibility in various populations. We investigated the association between CC risk in Saudi women and 6 single-nucleotide polymorphisms (SNPs) in hypothesis-driven candidate genes.MethodsA total of 545 females were included, comprising 232 CC patients and 313 age-/sex-matched control subjects. Six SNPs (CDKN1A C31A, ATM G1853A, HDM2 T309G, TGFB1 T10C, XRCC1 G399A, and XRCC3 C241T) were genotyped by direct sequencing.ResultsOf the 6 SNPs studied, TGFB1 T10

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Zakrzewski, Piotr K., Ewa Forma, Adam I. Cygankiewicz, et al. "Betaglycan Gene (TGFBR3) Polymorphism Is Associated with Increased Risk of Endometrial Cancer." Journal of Clinical Medicine 9, no. 10 (2020): 3082. http://dx.doi.org/10.3390/jcm9103082.

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We investigated single nucleotide polymorphism (SNP) of the betaglycan gene (TGFBR3) encoding the TGFβ co-receptor in endometrial cancer (EC) and its association with betaglycan expression. The study group included 153 women diagnosed with EC and 248 cancer-free controls. SNP genotyping and gene expression were analyzed using TaqMan probes. Three out of the eight SNPs tested, i.e., rs12566180 (CT; OR = 2.22; 95% CI = 1.15–4.30; p = 0.0177), rs6680463 (GC; OR = 2.34; 95% CI = 1.20–4.53; p = 0.0120) and rs2296621 (TT; OR = 6.40; 95% CI = 1.18–34.84; p = 0.0317) were found to be significantly ass

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Flanagan, Jonathan M., Denise M. Frohlich, Thad A. Howard, et al. "Genetic predictors for stroke in children with sickle cell anemia." Blood 117, no. 24 (2011): 6681–84. http://dx.doi.org/10.1182/blood-2011-01-332205.

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Abstract Stroke is a devastating complication of sickle cell anemia (SCA), affecting 5% to 10% of patients before adulthood. Several candidate genetic polymorphisms have been proposed to affect stroke risk, but few have been validated, mainly because previous studies were hampered by relatively small sample sizes and the absence of additional patient cohorts for validation testing. To verify the accuracy of proposed genetic modifiers influencing stroke risk in SCA, we performed genotyping for 38 published single nucleotide polymorphisms (SNPs), as well as α-thalassemia, G6PD A− variant deficie

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Lee, Eunyoung, Yun-Gyoo Lee, Inho Kim, et al. "Impact of Cytokine Gene Polymorphisms on Risk and Treatment Outcomes of Aplastic Anemia." Blood 118, no. 21 (2011): 4369. http://dx.doi.org/10.1182/blood.v118.21.4369.4369.

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Abstract Abstract 4369 Immunosuppressive therapy (IST) is one of the main treatment modalities for acquired aplastic anemia (AA). Approximately 70% of AA patients have been known to achieve clinical improvements with IST consisting of antithymocyte globulin (ATG) and cyclosporine. This remarkably high response rate supports us to tell the immunogenic pathophysiology of AA. Autoreactive cytotoxic T cells play a key role in this immunogenic pathogenesis of AA by working with myelosuppressive cytokines like interferon-gamma (IFN-γ), tumor necrosis factor alpha (TNFα), and transforming growth fact

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Gritsenko, O. V., G. A. Chumakova, O. V. Gruzdeva, A. V. Ponasenko, and O. L. Barbarash. "Profibrotic genetic polymorphisms as possible risk factors for the development of diastolic dysfunction in patients with epicardial adiposity." Russian Journal of Cardiology 27, no. 10 (2022): 5208. http://dx.doi.org/10.15829/1560-4071-2022-5208.

