TYK2 基因 rs2304256 多态性与 1 型糖尿病的保护有关。
The rs2304256 Polymorphism in TYK2 Gene Is Associated with Protection for Type 1 Diabetes Mellitus.
机构信息
Endocrinology Division, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Department of Internal Medicine, Graduate Program in Medical Sciences: Endocrinology, Federal University of Rio Grande do Sul, Faculty of Medicine, Porto Alegre, Brazil.
出版信息
Diabetes Metab J. 2021 Nov;45(6):899-908. doi: 10.4093/dmj.2020.0194. Epub 2021 May 24.
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.
背景
酪氨酸激酶 2（TYK2）是 1 型糖尿病（T1DM）的候选基因，因为它通过调节 I 型干扰素信号通路，在调节胰腺β细胞凋亡和促炎途径方面发挥重要作用。TYK2 基因中的 rs2304256 单核苷酸多态性（SNP）与多种自身免疫性疾病的保护有关。然而，迄今为止，只有两项研究评估了该 SNP 与 T1DM 之间的关联，结果存在差异。因此，本研究旨在调查南里奥格兰德州巴西人群中 TYK2 rs2304256 SNP 与 T1DM 之间的关联。
方法
本病例对照研究包括 478 例 T1DM 患者和 518 例非糖尿病对照。采用 TaqMan 小沟结合物（MGB）探针实时聚合酶链反应技术检测 rs2304256（C/A）SNP 基因型。
结果
rs2304256 SNP 的基因型和等位基因频率在 T1DM 患者和非糖尿病对照之间存在差异（P<0.0001 和 P=0.001）。此外，在调整人类白细胞抗原（HLA）DR/DQ 基因型、性别和种族后，隐性（比值比[OR]，0.482；95%置信区间[CI]，0.288 至 0.806）和加性（OR，0.470；95%CI，0.278 至 0.794）遗传模型中，A 等位基因与 T1DM 发病风险降低相关。
结论
在南里奥格兰德州巴西人群中，TYK2 rs2304256 SNP 的 A/A 基因型与 T1DM 发病风险降低相关。
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