Okumus Seydi, Demiryürek Seniz, Gürler Bülent, Coskun Erol, Bozgeyik Ibrahim, Oztuzcu Serdar, Kaydu Erdal, Celik Oguz, Erbagcı Ibrahim, Demiryürek Abdullah T
Department of Ophthalmology, Faculty of Medicine, University of Gaziantep, Gaziantep, Turkey.
Mol Vis. 2013 Aug 24;19:1852-8. eCollection 2013.
Genetic factors are shown to have a role in the development of primary open angle glaucoma (POAG). The aim of this study was to determine the effects of genetic polymorphisms of transient receptor potential melastatin (TRPM) channel genes on the risk of POAG in a Turkish population.
Genomic DNA was extracted from the leukocytes of the peripheral blood, and 26 single nucleotide polymorphisms in the TRPM channel genes were analyzed in 179 patients with POAG and in 182 healthy controls of similar age by using the BioMark HD dynamic array system.
There were marked changes in the genotype (TT, 26.8%; CT, 66.7%; CC, 6.5%) and allele (T, 60.1%; C, 39.9%) frequencies for the TRPM5 gene rs34551253 (Ala456Thr, in exon 9) polymorphism in patients when compared to the controls (TT, 11.3%; CT, 74.6%; CC, 14.1%, p = 0.0009; T, 48.6%; A, 51.4%, p = 0.0063). However, no associations with the other 25 polymorphisms studied were found.
This is the first study to examine the involvement of TRPM channel gene variations in the risk of incident POAG. This study demonstrated that the TRPM5 gene rs34551253 (Ala456Thr) polymorphism may be associated with increased risk of developing POAG in the Turkish population.
遗传因素在原发性开角型青光眼（POAG）的发病中显示出一定作用。本研究旨在确定瞬时受体电位香草酸亚家族（TRPM）通道基因的遗传多态性对土耳其人群中POAG发病风险的影响。
从外周血白细胞中提取基因组DNA，使用BioMark HD动态阵列系统对179例POAG患者和182例年龄相仿的健康对照者的TRPM通道基因中的26个单核苷酸多态性进行分析。
与对照组相比，患者中TRPM5基因rs34551253（外显子9中的Ala456Thr）多态性的基因型（TT，26.8%；CT，66.7%；CC，6.5%）和等位基因（T，60.1%；C，39.9%）频率有显著变化（TT，11.3%；CT，74.6%；CC，14.1%，p = 0.0009；T，48.6%；A，51.4%，p = 0.0063）。然而，未发现与其他25个研究的多态性有相关性。
这是第一项研究TRPM通道基因变异与POAG发病风险关系的研究。本研究表明，TRPM5基因rs34551253（Ala456Thr）多态性可能与土耳其人群中POAG发病风险增加有关。
