The rs2304256 Polymorphism in Gene Is Associated with Protection for Type 1 Diabetes Mellitus

Background Tyrosine kinase 2 (TYK2) is a candidate gene for type 1 diabetes mellitus (T1DM) since it plays an important role in regulating apoptotic and pro-inflammatory pathways in pancreatic β-cells through modulation of the type I interferon signaling pathway. The rs2304256 single nucleotide poly...

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Autores principales:	Felipe Mateus Pellenz, Cristine Dieter, Guilherme Coutinho Kullmann Duarte, Luís Henrique Canani, Bianca Marmontel de Souza, Daisy Crispim
Formato:	article
Lenguaje:	EN
Publicado:	Korean Diabetes Association 2021
Materias:	autoimmune diseases diabetes mellitus, type 1 polymorphism, genetic polymorphism, single nucleotide tyk2 kinase Diseases of the endocrine glands. Clinical endocrinology RC648-665
Acceso en línea:	https://doaj.org/article/59e0aef457504c18868543cf88ef3278
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spelling	oai:doaj.org-article:59e0aef457504c18868543cf88ef32782021-12-01T05:07:51ZThe rs2304256 Polymorphism in Gene Is Associated with Protection for Type 1 Diabetes Mellitus2233-60792233-608710.4093/dmj.2020.0194https://doaj.org/article/59e0aef457504c18868543cf88ef32782021-11-01T00:00:00Zhttp://www.e-dmj.org/upload/pdf/dmj-2020-0194.pdfhttps://doaj.org/toc/2233-6079https://doaj.org/toc/2233-6087Background Tyrosine kinase 2 (TYK2) is a candidate gene for type 1 diabetes mellitus (T1DM) since it plays an important role in regulating apoptotic and pro-inflammatory pathways in pancreatic β-cells through modulation of the type I interferon signaling pathway. The rs2304256 single nucleotide polymorphism (SNP) in TYK2 gene has been associated with protection for different autoimmune diseases. However, to date, only two studies have evaluated the association between this SNP and T1DM, with discordant results. This study thus aimed to investigate the association between the TYK2 rs2304256 SNP and T1DM in a Southern Brazilian population. Methods This case-control study comprised 478 patients with T1DM and 518 non-diabetic subjects. The rs2304256 (C/A) SNP was genotyped by real-time polymerase chain reaction technique using TaqMan minor groove binder (MGB) probes. Results Genotype and allele frequencies of the rs2304256 SNP differed between T1DM patients and non-diabetic subjects (P<0.0001 and P=0.001, respectively). Furthermore, the A allele was associated with protection against T1DM under recessive (odds ratio [OR], 0.482; 95% confidence interval [CI], 0.288 to 0.806) and additive (OR, 0.470; 95% CI, 0.278 to 0.794) inheritance models, adjusting for human leukocyte antigen (HLA) DR/DQ genotypes, gender, and ethnicity. Conclusion The A/A genotype of TYK2 rs2304256 SNP is associated with protection against T1DM in a Southern Brazilian population.Felipe Mateus PellenzCristine DieterGuilherme Coutinho Kullmann DuarteLuís Henrique CananiBianca Marmontel de SouzaDaisy CrispimKorean Diabetes Associationarticleautoimmune diseasesdiabetes mellitus, type 1polymorphism, geneticpolymorphism, single nucleotidetyk2 kinaseDiseases of the endocrine glands. Clinical endocrinologyRC648-665ENDiabetes & Metabolism Journal, Vol 45, Iss 6, Pp 899-908 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	autoimmune diseases diabetes mellitus, type 1 polymorphism, genetic polymorphism, single nucleotide tyk2 kinase Diseases of the endocrine glands. Clinical endocrinology RC648-665
spellingShingle	autoimmune diseases diabetes mellitus, type 1 polymorphism, genetic polymorphism, single nucleotide tyk2 kinase Diseases of the endocrine glands. Clinical endocrinology RC648-665 Felipe Mateus Pellenz Cristine Dieter Guilherme Coutinho Kullmann Duarte Luís Henrique Canani Bianca Marmontel de Souza Daisy Crispim The rs2304256 Polymorphism in Gene Is Associated with Protection for Type 1 Diabetes Mellitus
description	Background Tyrosine kinase 2 (TYK2) is a candidate gene for type 1 diabetes mellitus (T1DM) since it plays an important role in regulating apoptotic and pro-inflammatory pathways in pancreatic β-cells through modulation of the type I interferon signaling pathway. The rs2304256 single nucleotide polymorphism (SNP) in TYK2 gene has been associated with protection for different autoimmune diseases. However, to date, only two studies have evaluated the association between this SNP and T1DM, with discordant results. This study thus aimed to investigate the association between the TYK2 rs2304256 SNP and T1DM in a Southern Brazilian population. Methods This case-control study comprised 478 patients with T1DM and 518 non-diabetic subjects. The rs2304256 (C/A) SNP was genotyped by real-time polymerase chain reaction technique using TaqMan minor groove binder (MGB) probes. Results Genotype and allele frequencies of the rs2304256 SNP differed between T1DM patients and non-diabetic subjects (P<0.0001 and P=0.001, respectively). Furthermore, the A allele was associated with protection against T1DM under recessive (odds ratio [OR], 0.482; 95% confidence interval [CI], 0.288 to 0.806) and additive (OR, 0.470; 95% CI, 0.278 to 0.794) inheritance models, adjusting for human leukocyte antigen (HLA) DR/DQ genotypes, gender, and ethnicity. Conclusion The A/A genotype of TYK2 rs2304256 SNP is associated with protection against T1DM in a Southern Brazilian population.
format	article
author	Felipe Mateus Pellenz Cristine Dieter Guilherme Coutinho Kullmann Duarte Luís Henrique Canani Bianca Marmontel de Souza Daisy Crispim
author_facet	Felipe Mateus Pellenz Cristine Dieter Guilherme Coutinho Kullmann Duarte Luís Henrique Canani Bianca Marmontel de Souza Daisy Crispim
author_sort	Felipe Mateus Pellenz
title	The rs2304256 Polymorphism in Gene Is Associated with Protection for Type 1 Diabetes Mellitus
title_short	The rs2304256 Polymorphism in Gene Is Associated with Protection for Type 1 Diabetes Mellitus
title_full	The rs2304256 Polymorphism in Gene Is Associated with Protection for Type 1 Diabetes Mellitus
title_fullStr	The rs2304256 Polymorphism in Gene Is Associated with Protection for Type 1 Diabetes Mellitus
title_full_unstemmed	The rs2304256 Polymorphism in Gene Is Associated with Protection for Type 1 Diabetes Mellitus
title_sort	rs2304256 polymorphism in gene is associated with protection for type 1 diabetes mellitus
publisher	Korean Diabetes Association
publishDate	2021
url	https://doaj.org/article/59e0aef457504c18868543cf88ef3278
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The rs2304256 Polymorphism in Gene Is Associated with Protection for Type 1 Diabetes Mellitus

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