补体因子I基因单核苷酸多态性与年龄相关性黄斑变性的关联

[Association of single nucleotide polymorphism in complement factor I gene with age-related macular degeneration].

作者信息

Wu Pei-bei, Gu Hong, Yang Xiu-fen, Liu Ning-pu

机构信息

Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China.

出版信息

Zhonghua Yan Ke Za Zhi. 2013 Apr;49(4):350-6.

PMID:23900096

Abstract

OBJECTIVE

To investigate the association of three single nucleotide polymorphism (SNP) in the upstream of the complement factor I (CFI) gene with age-related macular degeneration (AMD) in a Chinese population.

METHODS

Case-control study. Patients with early or late stages of AMD and healthy control subjects were recruited. Genomic DNA was extracted from the peripheral venous blood. Genotyping for SNP rs10033900: T > C, rs13117504: C > G and rs2285714: C > T in the upstream of the CFI gene was determined by using a method of polymerase chain reaction (PCR) followed by restriction enzyme digestion and direct sequencing. Statistical analysis was performed using the R statistical analysis package.

RESULTS

A total of three hundreds and seventy nine participants were enrolled in the study, including 119 patients with exudative AMD, 120 patients with early AMD and 140 control individuals without AMD. Frequency of the minor allele C of rs10033900 in exudative AMD, early AMD and control groups were 17.4% (40/230), 22.5% (54/240) and 29.3% (82/280), respectively. Significant association of rs10033900 was detected with exudative AMD (χ(2) = 9.82, P = 0.002, OR = 0.57, 95%CI: 0.36 - 0.88), but not with early AMD (χ(2) = 3.08, P = 0.079). Frequency of the minor allele G of rs13117504 in exudative AMD, early AMD and control groups were 38.6% (91/236), 54.2% (130/240) and 51.8% (145/280), respectively. Significant association of rs13117504 was detected with exudative AMD (χ(2) = 9.03, P = 0.003, OR = 0.56, 95%CI: 0.39 - 0.82), but not with early AMD (χ(2) = 0.29, P = 0.59). No association was detected between rs2285714 and exudative AMD (χ(2) = 0.72, P = 0.31) or between rs2285714 and early AMD (χ(2) = 2.30, P = 0.13).

CONCLUSION

The minor allele of rs10033900 and rs13117504 in the CFI gene may have a protective role against the risk of exudative AMD.

摘要

目的

研究补体因子I（CFI）基因上游三个单核苷酸多态性（SNP）与中国人群年龄相关性黄斑变性（AMD）的关联。

方法

病例对照研究。招募早发型或迟发型AMD患者及健康对照者。从外周静脉血中提取基因组DNA。采用聚合酶链反应（PCR）后限制性内切酶消化及直接测序的方法，对CFI基因上游的SNP rs10033900：T＞C、rs13117504：C＞G和rs2285714：C＞T进行基因分型。使用R统计分析软件包进行统计分析。

结果

本研究共纳入379名参与者，包括119例渗出性AMD患者、120例早发型AMD患者和140名无AMD的对照个体。rs10033900次要等位基因C在渗出性AMD组、早发型AMD组和对照组中的频率分别为17.4%（40/230）、22.5%（54/240）和29.3%（82/280）。rs10033900与渗出性AMD存在显著关联（χ² = 9.82，P = 0.002，OR = 0.57，95%CI：0.36 - 0.88），但与早发型AMD无关联（χ² = 3.08，P = 0.079）。rs13117504次要等位基因G在渗出性AMD组、早发型AMD组和对照组中的频率分别为38.6%（91/236）、54.2%（130/240）和51.8%（145/280）。rs13117504与渗出性AMD存在显著关联（χ² = 9.03，P = 0.003，OR = 0.56，95%CI：0.39 - 0.82），但与早发型AMD无关联（χ² = 0.29，P = 0.59）。未检测到rs2285714与渗出性AMD之间（χ² = 0.72，P = 0.31）或rs2285714与早发型AMD之间（χ² = 2.30，P = 0.13）存在关联。