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Aim. To determine the associations of variable sites of fibrogenesis genes with the risk of left ventricular (LV) diastolic dysfunction (DD) in patients with epicardial adiposity (EA).Material and methods. The study included 101 men with general obesity (Altai Territory) without cardiovascular diseases, diabetes and documented LVDD, of which, after determining the epicardial fat thickness (EFT), 2 groups were formed: group 1 — with EA (EA+), EFT ≥7 mm or more (n=70); group 2 — without EA (EA-), EFT <7 mm (n=31). The control group was formed from Kemerovo region residents of the correspondin

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Gonçalves Junior, Roberto, Aristides da Rosa Pinheiro, José Jorge Schoichet, et al. "MMP13, TIMP2 and TGFB3 Gene Polymorphisms in Brazilian Chronic Periodontitis and Periimplantitis Subjects." Brazilian Dental Journal 27, no. 2 (2016): 128–34. http://dx.doi.org/10.1590/0103-6440201600601.

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Abstract Subjects susceptible to chronic periodontitis (CP) show a high risk for the development of peiimplantitis (PI). Both diseases are multifactorial, presenting similarities in their pathophysiology and polygenic profile. MMP-13 (matrix metalloproteinases 13/ collagenase 3) is a collagenolytic enzyme, which expression is induced by TGF beta 3 (transforming growth factor type 3) in human gingival fibroblasts and inhibited by TIMP-2 (tissue inhibitor of metalloproteinase type 2). The aim of this study was to investigate the occurrence of peiimplantitis (PI) in subjects with history of chron

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Berro, Mariano, Virginia Palau, Maria Marta Rivas, et al. "TGFB1 Functional Polymorphisms in Sibling HSCT. "Tto be or Not Tto be"." Blood 126, no. 23 (2015): 4275. http://dx.doi.org/10.1182/blood.v126.23.4275.4275.

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Abstract Allogeneic hematopoietic stem cell transplantation (HSCT) using sibling donors is a life-saving intervention for patients with hematological malignancies. It is recognized that numerous genetic factors in both patient and donor play a role in the outcome of the procedure. TGF beta 1 is a member of a highly pleiotrophic family of growth factors involved in the regulation of numerous immunomodulatory processes. Several functional polymorphisms have been identified in TGF-B1 gene, such as a single nucleotide polymorphism (SNP) at codon 10 of exon 1. We have previously published significa

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Berro, Mariano, Louise Cooke, Neema P. Mayor, et al. "TGFB1 Functional Polymorphisms: Impact on Outcome in Allogeneic Unrelated Donor Haematopoietic Stem Cell Transplantation." Blood 112, no. 11 (2008): 3011. http://dx.doi.org/10.1182/blood.v112.11.3011.3011.

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Abstract Allogeneic haematopoietic stem cell transplantation (HSCT) using volunteer unrelated donors (UD) is a life-saving intervention for patients with haematological malignancies. It is recognised that numerous genetic factors in both patient and donor play a role in outcome. TGF beta 1 is a member of a highly pleiotrophic family of growth factors involved in the regulation of numerous immunomodulatory processes and may play a role in carcinogenesis. Several functional polymorphisms have been identified, such as a single nucleotide polymorphism (SNP) at codon 10 (c.29T&gt;C, p.L10P) of

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Li, Xiang-Ting, Chang-Qing Shen, Rui Zhang, et al. "Association of TGFBR2 rs6785358 Polymorphism with Increased Risk of Congenital Ventricular Septal Defect in a Chinese Population." Pediatric Cardiology 36, no. 7 (2015): 1476–82. http://dx.doi.org/10.1007/s00246-015-1189-2.

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Driscoll, M. Catherine, Joseph Devaney, Heather Gordish, Caterina Minniti, and Eric P. Hoffman. "Genetic Modifiers of Cerebrovascular Large Vessel Stenosis in Sickle Cell Anemia." Blood 104, no. 11 (2004): 1658. http://dx.doi.org/10.1182/blood.v104.11.1658.1658.

