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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HardyWeioberg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 SNPs and Autism Spectrum Disorder (ASD) in Han children in northern China and to explore whether PLA2G12A is a susceptible gene to ASD. Methods: Four SNPs loci (rs6533451, rs2285714, rs2285713 and rs11728699) of PLA2G12A gene in 85 children with ASD (case group) and 183 healthy children (control group) were enrolled in this study by Sequenom Mass ARRAY system. Alleles. The online SNPStats program was used to analyze the HardyWei-obg test to analyze the differences of genotype and allele frequency distribution between the two groups. Genetic polymorphism was analyzed by genetic model for association with ASD. Haploview 4.2 software analysis of each haplotype association with ASD. Results: The genotype and allele distribution of PLA2G12A gene in the two groups were all in accordance with the Hardy-Weinberg equilibrium test (P> 0.05). There were no significant differences in genotype and allele frequency distribution between PLA2G12A gene and allele in case group and control group (P> 0.05). No association was found between ASL and polymorphism at all loci (P> 0.05). The haplotypes of three loci (rs6533451, rs2285714 and rs11728699) were not associated with ASD (P> 0.05). Conclusion: PLA2G12A may not be a susceptibility gene to ASD in Han children in northern China.