重庆西南地区土家族年龄相关性黄斑变性与血管内皮生长因子基因多态性的相关性分析

Association of polymorphism of VEGF gene and age-related macular degeneration in the Tujia population from Southwest Chongqing of China

目的研究血管内皮生长因子(VEGF)的基因多态性改变与年龄相关性黄斑变性(AMD)在西南地区土家族人群中的相关性。设计病例对照研究。研究对象重庆西南地区50岁以上的土家族人群。方法采用整群随机抽样及病例对照关联的方法,在重庆西南地区对50岁以上的土家族自然人群中进行筛查,选取AMD患者196例为AMD组,民族、年龄与之相匹配的健康者408例为对照组。抽取所有受检者外周血5～10 ml,提取DNA。选取VEGF基因上的4个单核苷酸多态性(SNP)位点,即rs3025039、rs2010963、rs833061、rs943080,通过Sequenom质谱仪MassARRAY实验平台提供的MALDI-TOF分析软件对这些位点进行基因分型和测序,采用SPSS 19.0统计学软件对结果进行分析,用卡方检验及非条件Logistic回归模型分析等位基因频率及基因型频率分布,计算比值比(OR)和95%可信区间(CI),同时对多重比较进行Bonferroni矫正。主要指标相关VEGF基因位点表达。结果 rs833061与rs2010963的等位基因频率及基因型频率在AMD组与对照组间比较差异有统计学意义(P=0.020、0.021、0.032),通过Bonferroni校正后,未发现任何位点基因型频率或等位基因频率在正常人和AMD患者中差异具有统计学意义。结论本研究的重庆西南地区土家族人群AMD的发生与VEGF基因的SNP位点rs3025039、rs2010963、rs833061和rs943080无相关性。(眼科,2019, 28:136-140)

Objective To investigate the associations between the single nucleotide polymorphisms (SNP) of VEGF gene and the risk of AMD in the Tujia population from Southwest Chongqing of China. Design Case control study. Participants Tujia people over the age of 50-year old in Southwestern Chongqing. Methods We used cluster random sampling and case-control correlation analysis in this study. We screened 50-year old Tujia native people in Southwestern Chongqing. 196 patients with AMD and 408 age-matched healthy persons were included. We extracted 5-10 ml peripheral blood from each of the participants for DNA extraction. Four SNP sites were selected from VEGF genes, namely rs3025039, rs2010963, rs833061and rs943080. Genetic typing and sequencing of these sites were performed by the MALDI-TOF analysis software provided by the Sequenom mass spectrometer MassARRAY experimental platform. SPSS statistical software was used to analyze the results. The allele frequencies and genotype frequencies were analyzed using the chi-square test and the non-conditional logistic regression model. The odd radios (OR) and 95% confidence interval (CI) were presented. The Bonferroni adjustment was applied when multiple comparisons was performed. P<0.05 was considered statistically significant. Main Outcome Measures Expression of related VEGF gene loci. Results There were significant differences(P<0.05) in allele frequencies and genotype frequencies of two SNPs sites(rs833061and rs2010963)between the AMD group and the control group. But the significance was disappeared after Bonferroni adjustment (P>0.05). Conclusion In the Tujia population from Southwest Chongqing of China, AMD had no association with the VEGF SNP rs3025039, rs2010963, rs833061and rs943080.