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Abstract Cerebrovascular disease is a common complication in sickle cell anemia (SCA) with overt stroke occuring in 10% of patients and silent stroke in 24% of patients by age 20 years. Etiologies of overt stroke in SCA are heterogenous and include stenosis of large arteries, hemorrhage, hypertensive and hypoxic encephalopathy. Candidate genes identified as possible modifiers of overt stroke in SCA include adenylate cyclase 9 (ADCY9, rs731471 intron C/T), endothelin-converting enzyme (ECE-1, rs212527, intron A/G), Klotho (KL, rs480780, intron C/A), plasminogen activator inhibitor-1 (PAI-1, rs1

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Mooney, Rachel E., Gerry J. Linden, Lewis Winning, et al. "Association of TGFB1 rs1800469 and BCMO1 rs6564851 with coronary heart disease and IL1B rs16944 with all-cause mortality in men from the Northern Ireland PRIME study." PLOS ONE 17, no. 8 (2022): e0273333. http://dx.doi.org/10.1371/journal.pone.0273333.

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Background Historically, high levels of morbidity and mortality have been associated with cardiovascular disease in the Northern Ireland population. Previously reported associations between single nucleotide polymorphisms (SNPs) and cardiovascular disease within other populations have not always been consistent. Objective To investigate associations between 33 SNPs with fatal or non-fatal incident coronary heart disease (CHD) events and all-cause mortality in the Northern Irish participants of the Prospective Epidemiological Study of Myocardial Infarction (PRIME). Method Phase 2 of the PRIME s

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Yuan, Xianglin, Zhongxing Liao, Zhensheng Liu та ін. "Single Nucleotide Polymorphism at rs1982073:T869C of the TGFβ1 Gene Is Associated With the Risk of Radiation Pneumonitis in Patients With Non–Small-Cell Lung Cancer Treated With Definitive Radiotherapy". Journal of Clinical Oncology 27, № 20 (2009): 3370–78. http://dx.doi.org/10.1200/jco.2008.20.6763.

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Purpose In search of reliable biologic markers to predict the risk of normal tissue damage by radio(chemo)therapy before treatment, we investigated the association between single nucleotide polymorphisms (SNPs) in the transforming growth factor 1 (TGFβ1) gene and risk of radiation pneumonitis (RP) in patients with non–small-cell lung cancer (NSCLC). Patients and Methods Using 164 available genomic DNA samples from patients with NSCLC treated with definitive radio(chemo)therapy, we genotyped three SNPs of the TGFβ1 gene (rs1800469:C-509T, rs1800471:G915C, and rs1982073:T869C) by polymerase chai

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Flanagan, Jonathan Michael, Thad A. Howard, Denise M. Frohlich, et al. "Validation of Genetic Predictors for Stroke In Children with Sickle Cell Anemia." Blood 116, no. 21 (2010): 2639. http://dx.doi.org/10.1182/blood.v116.21.2639.2639.

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Abstract Abstract 2639 Introduction: Stroke is perhaps the most catastrophic complication of sickle cell anemia (SCA), occurring in 11% of patients with SCA before 20 years of age. There is a definite need for biomarkers that could predict which children with SCA are at greatest risk for developing these irreversible cerebrovascular events. Many candidate genetic polymorphisms have been proposed to affect stroke risk but few have been validated, mainly due to the lack of additional patient cohorts. To validate the accuracy of published genetic modifiers, we genotyped polymorphisms in two large

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Onyeneho, Karyn. "Genetic Determinants of Type 2 Diabetes Mellitus in Adults of African Ancestry: Identification of the Associated Factors." Current Developments in Nutrition 6, Supplement_1 (2022): 1121. http://dx.doi.org/10.1093/cdn/nzac078.015.

