The rs2304256 Polymorphism in TYK2 Gene Is Associated with Protection for Type 1 Diabetes Mellitus

Felipe Mateus Pellenz; Cristine Dieter; Guilherme Coutinho Kullmann Duarte; Luís Henrique Canani; Bianca Marmontel de Souza; Daisy Crispim

doi:10.4093/dmj.2020.0194

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저자정보: Felipe Mateus Pellenz (Hospital de Clínicas de Porto Alegre) Cristine Dieter (Hospital de Clínicas de Porto Alegre) Guilherme Coutinho Kullmann Duarte (Hospital de Clínicas de Porto Alegre) Luís Henrique Canani (Hospital de Clínicas de Porto Alegre) Bianca Marmontel de Souza (Hospital de Clínicas de Porto Alegre) Daisy Crispim (Hospital de Clínicas de Porto Alegre)

저널정보: 대한당뇨병학회 Diabetes and Metabolism Journal Diabetes and Metabolism Journal Vol.45 No.6

발행연도: 2021.11

수록면: 899 - 908 (10page)

DOI: 10.4093/dmj.2020.0194

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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.

#Autoimmune diseases #Diabetes mellitus #type 1 #Polymorphism #genetic #Polymorphism #single nucleotide #TYK2 kinase

참고문헌 (41)

참고문헌 신청

American Diabetes Association 2 / 2019 / Classification and diagnosis of diabetes : standards of medical care in diabetes-2019 / Diabetes Care 42(Suppl 1):S13~28

Redondo MJ / 2018 / Genetics of type 1 diabetes / Pediatr Diabetes 19:346~353

Eizirik DL / 2009 / The role of inflammation in insulitis and beta-cell loss in type 1 diabetes / Nat Rev Endocrinol 5:219~226

Nyaga DM / 2018 / The genetic architecture of type 1 diabetes mellitus / Mol Cell Endocrinol 477:70~80

Pociot F / 2016 / Genetic risk factors for type 1 diabetes / Lancet 387:2331~2339

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