PMID- 34225445
OWN - NLM
STAT- MEDLINE
DCOM- 20220308
LR  - 20220531
IS  - 2233-6087 (Electronic)
IS  - 2233-6079 (Print)
IS  - 2233-6079 (Linking)
VI  - 45
IP  - 6
DP  - 2021 Nov
TI  - The rs2304256 Polymorphism in TYK2 Gene Is Associated with Protection for Type 1 
      Diabetes Mellitus.
PG  - 899-908
LID - 10.4093/dmj.2020.0194 [doi]
AB  - 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 beta-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.
FAU - Pellenz, Felipe Mateus
AU  - Pellenz FM
AD  - Endocrinology Division, Hospital de Clinicas de Porto Alegre, Porto Alegre, 
      Brazil.
AD  - Department of Internal Medicine, Graduate Program in Medical Sciences: 
      Endocrinology, Federal University of Rio Grande do Sul, Faculty of Medicine, 
      Porto Alegre, Brazil.
FAU - Dieter, Cristine
AU  - Dieter C
AD  - Endocrinology Division, Hospital de Clinicas de Porto Alegre, Porto Alegre, 
      Brazil.
AD  - Department of Internal Medicine, Graduate Program in Medical Sciences: 
      Endocrinology, Federal University of Rio Grande do Sul, Faculty of Medicine, 
      Porto Alegre, Brazil.
FAU - Duarte, Guilherme Coutinho Kullmann
AU  - Duarte GCK
AD  - Endocrinology Division, Hospital de Clinicas de Porto Alegre, Porto Alegre, 
      Brazil.
AD  - Department of Internal Medicine, Graduate Program in Medical Sciences: 
      Endocrinology, Federal University of Rio Grande do Sul, Faculty of Medicine, 
      Porto Alegre, Brazil.
FAU - Canani, Luis Henrique
AU  - Canani LH
AD  - Endocrinology Division, Hospital de Clinicas de Porto Alegre, Porto Alegre, 
      Brazil.
AD  - Department of Internal Medicine, Graduate Program in Medical Sciences: 
      Endocrinology, Federal University of Rio Grande do Sul, Faculty of Medicine, 
      Porto Alegre, Brazil.
FAU - de Souza, Bianca Marmontel
AU  - de Souza BM
AD  - Endocrinology Division, Hospital de Clinicas de Porto Alegre, Porto Alegre, 
      Brazil.
AD  - Department of Internal Medicine, Graduate Program in Medical Sciences: 
      Endocrinology, Federal University of Rio Grande do Sul, Faculty of Medicine, 
      Porto Alegre, Brazil.
FAU - Crispim, Daisy
AU  - Crispim D
AD  - Endocrinology Division, Hospital de Clinicas de Porto Alegre, Porto Alegre, 
      Brazil.
AD  - Department of Internal Medicine, Graduate Program in Medical Sciences: 
      Endocrinology, Federal University of Rio Grande do Sul, Faculty of Medicine, 
      Porto Alegre, Brazil.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20210524
PL  - Korea (South)
TA  - Diabetes Metab J
JT  - Diabetes & metabolism journal
JID - 101556588
RN  - EC 2.7.10.2 (TYK2 Kinase)
RN  - EC 2.7.10.2 (TYK2 protein, human)
SB  - IM
MH  - Brazil
MH  - Case-Control Studies
MH  - *Diabetes Mellitus, Type 1/genetics
MH  - Gene Frequency
MH  - Genetic Predisposition to Disease
MH  - Humans
MH  - Polymorphism, Single Nucleotide/genetics
MH  - TYK2 Kinase/genetics
PMC - PMC8640150
OTO - NOTNLM
OT  - Autoimmune diseases
OT  - Diabetes mellitus, type 1
OT  - Polymorphism, genetic
OT  - Polymorphism, single nucleotide
OT  - TYK2 kinase
COIS- CONFLICTS OF INTEREST No potential conflict of interest relevant to this article 
      was reported.
EDAT- 2021/07/07 06:00
MHDA- 2022/03/09 06:00
PMCR- 2021/11/01
CRDT- 2021/07/06 03:46
PHST- 2020/08/06 00:00 [received]
PHST- 2020/12/04 00:00 [accepted]
PHST- 2021/07/07 06:00 [pubmed]
PHST- 2022/03/09 06:00 [medline]
PHST- 2021/07/06 03:46 [entrez]
PHST- 2021/11/01 00:00 [pmc-release]
AID - dmj.2020.0194 [pii]
AID - dmj-2020-0194 [pii]
AID - 10.4093/dmj.2020.0194 [doi]
PST - ppublish
SO  - Diabetes Metab J. 2021 Nov;45(6):899-908. doi: 10.4093/dmj.2020.0194. Epub 2021 
      May 24.