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Abstract Objectives H1: ADCYAP1R1, BDNF, CD36, HDAC4, NOS3, PON1, TCF7L2, TGFB1 were predominant in adults of African ancestry with or without T2DM. H2: There is a relationship between HBA1C, TG, LDL, FG, FI and genetic associations among adults of African ancestry and the following: H2a: ACGT risk alleles H2b: Chromosomal regions 2, 7, 10, 11, 19 H2c: Sequence variant impacts: intergenic, intron, missense, and synonymous H2d: Minor allele frequencies &lt; .05 H2e: Lead reference SNPs H2f: Variant coordinates H3: ALDH1A1, B3GALT2, C8orf37, CASP16, CCSAP, CDKN2B, CHRNA5, CRNN, CYP7B1, FAT4,

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Park, Eunkyung, Song Joo Yang, Inho Kim, Eun Hyung Jeon, and Seonyang Park. "Genome-Wide Association Study for Determinants of Acute Graft Vs Host Disease (aGVHD) After Allogeneic Hematopoietic Stem Cell Transplantation: Development of 7 SNP Model Predicting aGVHD." Blood 118, no. 21 (2011): 1010. http://dx.doi.org/10.1182/blood.v118.21.1010.1010.

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Abstract Abstract 1010 Background: Numerous studies have been reported non-HLA genetic associations with acute graft vs host disease (aGVHD) developing after allogeneic hematopoietic stem cell transplantation (allo-HSCT). So far, however, relatively few genes have been examined in each cohort. Meanwhile, aGVHD represents one of the most attractive targets to study the effect of normally silent genetic polymorphisms. We intended to elucidate genetic determinants predicting aGVHD in patients undergoing allo-HSCT by genome-wide screening of genetic polymorphisms, and develop a SNP model to predic

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Chen, Rong-Fu, Lin Wang, Jiin-Tsuey Cheng та ін. "Combination of CTLA-4 and TGFβ1 gene polymorphisms associated with dengue hemorrhagic fever and virus load in a dengue-2 outbreak". Clinical Immunology 131, № 3 (2009): 404–9. http://dx.doi.org/10.1016/j.clim.2009.01.015.

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Sebastiani, Paola, Ling Wang, Thomas Perls, et al. "A Repertoire of Genes Modifying the Risk of Death in Sickle Cell Anemia." Blood 110, no. 11 (2007): 150. http://dx.doi.org/10.1182/blood.v110.11.150.150.

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Abstract Phenotypic heterogeneity is a well known characteristic of sickle cell anemia. Patients have different rates of hemolysis-related complications, like pulmonary hypertension, priapism and leg ulceration, and viscosity/vasoocclusion-related complications, like painful episodes, acute chest syndrome and osteonecrosis; they also have variation in levels of HbF and hematocrit. To integrate individual disease variables into a global measure of severity, we developed a Bayesian network model that described the complex associations of 25 clinical and laboratory variables, deriving a score tha

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Laky, Karen, Jessica Kinard, Anthony Guerrerio та Pamela Frischmeyer-Guerrerio. "Altered TGFβ signaling in non-hematopoietic cells leads to eosinophilic esophagitis." Journal of Immunology 200, № 1_Supplement (2018): 104.11. http://dx.doi.org/10.4049/jimmunol.200.supp.104.11.

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Abstract Eosinophilic esophagitis (EoE) is a chronic immune-mediated disease characterized by esophageal inflammation and dysfunction. Among the top ten single nucleotide polymorphisms (SNPs) that are associated with EoE susceptibility, approximately one third are in genes that encode proteins involved in transforming growth factor beta (TGFβ) signaling. Patients and mice heterozygous for a mutation in the kinase domain of TGFβR1 (TGFBR1M318R+/−) exhibit cardiovascular, skeletal, pulmonary, and immune manifestations of Loeys-Dietz Syndrome (LDS). Immune manifestations of LDS include elevated s

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Schipp, Cyrill, Arndt Borkhardt, Polina Stepensky, and Ute Fischer. "Identifying Possible Candidate Factors Influencing the Penetrance of Heterozygous NFKB1 Loss of Function Mutations By Whole Exome Sequencing." Blood 128, no. 22 (2016): 3706. http://dx.doi.org/10.1182/blood.v128.22.3706.3706.

