Al-Lahham Y, Mendes A K B, Souza E M, Alberton D, Rego F G M, Valdameri G, Picheth G
Programa de Pós-Graduação em Ciências Farmacêuticas, , , Brasil.
Departamento de Bioquímica e Biologia Molecular, , , Brasil.
Genet Mol Res. 2017 Sep 21;16(3):gmr-16-03-gmr.16039755. doi: 10.4238/gmr16039755.
Type 1 diabetes (T1D) is an autoimmune disease with a strong genetic component that has been associated with several genetic loci. Interleukin 18 (IL-18) is a potent proinflammatory cytokine, which is involved in the innate and adaptive immune responses, and in the pathogenesis of various diseases including T1D. Glucose transporter 4 (GLUT4) is known to be an insulin-responsive glucose transporter and has been associated with various diseases, including diabetes mellitus. We investigated the association of the polymorphisms rs187238 (IL-18) and rs5435 (GLUT4) in a case-control study in Euro-Brazilians with T1D (N = 136) and healthy subjects (N = 144). Real-time PCR with TaqMan fluorescent probes were applied for genotyping. All polymorphisms were in Hardy-Weinberg equilibrium. The minor allele frequencies for the G-allele (rs187238; IL-18) in healthy and T1D groups were 28.5% [95%CI = 23-34%] vs 31.6% [95%CI = 26-37%], P = 0.416, and for the T-allele (rs5435, GLUT4) were 33% [95%CI = 28-39] vs 27% [95%CI = 23-33%], P = 0.167, respectively. Genotype comparisons for both polymorphisms showed no significant differences (P > 0.05). The polymorphisms rs187238 and rs5435 were not associated with T1D in the studied population. The minor allele frequencies for both polymorphisms were similar to those of other Caucasian populations.
1型糖尿病(T1D)是一种具有强烈遗传成分的自身免疫性疾病,与多个基因位点相关。白细胞介素18(IL-18)是一种强效促炎细胞因子,参与先天性和适应性免疫反应以及包括T1D在内的各种疾病的发病机制。葡萄糖转运蛋白4(GLUT4)是一种已知的胰岛素反应性葡萄糖转运蛋白,与包括糖尿病在内的各种疾病相关。我们在一项病例对照研究中调查了欧洲裔巴西T1D患者(N = 136)和健康受试者(N = 144)中rs187238(IL-18)和rs5435(GLUT4)多态性的关联。使用TaqMan荧光探针进行实时PCR基因分型。所有多态性均处于哈迪-温伯格平衡。健康组和T1D组中G等位基因(rs187238;IL-18)的次要等位基因频率分别为28.5% [95%CI = 23 - 34%] 对31.6% [95%CI = 26 - 37%],P = 0.416,T等位基因(rs5435,GLUT4)的次要等位基因频率分别为33% [95%CI = 28 - 39] 对27% [95%CI = 23 - 33%],P = 0.167。两种多态性的基因型比较均无显著差异(P > 0.05)。在所研究的人群中,rs187238和rs5435多态性与T1D无关。两种多态性的次要等位基因频率与其他白种人群相似。