Plexin domain containing 2 (PLXDC2) gene polymorphism rs7081455 may not influence POAG risk in a Saudi cohort.
Plexin domain containing 2 (PLXDC2) gene polymorphism rs7081455 may not influence POAG risk in a Saudi cohort.
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DOI：
10.1186/s13104-018-3848-x
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发表时间：
2018-10-16
影响因子：
1.8
通讯作者：
Al-Obeidan SA
中科院分区：
文献类型：
--
作者：
Kondkar AA;Sultan T;Almobarak FA;Kalantan H;Abu-Amero KK;Al-Obeidan SA
PLXDC2是一种细胞表面色素上皮衍生因子的跨膜蛋白受体，在包括眼睛在内的许多组织中都有表达。PLXDC2基因rs7081455多态性与原发性开角型青光眼及其临床表型相关，可能在开角型青光眼发病中起一定作用。使用Taq-MAN®对沙特POAG患者(n = 188)和非青光眼对照组(n = 164)的RS7081455进行了基因分型，以确定该变异与POAG及其内表型的任何关联。对照组和POAG组的风险变异‘G’等位基因频率分别为0.56%和0.52%(p = 0.197)，与Hardy-Weinberg平衡无显著差异。病例组和对照组之间的基因分型在加性模型(p = 0.482)、显性模型(p = 0.590)和隐性模型(p = 0.228)下没有显著的分布。此外，青光眼的特殊表型特征，如眼压(IOP)和杯盘比；以及用于评估疾病严重程度的抗青光眼药物的数量，在统计上也没有显著意义。此外，回归分析表明，年龄、性别和基因对疾病结局没有显著影响。Rs7081455与POAG及其临床表型(如眼压和杯盘比)无关，因此可能不是沙特血统的POAG患者的重要危险因素。本文的在线版本(10.1186/s13104.0183848x)包含补充材料，授权用户可以使用。
Plexin domain containing 2 (PLXDC2), a cell surface transmembrane protein receptor for pigment epithelium derived factor, is expressed in many tissues including the eye. Polymorphism rs7081455 flanking PLXDC2 has been associated with primary open angle glaucoma (POAG) and its clinical phenotypes and may have a role in POAG. Rs7081455 was genotyped in POAG cases (n = 188) and non-glaucomatous controls (n = 164) of Saudi origin using Taq-Man® to determine any association of this variant with POAG and its endophenotypes. The risk variant, ‘G’ allele, frequency was 0.56 and 0.52 in controls and POAG cases, respectively (p = 0.197) with was no significant deviation from Hardy–Weinberg equilibrium. Genotype analysis between cases and controls revealed no significant distribution under additive (p = 0.482), dominant (p = 0.590) and recessive models (p = 0.228). In addition, glaucoma specific phenotypic traits such as intraocular pressure (IOP) and cup/disc ratio; and number of anti-glaucoma medications, used to assess severity of the disease, were also statistically non-significant. Furthermore, regression analysis showed no significant effect of age, sex and genotype on disease outcome. Rs7081455 was not associated with POAG or its clinical phenotypes such as IOP and cup/disc ratio and hence may not be a significant risk factor for POAG patients of Saudi origin. The online version of this article (10.1186/s13104-018-3848-x) contains supplementary material, which is available to authorized users.