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Abstract Introduction The NFκB signaling pathway is a master regulator of immune and inflammatory responses. Recently we and other groups reported heterozygous NFKB1 loss-of-function mutations in patients with combined variable immunodeficiency (CVID) characterized by recurrent infections, autoimmunity and immunoglobulin deficiency. Pedigree analysis revealed incomplete penetrance of the disease causing mutation in 5 of the 6 analyzed families. While patients showed a severe phenotype including hypogammaglobulinemia, chronic infections and cytopenias, other carriers of the same mutation were u

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Martinez-Castaldi, Carolina, Vikki G. Nolan, Clinton T. Baldwin, Lindsay A. Farrer, Martin H. Steinberg та Elizabeth S. Klings. "Association of Genetic Polymorphisms in the TGF-β Pathway with the Acute Chest Syndrome of Sickle Cell Anemia." Blood 110, № 11 (2007): 2247. http://dx.doi.org/10.1182/blood.v110.11.2247.2247.

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Abstract Acute chest syndrome (ACS), a leading cause of morbidity and mortality in sickle cell anemia (HbSS), is thought to be multi-factorial in etiology. Prior small studies have implicated genes related to endothelial dysfunction in this process. We performed a candidate gene analysis on 1442 subjects with HbSS, with or without coincident α-thalassemia, enrolled in the Cooperative Study of Sickle Cell Disease, to identify genes associated with an increased risk of ACS. The etiology and clinical course of ACS for patients younger than 4 years is thought to be different from that in older age

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Krela-Kaźmierczak, I., M. Michalak, A. Wawrzyniak, et al. "The c.29T>C polymorphism of the transforming growth factor beta-1 (TGFB1) gene, bone mineral density and the occurrence of low-energy fractures in patients with inflammatory bowel disease." Molecular Biology Reports 44, no. 6 (2017): 455–61. http://dx.doi.org/10.1007/s11033-017-4131-2.

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Saidakramovich, Khasanov Ulugbek, and Sharipov Sanjar Salomovich*. "Analysis of Associative Relationship of Allelic and Genotypical Variants of Polymorphism Rs 2010963 of the VEGFA Gene with Formation and Development of Ronchopathy." International Journal of Advanced Dental Sciences and Technology 1, no. 2 (2021): 1–5. http://dx.doi.org/10.35940/ijadst.b1002.081221.

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It is interesting to note that the adverse effect of this genotype was observed exclusively in patients with ronchopathy, while in patients with ronchopathy, the frequency of this genotype did not differ in comparison with the control group, i.e. there is a significant tendency to an increase in the genotype with an increase in the severity of the pathology. Material and methods. To solve the set tasks, 208 patients with various diseases of the upper respiratory tract, with nasal breathing disorders, causing ronchopathy, who were hospitalized in the ENT department of the multidisciplinary clin

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Saidakramovich, Khasanov Ulugbek, and Sharipov Sanjar Salomovich. "Analysis of Associative Relationship of Allelic and Genotypical Variants of Polymorphism Rs 2010963 of the VEGFA Gene with Formation and Development of Ronchopathy." International Journal of Advanced Dental Sciences and Technology 1, no. 2 (2021): 1–5. http://dx.doi.org/10.54105/ijadst.b1002.081221.

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It is interesting to note that the adverse effect of this genotype was observed exclusively in patients with ronchopathy, while in patients with ronchopathy, the frequency of this genotype did not differ in comparison with the control group, i.e. there is a significant tendency to an increase in the genotype with an increase in the severity of the pathology. Material and methods. To solve the set tasks, 208 patients with various diseases of the upper respiratory tract, with nasal breathing disorders, causing ronchopathy, who were hospitalized in the ENT department of the multidisciplinary clin

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Concas, Maria Pina, Anna Morgan, Fabrizio Serra, et al. "Hearing Function: Identification of New Candidate Genes Further Explaining the Complexity of This Sensory Ability." Genes 12, no. 8 (2021): 1228. http://dx.doi.org/10.3390/genes12081228.

