[ELOVL4基因M299V变异与中国人群渗出性年龄相关性黄斑变性的关联]

[Association of M299V variant in ELOVL4 gene with exudative age-related macular degeneration in a Chinese population].

作者信息

Gu Hong, Cui Lei, 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. 2010 Feb;46(2):125-8.

PMID:20388345

Abstract

OBJECTIVE

To investigate the association of M299V variant in the elongation of very long chain fatty acids-like 4 (ELOVL4) gene with exudative age-related macular degeneration (AMD) in a Chinese population.

METHODS

A total of 262 participants enrolled this study, including 145 patients with exudative AMD and 117 control individuals without AMD. Genomic DNA was extracted from peripheral blood. Genotyping for single nucleotide polymorphism (SNP) rs3812153: A > G (M299V) in ELOVL4 gene was performed using a method of polymerase chain reaction (PCR) followed by restriction enzyme digestion and direct sequencing. Numerical data were examined by Student t test. Genotypes and allele frequencies between AMD cases and the controls were compared by using the chi(2) test. Odd ratios (OR) and 95% confidence intervals (CI) were calculated according to the Woolf's equation. Compliance to Hardy-Weinberg equilibrium for distribution of genotypes was examined using Haploview version 4.0.

RESULTS

There was no significant difference in age or gender between AMD cases and the controls. Genotype distributions for M299V in AMD cases or the control subjects were in Hardy-Weinberg equilibrium. The M299V variant in ELOVL4 gene was not associated with exudative AMD in the population sample studied (chi(2) = 0.960, P = 0.619). Frequency of the rare allele G was 17.2% in cases with exudative AMD and 19.7% in the control individuals (chi(2) = 0.505, P = 0.477). Compared to the wild-type AA genotype, OR for risk of AMD was 0.99 (95%CI: 0.78 - 1.26) in heterozygous AG genotype and 0.56 (95%CI: 0.17 - 1.82) in homozygous GG genotype.

CONCLUSION

Our data suggested that there was no association between the M299V variant in ELOVL4 gene and exudative AMD in the Chinese population.

摘要

目的

研究超长链脂肪酸延伸蛋白样4（ELOVL4）基因M299V变异与中国人群渗出性年龄相关性黄斑变性（AMD）的关联。

方法

本研究共纳入262名参与者，其中145例渗出性AMD患者和117名无AMD的对照个体。从外周血中提取基因组DNA。采用聚合酶链反应（PCR）后限制性内切酶消化和直接测序的方法，对ELOVL4基因单核苷酸多态性（SNP）rs3812153：A>G（M299V）进行基因分型。数值数据采用Student t检验。采用卡方检验比较AMD病例组和对照组之间的基因型和等位基因频率。根据Woolf方程计算比值比（OR）和95%置信区间（CI）。使用Haploview 4.0版本检验基因型分布是否符合Hardy-Weinberg平衡。

结果

AMD病例组和对照组在年龄或性别上无显著差异。AMD病例组或对照受试者中M299V的基因型分布符合Hardy-Weinberg平衡。在所研究的人群样本中，ELOVL4基因的M299V变异与渗出性AMD无关（卡方=0.960，P=0.619）。渗出性AMD患者中罕见等位基因G的频率为17.2%，对照个体中为19.7%（卡方=0.505，P=0.477）。与野生型AA基因型相比，杂合子AG基因型患AMD风险的OR为0.99（95%CI：0.78 - 1.26），纯合子GG基因型为0.56（95%CI：0.17 - 1.82）。