Single-nucleotide polymorphisms in chromosome 3p14.1- 3p14.2 are associated with susceptibility of Type 2 diabetes with cataract

[摘要] Purpose: Type 2 diabetes (T2D) is highlyprevalent worldwide and cataracts are of high incidence in T2Dpatients. In this study, we identify genetic variants that predisposetype 2 diabetes (T2D) patients to cataracts in the Han-Chinese residingin Taiwan. Methods: We conducted a genome-wideassociation study with a total of 1,715 cases and 2,000 randomcontrols. In the haplotype study, we defined haplotype 1 (Ht 1) tohaplotype 4 (Ht 4) as the alternative alleles of the DM and cataractrelated chromosome 3p14.1- 3p14.2 polymorphisms. Results: The most significantassociation was detected with rs11129182,rs17047573,andrs17047586in chromosome 3p14.1- 3p14.2 (p value=3.52×10−7, 8.35×10−8,and7.65×10−8, respectively). In genotype analysis, the “CT”genotype of rs11129182,the‘GG’genotype of rs17047573,andthe‘GG’ genotype of rs17047586were significantly different in the T2D and cataract groups (OR=3.03,7.47, and 7.51, individually; 95% confidence index (CI): 1.97–4.65,3.36–16.6, and 3.38–16.7, individually). In the haplotype study, thedistribution of the Ht3 and Ht4 between the DM and cataract group andthe control group differed significantly between the two groups(p=0.0004). The odds ratio (OR) of Ht4 was 1.89 and the 95% confidenceinterval (CI) was 1.36–2.65. Conclusions: The major functions of thegenes are voltage-dependent anion-selective channel proteins, longmyosin light chain kinase, adenylyl cyclase-associated proteins andretinoic acid receptors and are all closely related with thepathogenesis of T2D and cataractogenesis. This has helped us understandthe pathogenesis of T2D patients with cataracts.

[学科分类] 生物化学/生物物理