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To date, the knowledge of the genetic determinants behind the modulation of hearing ability is relatively limited. To investigate this trait, we performed Genome-Wide Association Study (GWAS) meta-analysis using genotype and audiometric data (hearing thresholds at 0.25, 0.5, 1, 2, 4, and 8 kHz, and pure-tone averages of thresholds at low, medium, and high frequencies) collected in nine cohorts from Europe, South-Eastern USA, Caucasus, and Central Asia, for an overall number of ~9000 subjects. Three hundred seventy-five genes across all nine analyses were tagged by single nucleotide polymorphis

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Ayala de Miguel, Pablo, María Valle Enguix-Riego, Jon Cacicedo, et al. "Prognostic value of the TGFß1 rs4803455 single nucleotide polymorphism and its association with prophylactic cranial irradiation in small cell lung cancer." Journal of Clinical Oncology 38, no. 15_suppl (2020): e21038-e21038. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.e21038.

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e21038 Background: Small cell lung cancer (SCLC) is one of the greatest therapeutic challenges of oncology. Potential associations between single-nucleotide polymorphisms (SNP) in Heat shock protein beta- 1 (HSPB1) and Transforming growth factor (TGFß1) and survival have been investigated. Methods: A prospective multicenter study of 94 SCLC patients treated between 2013 and 2016 was conducted. Several variables clinical, tumour-related, therapeutic, and genetic (9 SNPs of TGFß1 gene and 5 of HSPB1 gene) variables were analyzed. Results: The cohort included 77 men and 17 women with a median age

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Adewoye, Adeboye H., Vikki G. Nolan, Clinton T. Baldwin та ін. "Association of Polymorphisms of the Transforming Growth Factor-β/Bone Morphogenetic Protein (TGF-β/BMP) Pathway with Sickle Cell Bacteremia." Blood 106, № 11 (2005): 3170. http://dx.doi.org/10.1182/blood.v106.11.3170.3170.

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Abstract Patients with sickle cell disease have an increased risk of bacteremia. To study the genetic basis for this increased susceptibility we studied the association of single nucleotide polymorphisms (SNPs) in candidate genes that might affect the risk of infection and therefore bacteremia. The Cooperative Study of Sickle Cell Disease enrolled 4,082 patients who were observed for about 5 years. Blood from these patients was used for globin gene analysis and SNP genotyping. We limited the present studies to patients with sickle cell anemia, with or without coincident α thalassemia, yielding

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Ashley-Koch, Allison E., Laura M. De Castro, Felicia Lennon-Graham, et al. "Priapism in SCD: Clinical and Genetic Correlations." Blood 106, no. 11 (2005): 3174. http://dx.doi.org/10.1182/blood.v106.11.3174.3174.

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Abstract Priapism is a complication of sickle cell disease (SCD) that occurs due to obstruction of the corpora cavernosa of the penis. We have studied priapism in relation to several clinical and genetic factors in 249 adult male patients with SCD, 92 (37%) of whom reported a positive history of priapism. The mean age of male patients without a history of priapism was 35.2 years (± 10.8 years) compared with a mean age of 36.4 years (± 11.3 years) in male patients with a positive history of priapism. Because of the possible relationship with nitric oxide biology, we examined the co-occurrence o

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Martin-Antonio, Beatriz, Rocio Cardesa, Isabel Álvarez, et al. "Genetic Variability In the Transcriptional Factor EP300 Strongly Influences the Clinical Outcome of Allogeneic Stem Cell Transplantation (Allo-SCT)." Blood 116, no. 21 (2010): 527. http://dx.doi.org/10.1182/blood.v116.21.527.527.

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Abstract Abstract 527 Despite considerable progress in the management of infections, in more stringent criteria for HLA compatibility, in the use of new immunosuppressive drugs and in tailored conditioning regimens, allo-SCT is still associated with a considerable morbidity and mortality, especially due to infection and leukemic relapse. Little is known about the relative importance of genetic characteristics that influence individual responses to infection and to malignant cells. We hypothesized that individual non-HLA genetic characteristics of the donor and/or recipient may influence the de

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Giraud, Sophie, Claire Bardel, Sophie Dupuis-Girod, et al. "Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia." Orphanet Journal of Rare Diseases 15, no. 1 (2020). http://dx.doi.org/10.1186/s13023-020-01533-2.

