VAV2基因多态性与原发性开角型青光眼的相关性研究  

The correlation between VAV2 gene polymorphism and primary open-angle glaucoma

作　　者：王晶 黄璐琳[2] 林婴[2] 杨正林 WANG Jing;HUANG Lu-lin;LIN Ying;YANG Zheng-lin(Chengdu Institute of Biology,Chinese Academy of Sciences,University of Chinese Academy of Sciences,Graduate University of Chinese Academy of Science,Chengdu 610000,China;Sichuan Academy of Medical Sciences&Sichuan Provincial People's Hospital,Chengdu 610072,China;Sichuan Transformation Medical Research Hospital of Chinese Academy of Sciences,Chengdu 610000,China)

机构地区：[1]中国科学院大学成都生物研究所,中国科学院大学,中国科学院研究生院,四川成都610000 [2]四川省医学科学院·四川省人民医院,四川成都610072 [3]中国科学院四川转化研究医院,四川成都610000

出　　处：《实用医院临床杂志》2020年第3期1-4,共4页Practical Journal of Clinical Medicine

基　　金：国家自然科学基金资助项目(编号:81970839,81430008,81670895)。

摘　　要：目的探讨西南地区汉族人群原发性开角型青光眼(primary open-angle glaucoma,POAG)与VAV2基因单核苷酸多态性(single nucleotide polymorphism,SNP)位点rs7852459和rs2156323的关联性。方法采用病例-对照研究,选择中国西南地区的病例组1021例和对照组1012例,通过Sequenom MassARRAY方法基因分型VAV2基因关联位点,进一步Meta分析验证其与青光眼易感的关联性。结果VAV2基因的SNP位点rs7852459与POAG显著相关(P<0.05,OR=1.46),另一个SNP位点rs2156323与POAG无相关性(P=0.224,OR=0.93)。结论本次西南地区的病例对照样本中VAV2基因SNP位点rs7852459与POAG显著相关。提示该基因在POAG的发生发展的致病机制值得进一步探索。Objective To investigate the relationship between primary open-angle glaucoma(POAG)and single nucleotide polymorphism(SNP)sites rs7852459 and rs2156323 of VAV2 gene in Han population at China southwestern area.Methods A casecontrol study(1021 cases and 1012 controls from southwestern China)was selected in this study.The VAV2 association sites were genotyped by using the Sequenom MassARRAY method and further meta-analysis was used to verify the association with glaucoma susceptibility.Results rs7852459 of VAV2 gene was significantly related to POAG(P<0.05,OR=1.46),but no association was found between rs2156323 and POAG(P=0.2235,OR=0.93).Conclusion For the genotyping results,rs7852459 is significantly related to POAG.This suggests that the pathogenesis of VAV2 in POAG deserves a further exploration.

关 键 词：VAV2基因 原发性开角型青光眼 单核苷酸多态性 rs7852459 rs2156323 

分 类 号：R775[医药卫生—眼科]