ELOVL4基因M299V多态性与我国人群渗出性年龄相关性黄斑变性的关联性研究  

Association of M299V variant inELOVL4 gene with exudative age-related macular degeneration in a Chinese population

作　　者：顾虹[1] 崔蕾[1] 刘宁朴[1] 

机构地区：[1]首都医科大学附属北京同仁医院北京同仁眼科中心北京市眼科学与视觉科学重点实验室,100730

出　　处：《中华眼科杂志》2010年第2期125-128,共4页Chinese Journal of Ophthalmology

基　　金：国家重点基础研究发展（973）计划资助项目（2007CB512201）

摘　　要：目的研究极长链脂肪酸延长因子4（ELOVL4）M299V多态性改变与我国人群渗出性年龄相关性黄斑变性（AMD）的相关性。方法病例对照研究。收集渗出性AMD患者145例和正常对照人群117例，取其外周血提取基因组DNA，应用聚合酶链反应（PCR）法结合限制性内切酶的酶切分析法及DNA序列测定法对ELOVL4基因单核苷酸多态（SNP）位点rs3812153：A〉G（M299V）进行检测。渗出性AMD患者组与对照组的年龄比较采用Studentt检验，性别比例、基因型和等位基因出现频率比较采用x。检验，比值比和95％可信区间根据woolf等式计算，应用Haploview4．0软件检验基因型分布是否符合Hardy-Weinberg平衡定律。结果145例渗出性AMD患者中，男性85例（58．6％），女性60例（41．4％）；年龄50～89岁，平均（66．5±8．5）岁。117例正常对照人群中，男性61例（52．1％），女性56例（47．9％）；年龄50～80岁，平均（66．5±7．4）岁。两组间年龄（t=-0．009，P=0．99）和性别（X^2=1．103，P=0．29）差异无统计学意义。ELOVL4基因M299V基因型分布符合Hardy-Weinbery平衡定律，M299V基因多态性与渗出性AMD无相关性（X^2=0．960，P=0．619）。变异型等位基因G出现频率：渗出性AMD组为17．2％（50／290），对照组为19．7％（46／234），两组间差异无统计学意义（X^2=0．505，P=0．477）。与野生AA基因型相比较，拥有纯合子GG与杂合子AG的AMD患者发病比值比分别为0．56（95％CI：0．17～1．82）和0．98（95％CI：0．56～1．69）。结论ELOVL4基因M299V多态性与我国人群渗出性AMD的发病无明显相关性。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 X^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 （ X^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 （ X^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 ELOVIA gene and exudative AMD in the Chinese population.

关 键 词：黄斑变性 眼蛋白质类 膜蛋白质类 多态性 单核苷酸 

分 类 号：R774.5[医药卫生—眼科]