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Abstract Background Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by multiple telangiectases and caused by germline disease-causing variants in the ENG (HHT1), ACVRL1 (HHT2) and, to a lesser extent MADH4 and GDF2, which encode proteins involved in the TGF-β/BMP9 signaling pathway. Common visceral complications of HHT are caused by pulmonary, cerebral, or hepatic arteriovenous malformations (HAVMs). There is large intrafamilial variability in the severity of visceral involvement, suggesting a role for modifier genes. The objective of the present stu

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Zhang, Xiaoying, Shasha Yu, Wencai Chen, Jianfei Ren та Xiaofeng Chen. "Abstract 246: TGF-β1 and TGFBR2 Polymorphisms With ISH". Arteriosclerosis, Thrombosis, and Vascular Biology 37, suppl_1 (2017). http://dx.doi.org/10.1161/atvb.37.suppl_1.246.

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Background and Objective: Isolated systolic hypertension (ISH) is characterized by increased aortic stiffness and associated with a significantly increased risk of cardiovascular morbidity and mortality. It has been reported that elevated plasma transforming growth factor-beta 1(TGF-β1)levels predicted development of hypertension. However, little is known about the association of TGF- β 1 pathway gene polymorphisms and ISH. The aim of the present study was to study the association of transforming growth factor-beta 1(TGF-β1)and its receptor 2(TGFBR2)functional gene polymorphisms with isolated

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Varghese, Sindhu, та Subbaraj Gowtham Kumar. "Role of eNOS and TGFβ1 gene polymorphisms in the development of diabetic nephropathy in type 2 diabetic patients in South Indian population". Egyptian Journal of Medical Human Genetics 23, № 1 (2022). http://dx.doi.org/10.1186/s43042-022-00216-w.

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Abstract Background Diabetic nephropathy is known to be a leading complication of diabetes mellitus, characterized by diverse aspects such as high urinary albumin level, elevated blood pressure, and genetic susceptibility leading to end-stage renal disease. The current study was carried out to investigate the association of eNOS and TGFβ1 gene polymorphisms in the progression of diabetic nephropathy among type 2 diabetic patients in the South Indian population. The eNOS and TGFβ1 genetic variants were genotyped in 280 T2DM patients, 140 with DN, 140 without DN, and 140 controls. Genotyping was

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Hassab, Hoda, Marwa Hanafi, Ahmed Elbeheiry, Mona Hassan, and Yasmine El Chazli. "Does TGFBR3 Polymorphism Increase the Risk of Silent Cerebral Infarction in Egyptian Children with Sickle Cell Disease?" Indian Journal of Pediatrics, July 4, 2022. http://dx.doi.org/10.1007/s12098-022-04181-5.

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Abstract Objectives To evaluate the relationship between TGFBR3 rs284875 single nucleotide polymorphism (SNP) state and silent cerebral infarction (SCI) in asymptomatic patients with sickle cell disease (SCD). Methods A cross-sectional study was conducted on 50 children with SCD above 2 y of age followed up at the hematology outpatient clinic of Alexandria University Children's Hospital in Egypt. Twenty-four healthy children were included as a control group. All patients included in the study were subjected to complete history and clinical examination. Real-time polymerase chain reaction was p

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Corredor, Zuray, Miguel Inácio da Silva Filho, Lara Rodríguez-Ribera, et al. "Genetic Variants Associated with Chronic Kidney Disease in a Spanish Population." Scientific Reports 10, no. 1 (2020). http://dx.doi.org/10.1038/s41598-019-56695-2.

