CFH Y402H多态性与新生血管性年龄相关性黄斑变性的相关性

山东大学学报(医学版)

CFH Y402H多态性与新生血管性年龄相关性黄斑变性的相关性

季翔¹，曲毅²

1．青岛大学医学院，山东青岛 266021; 2.山东大学齐鲁医院眼科，济南 250012

收稿日期:2008-04-28 修回日期:1900-01-01 出版日期:2008-09-16 发布日期:2008-09-16
通讯作者: 曲毅

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

JI Xiang¹, QU Yi²

1. Medical College of Qingdao University, Qingdao 266021, Shandong, China;2. Department of Ophthalmology, Qilu Hospital of Shandong University, Jinan 250012, China

Received:2008-04-28 Revised:1900-01-01 Online:2008-09-16 Published:2008-09-16
Contact: QU Yi

摘要/Abstract

摘要： 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。

关键词: 年龄相关性黄斑变性, 多态现象(遗传学), 补体因子H

Abstract: To investigate the association between Y402H, in the complement factor H gene (CFH) and neovascular agerelated macular degeneration (AMD). Methods100 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 χ² test and logistic regression. ResultsThe frequency of the risk allele 1277C was 14.0% in AMD patients compared with 5.0% in the controls (χ²=9.42，P<0.05)， mutational homozygote 1277CC in AMD cases was higher than that in the controls（χ²=9.08，P＜0.05）, and the difference between the two groups was statistically significant. ConclusionThe Y402H polymorphism in CFH is significantly associated with neovascular AMD and has an ethnic variation.

Key words: Complement factor H, Polymorphism(Genetics), Agerelated macular degeneration

中图分类号:

R774

季翔,曲毅 . CFH Y402H多态性与新生血管性年龄相关性黄斑变性的相关性[J]. 山东大学学报(医学版), 2008, 46(9): 877-879.

JI Xiang,QU Yi. Association of the Y402H polymorphism in the complement factor H gene and neovascular age-related macular degeneration[J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2008, 46(9): 877-879.

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