CFH Y402H多态性与新生血管性年龄相关性黄斑变性的相关性

Association of the Y402H polymorphism in the complement factor H gene and neovascular age-related macular degeneration

目的探讨补体因子H(CFH)Y402H多态性与新生血管性年龄相关性黄斑变性(AMD)的相关性。方法选取山东大学齐鲁医院眼科新生血管性AMD患者100例及与其年龄匹配的健康人100例作为对照,收集外周血,提取基因组DNA,采用多聚酶链反应-限制性片段长度多态性分析(PCR-RFLP)技术,分析CFH Y402H多态性在两组的分布频率,Y402H多态性表现为CFH基因的外显子9的核苷酸1277碱基T突变为碱基C。采用χ2检验计算CFH多态性与AMD的相关性。结果风险等位基因1277C在两组的频率分别为14.0%和5.0%(χ2=9.42,P<0.05),病例组的突变纯合子显著增加,两组差异有统计学意义(χ2=9.08,P<0.05)。结论CFH Y402H多态性与新生血管性AMD相关,且表现出明显的人种差异。

Objective To investigate the association between Y402H, in the complement factor H gene （CFH） and neovascular age-related macular degeneration （AMD）. Methods 100 patients with neovascular AMD and 100 age-matched healthy controls in the clinic of Qilu Hospital were enrolled in this study. Genomic DNA from whole blood was extracted. The Y402H polymorphism in CFH Was determined by polymerase chain reaction-restriction fragment length polymorphism analysis （PCR-RFLP）. The Y402H polymorphism in CFH showed a substitution of T to C at nucleotide position 1277 in exon 9. The association between genetic polymorphism and disease was examined by χ^2 test and logistic regression. Results The frequency of the risk allele 1277C was 14.0% in AMD patients compared with 5.0% in the controls （χ^2= 9.42, P 〈 0.05）, mutational homozygote 1277CC in AMD cases was higher than that in the controls（ χ^2 = 9.08, P 〈 0.05）, and the difference between the two groups was statistically significant. Condusion The Y402H polymorphism in CFH is significantly associated with neovascular AMD and has an ethnic variation.