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AbstractChronic kidney disease (CKD) patients have many affected physiological pathways. Variations in the genes regulating these pathways might affect the incidence and predisposition to this disease. A total of 722 Spanish adults, including 548 patients and 174 controls, were genotyped to better understand the effects of genetic risk loci on the susceptibility to CKD. We analyzed 38 single nucleotide polymorphisms (SNPs) in candidate genes associated with the inflammatory response (interleukins IL-1A, IL-4, IL-6, IL-10, TNF-α, ICAM-1), fibrogenesis (TGFB1), homocysteine synthesis (MTHFR), DN

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Lee, Daniel, Clement K. Chan, Prema Abraham, and David Sarraf. "Post-hoc analysis of single nucleotide polymorphism profile for eyes with vascularized pigment epithelial detachment due to ARMD." European Journal of Ophthalmology, June 24, 2020, 112067212093282. http://dx.doi.org/10.1177/1120672120932829.

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Introduction: This post-hoc case-control study compares single nucleotide polymorphism (SNP) profile of eyes with vascularized pigment epithelial detachment (vPED) due to age-related macular degeneration (ARMD) with: (1) Control-1 eyes (no ARMD and AREDS Severity Scale 0); and (2) Control-2 eyes (drusen or AREDS Severity Scale 2). SNP profile of High Responders (HR) was also compared with Low Responders (LR) to ranibizumab. Methods: Blood samples from 40 patients with vPED treated with ranibizumab were sent for SNP-specific genotype analysis for comparison of variant allele frequencies of 23 S

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"Preliminary results of the investigations regarding the association of transforming growth factor- beta1 (TGFB1) gene polymorphism to metabolic syndrome in a Romanian patients group." Biointerface Research in Applied Chemistry 9, no. 3 (2019): 3974–78. http://dx.doi.org/10.33263/briac93.974978.

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Genetic factors have a variable impact in predisposition for common chronic diseases, such as those grouped as metabolic syndrome (MS). MS, obesity, type 2 diabetes and hypertension have a common factor, represented by the inflammatory processes. There are numerous susceptibility genes associated with inflammation and these diseases; one gene of them is transforming growth factor –beta1 (TGFB1) gene. The promoter SNP TGFb1 -509C>T (rs1800469) has been reported as the risk factor associated with diabetes, kidney and heart diseases in European population. This work describes the distribution

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Mališić, Emina, Nina Petrović, Muriel Brengues, et al. "Association of polymorphisms in TGFB1, XRCC1, XRCC3 genes and CD8 T-lymphocyte apoptosis with adverse effect of radiotherapy for prostate cancer." Scientific Reports 12, no. 1 (2022). http://dx.doi.org/10.1038/s41598-022-25328-6.

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AbstractThe genetic background of each person might affect the severity of radiotherapy (RT)-induced normal tissue toxicity. The aim of study was to evaluate the influence of TGFB1 C-509T and Leu10Pro, XRCC1 Arg280His and XRCC3 Thr241Met polymorphisms as well as the level of radiation-induced CD8 T-lymphocyte apoptosis (RILA) on adverse effects of RT for prostate cancer (PCa). The study included 88 patients with localized or locally advanced PCa who were treated with RT. The polymorphisms were determined by PCR–RFLP analysis on DNA from peripheral blood mononuclear cells. RILA values were meas

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Yu, Guopeng, Bo Liang, Keneng Yin, et al. "Identification of Metabolism-Related Gene-Based Subgroup in Prostate Cancer." Frontiers in Oncology 12 (June 16, 2022). http://dx.doi.org/10.3389/fonc.2022.909066.

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Prostate cancer is still the main male health problem in the world. The role of metabolism in the occurrence and development of prostate cancer is becoming more and more obvious, but it is not clear. Here we firstly identified a metabolism-related gene-based subgroup in prostate cancer. We used metabolism-related genes to divide prostate cancer patients from The Cancer Genome Atlas into different clinical benefit populations, which was verified in the International Cancer Genome Consortium. After that, we analyzed the metabolic and immunological mechanisms of clinical beneficiaries from the as

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