PLA2G12A基因多态性与中国北方汉族儿童孤独症谱系障碍的关联性分析

摘要

目的：研究PLA2G12A基因单核苷酸多态性（SNPs）与中国北方汉族儿童孤独症谱系障碍（ASD）的关联性，探讨PLA2G12A基因是否是 ASD的易感基因。方法：采用 Sequenom Mass ARRAY系统对纳入的85例 ASD患儿（病例组）和183名健康儿童（对照组）PLA2G12A 基因上的4个 SNPs 位点（rs6533451、rs2285714、rs2285713和 rs11728699）进行基因型和等位基因检测；采用在线 SNPStats 分析程序行 Hardy-Weioberg检验，分析2组研究对象基因型和等位基因型频数分布的差异；采用遗传模型分析各位点的基因多态性与 ASD的关联性；采用 Haploview 4.2软件分析各个单体型与 ASD的关联性。结果：病例组和对照组研究对象PLA2G12A基因4个位点的基因型和等位基因型分布均符合 Hardy-Weinberg平衡检验（P＞0.05）。病例组和对照组PLA2G12A基因的4个位点基因型和等位基因频数分布差异无统计学意义（P＞0.05）；5个遗传模型下，各位点多态性与 ASD均无关联（P＞0.05）；3个位点（rs6533451、rs2285714和 rs11728699）组成的单体型与 ASD无关联（P＞0.05）。结论：PLA2G12A可能不是中国北方汉族儿童 ASD的易感基因。%Objective:To investigate the association between PLA2G12A polymorphism and autism spectrum disorder (ASD)in North Han Chinese children,and to explore whether PLA2G12A is a susceptibility gene for ASD.Methods:A total of 85 ASD children (case group)and 183 healthy children (control group)were enrolled in our case-control study.Four SNPs (rs6533451,rs2285714,rs2285713,and rs11728699)on PLA2G12A gene were selected and the genotype and allele were tested using Sequenom Mass ARRAY System. The SNPStats program was used for analyzing the Hardy-Weinberg equilibrium test;the differences in genotypic and allelic frequencies of the subj ects between two groups were detected;the association between ASD and 4 SNPs was analyzed by genetic models;the Haploview 4.2 software was used to analyze the association between ASD and haplotypes.Results:The distribution of genotypes and alleles of all SNPs sites did not deviate from Hardy-Weinberg equilibrium in both case and control groups (P>0.05).There were no significant differences of the genotypic and allelic frequencies of four SNPs sites of the subjects between case and control groups (P>0.05). There were no significant association between ASD and the gene polymorphisms of four SNPs sites under five genetic models (P>0.05).The haplotypes composed by rs251684,rs2307279,and rs156631 sites were not significantly associated with ASD (P>0.05).Conclusion:PLA2G12A may not be a candidate gene for ASD in North Han Chinese children.