Association of erythropoietin gene polymorphism (rs1617640 C>T/G) with diabetic retinopathy in Type 2 diabetes mellitus patients of Punjabi population in Pakistan

	Association of erythropoietin gene polymorphism (rs1617640 C>T/G) with diabetic retinopathy in Type 2 diabetes mellitus patients of Punjabi population in Pakistan
	Disoma, C; Malik, A; Nisar, A; Ullah, I; Hayat, S; Qadeer, A; Mehmood, SA; Khan, S; Xia, ZX
	2025
发表期刊	PLoS One
卷号	20 期号:11
摘要	Diabetic retinopathy (DR) is a leading cause of vision loss in individuals with type 2 diabetes mellitus (T2DM) and is influenced by genetic factors. We investigated the association between the erythropoietin (EPO) gene polymorphism (rs1617640 C > T/G) and DR risk in a Punjabi Pakistani cohort of adults with T2DM. In a case-control design, 573 T2DM patients (294 with DR, 279 controls without retinopathy, CDR) were genotyped by ARMS-PCR. The protective CC genotype was significantly more frequent in controls (96.77%) than in cases (30.61%) and was associated with markedly reduced DR risk (OR = 68; 95% CI 33.468-138.162; p < 0.001). Conversely, the GG and TT genotypes were absent in controls but present in DR patients (27.55% and 21.43%, respectively) and were strongly associated with increased DR risk (p < 0.001). Allele-level analysis mirrored genotype findings: the C allele predominated in controls (98.39%) but was significantly less frequent in cases (39%), while G and T alleles were enriched among DR patients (p < 0.001). Together, genotype- and allele-based results indicate that the rs1617640 C variant is protective against DR in this Punjabi T2DM population, whereas G and T variants increase DR susceptibility.
收录类别	SCIE
语种	英语
文献类型	期刊论文
条目标识符	http://ir.kiz.ac.cn/handle/152453/14743
专题	科研部门_衰老调控与功能研究（何永捍）
推荐引用方式 GB/T 7714	Disoma, C,Malik, A,Nisar, A,et al. Association of erythropoietin gene polymorphism (rs1617640 C>T/G) with diabetic retinopathy in Type 2 diabetes mellitus patients of Punjabi population in Pakistan[J]. PLoS One,2025,20(11).
APA	Disoma, C.,Malik, A.,Nisar, A.,Ullah, I.,Hayat, S.,...&Xia, ZX.(2025).Association of erythropoietin gene polymorphism (rs1617640 C>T/G) with diabetic retinopathy in Type 2 diabetes mellitus patients of Punjabi population in Pakistan.PLoS One,20(11).
MLA	Disoma, C,et al."Association of erythropoietin gene polymorphism (rs1617640 C>T/G) with diabetic retinopathy in Type 2 diabetes mellitus patients of Punjabi population in Pakistan".PLoS One 20.11(2025).

条目包含的文件
文件名称/大小	文献类型	版本类型	开放类型	使用许可
2026070106.pdf（2046KB）	期刊论文	出版稿	开放获取	CC BY-NC-SA	请求全文