Zhou Tai-Cheng, Yang Lei, Liu Yong-Ying, Qin Yuan, Li Yi-Ping, Zhang Liang, Yang Ke, Yang Ying
1 Central Laboratory, Department of Endocrinology, Second People's Hospital of Yunnan Province , Kunming, China .
2 Nuclear Medicine Department, Second Affiliated Hospital of Kunming Medical University , Kunming, China .
Genet Test Mol Biomarkers. 2018 Nov;22(11):637-643. doi: 10.1089/gtmb.2018.0115. Epub 2018 Oct 25.
The uncoupling protein 2 (UCP2) gene plays an important role in the complications of type 2 diabetes (T2D). However, the association between variants in the UCP2 gene and diabetic retinopathy (DR) in Han Chinese T2D patients remains unclear.
Two single-nucleotide polymorphisms (SNPs) [rs659366 (-866G/A) and a 45-bp insertion/deletion (I/D) in the 3'-UTR] in the UCP2 gene were genotyped in a study cohort of 209 T2D patients with DR and 199 T2D patients without DR by direct DNA sequencing.
Logistic regression analysis showed that the AA and GA genotypes of rs659366 were significantly associated with an increased risk for nonproliferative DR (NPDR) in the codominant model (corrected p-value <0.01) and the dominant model (corrected p-value = 0.006). Patients harboring the II and DI genotypes had a higher risk for PDR in the codominant model (corrected p-value = 0.011) and the dominant model (corrected p-value = 0.006), and the DI genotype showed a higher risk for NPDR in the dominant model (corrected p-value = 0.007) or codominant model (corrected p-value = 0.006). Further, haplotype analyses verified that the A-I haplotype is a risk haplotype for NPDR and PDR.
This study suggests that the UCP2 gene may be involved in the pathogenesis of NPDR and PDR in Han Chinese patients with T2D.
解偶联蛋白2（UCP2）基因在2型糖尿病（T2D）并发症中起重要作用。然而，UCP2基因变异与中国汉族T2D患者糖尿病视网膜病变（DR）之间的关联仍不清楚。
通过直接DNA测序，对209例患有DR的T2D患者和199例无DR的T2D患者的研究队列进行UCP2基因的两个单核苷酸多态性（SNP）[rs659366（-866G/A）和3'-UTR中的45bp插入/缺失（I/D）]基因分型。
逻辑回归分析显示，rs659366的AA和GA基因型在共显性模型（校正p值<0.01）和显性模型（校正p值 = 0.006）中与非增殖性DR（NPDR）风险增加显著相关。携带II和DI基因型的患者在共显性模型（校正p值 = 0.011）和显性模型（校正p值 = 0.006）中发生增殖性DR（PDR）的风险更高，并且DI基因型在显性模型（校正p值 = 0.007）或共显性模型（校正p值 = 0.006）中显示出更高的NPDR风险。此外，单倍型分析证实A-I单倍型是NPDR和PDR的风险单倍型。
本研究表明，UCP2基因可能参与中国汉族T2D患者NPDR和PDR的发病机制。
