Department of Human Genetics, Guru Nanak Dev University, Amritsar, Punjab, India.
Department of Biotechnology, Institute of Applied Sciences & Humanities, GLA University, Mathura, UP, India.
Mol Biol Rep. 2023 Dec;50(12):9769-9778. doi: 10.1007/s11033-023-08772-z. Epub 2023 Sep 12.
Diabetic Retinopathy (DR) is one of the major microvascular complications of diabetes. Being a complex disease, it is important to delineate the genetic and environmental factors that influence the susceptibility to DR in a population. Therefore, the present study was designed to investigate the role of genetic and lifestyle risk factors associated with DR susceptibility in a North-Indian population.
A total of 848 subjects were enrolled, comprising of DR cases (n = 414) and healthy controls (n = 434). The Sequenom MassARRAY technology was used to perform target genome analysis of 111 SNPs across 57 candidate genes and 14 intergenic region SNPs that are involved in the metabolic pathways associated with type 2 diabetes (T2D) and DR. Allele, genotype and haplotype frequencies were determined and compared among cases and controls. Logistic regression models were used to determine genotype-phenotype and phenotype-phenotype correlations.
The strongest association was observed with TCF7L2 rs12255372 T allele [p < 0.0001; odds ratio (OR) = 1.81 (1.44-2.27)] and rs11196205 C allele [p < 0.0008; OR = 1.62 (1.32-1.99)]. Genotype-phenotype and phenotype-phenotype correlations were found in the present study.
Our study provides strong evidence of association between the TCF7L2 variants and DR susceptibility.
糖尿病视网膜病变（DR）是糖尿病的主要微血管并发症之一。由于这是一种复杂的疾病，因此需要阐明影响人群中 DR 易感性的遗传和环境因素。因此，本研究旨在调查与 DR 易感性相关的遗传和生活方式风险因素在北印度人群中的作用。
共纳入 848 名受试者，包括 DR 病例（n=414）和健康对照（n=434）。采用Sequenom MassARRAY 技术对 57 个候选基因和 14 个与 2 型糖尿病（T2D）和 DR 相关代谢途径相关的基因间区域 SNPs 的 111 个 SNP 进行靶向基因组分析。确定并比较病例和对照组中的等位基因、基因型和单倍型频率。使用逻辑回归模型确定基因型-表型和表型-表型相关性。
与 TCF7L2 rs12255372 T 等位基因（p<0.0001；优势比[OR] = 1.81（1.44-2.27））和 rs11196205 C 等位基因（p<0.0008；OR = 1.62（1.32-1.99））观察到最强的关联。本研究发现了基因型-表型和表型-表型相关性。
本研究提供了 TCF7L2 变异与 DR 易感性之间存在关联的有力证据。
