Kolahdouz Parisa, Farashahi Yazd Ehsan, Tajamolian Masoud, Manaviat Masoud Reza, Sheikhha Mohammad Hasan
Department of Genetics, Faculty of Medicine, Shahid Sadoughi University of Medical Sciences Campus, Shohadaye Gomnam Blvd., 8915173143, Yazd, Iran.
Yazd Clinical & Research Center for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Graefes Arch Clin Exp Ophthalmol. 2015 Nov;253(11):1967-72. doi: 10.1007/s00417-015-3141-9. Epub 2015 Sep 7.
This study aims at investigating possible associations of P-selectin polymorphisms with proliferative diabetic retinopathy (PDR) in Yazd, Iran.
The subjects of the study included of 55 PDR and 55 diabetic no retinopathy (DNR) cases attending Yazd Diabetes Research Center (YDRC). P-selectin genotyping was done by an ARMS-PCR method.
The P-selectin variants rs6128, rs6133, and rs3917779 were not in Hardy-Weinberg equilibrium. The frequency of the rs3917779 C allele (P < 0.0001), but not the rs6133 G allele (P = 0.19) or rs6128 allele (P = 0.20), was higher in PDR cases than in control DNR cases. Significant differences in the distribution of rs3917779 (P < 0.001), but not rs6128 (P = 0.52) or rs6133 (P = 0.18), genotypes were observed between cases and controls, and only rs3917779 showed a significant association with PDR, with increments of 49.2 (14.72-125.07) in disease risk seen for CC genotypes. Among the eight three-locus P-selectin haplotypes constructed (rs6128 / rs6133 / rs3917779), there was no significant difference between frequencies of haplotypes in the DNR and PDR groups.
P-selectin gene polymorphisms and haplotypes can contribute to PDR development.
本研究旨在调查伊朗亚兹德地区P-选择素基因多态性与增殖性糖尿病视网膜病变（PDR）之间可能存在的关联。
本研究的对象包括55例PDR患者和55例无糖尿病视网膜病变（DNR）的糖尿病患者，他们均来自亚兹德糖尿病研究中心（YDRC）。采用扩增阻滞突变系统聚合酶链反应（ARMS-PCR）方法进行P-选择素基因分型。
P-选择素基因变异rs6128、rs6133和rs3917779不符合哈迪-温伯格平衡。PDR患者中rs3917779 C等位基因的频率（P < 0.0001）高于对照DNR患者，而rs6133 G等位基因（P = 0.19）和rs6128等位基因（P = 0.20）的频率在两组间无显著差异。病例组和对照组之间，rs3917779基因型的分布存在显著差异（P < 0.001），而rs6128（P = 0.52）和rs6133（P = 0.18）基因型的分布无显著差异。只有rs3917779与PDR显著相关，CC基因型的疾病风险增加了49.2（14.72 - 125.07）。在所构建的8种三位点P-选择素单倍型（rs6128 / rs6133 / rs3917779）中，DNR组和PDR组单倍型频率无显著差异。
P-选择素基因多态性和单倍型可能与PDR的发生发展有关。
