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

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.