Department of Human Genetics, Guru Nanak Dev University, Amritsar, Punjab, India.
Dr. Daljit Singh Eye Hospital, Amritsar, Punjab, India.
Can J Diabetes. 2021 Dec;45(8):785-791. doi: 10.1016/j.jcjd.2021.03.008. Epub 2021 Apr 2.
Our aim in this study was to determine the association of erythropoietin (EPO) gene polymorphisms with diabetic retinopathy in patients with type 2 diabetes from northern India.
In this case-control study, we recruited 614 participants, consisting of 302 diabetic retinopathy cases and 312 individuals with confirmed type 2 diabetes without retinopathy as controls. EPO polymorphism analysis was performed in all participants using polymerase chain reaction and direct DNA sequence analysis.
The genotype distribution and allele frequency of the c.246+265G>A (rs507392) polymorphism differed significantly (p<0.05) between the retinopathy and control groups. For the -1306C>A (rs1617640) polymorphism, genotype distribution among the 2 groups analyzed differed significantly (p=0.047), but the distribution of allele frequency was not found to be statistically significant (p=0.07). For the c.∗772G>T (rs551238) variant, genotype distribution did not differ significantly when comparing the 2 groups (p=0.062), but allele frequency distribution did differ significantly (p=0.045). For the polymorphisms analyzed, namely rs507392 and rs1617640, a statistically significant association with retinopathy was observed (dominant model: adjusted odds ratio [OR], 2.23; 95% confidence interval [CI], 1.36 to 3.35; p<0.01; codominant model: adjusted OR, 1.45; 95% CI, 1.00 to 2.09; p=0.048). However, no significant association between c.∗772G>T (rs551238) polymorphism and diabetic retinopathy was found.
Our findings show 2 polymorphisms (c.246+265G>A [rs507392] and -1306C>A [rs1617640]) in EPO to be risk factors for type 2 diabetic retinopathy in a northern Indian cohort. To our knowledge, this is the first report from India to demonstrate an association between EPO gene polymorphisms and retinopathy.
本研究旨在探讨印度北部 2 型糖尿病患者中促红细胞生成素（EPO）基因多态性与糖尿病视网膜病变的相关性。
本病例对照研究共纳入 614 名参与者，其中 302 名为糖尿病视网膜病变患者，312 名为无视网膜病变的 2 型糖尿病对照者。采用聚合酶链反应和直接 DNA 序列分析检测所有参与者的 EPO 多态性。
rs507392 （c.246+265G>A）和 rs1617640（-1306C>A）多态性的基因型分布和等位基因频率在视网膜病变组和对照组之间存在显著差异（p<0.05）。对于 rs1617640 多态性，两组间基因型分布差异有统计学意义（p=0.047），但等位基因频率分布无统计学意义（p=0.07）。rs551238（c.∗772G>T）多态性的基因型分布在两组间无显著差异（p=0.062），但等位基因频率分布有显著差异（p=0.045）。rs507392 和 rs1617640 与视网膜病变存在显著相关性（显性模型：调整后的比值比[OR]，2.23；95%置信区间[CI]，1.36 至 3.35；p<0.01；共显性模型：调整后的 OR，1.45；95%CI，1.00 至 2.09；p=0.048）。然而，rs551238（c.∗772G>T）多态性与糖尿病视网膜病变之间无显著相关性。
本研究结果显示，EPO 基因的 2 个多态性（c.246+265G>A [rs507392] 和 -1306C>A [rs1617640]）是印度北部 2 型糖尿病患者发生糖尿病视网膜病变的危险因素。据我们所知，这是印度首例报道 EPO 基因多态性与视网膜病变相关的研究。
