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目的:研究PLA2G4C基因单核苷酸多态性(SNPs)与北方汉族儿童孤独症谱系障碍(ASD)的关联性,探讨PLA2G4C基因是否为北方汉族儿童ASD的易感基因。方法:共纳入85例ASD患儿和183名健康儿童,选取5个SNPs位点(rs9226、rs1045376、rs251684、rs2307279和rs156631),采用Sequenom Mass ARRAY系统进行基因型检测,通过在线SNPStats分析程序进行各位点Hardy-Weinberg(H-W)平衡定律检验,分析基因型及等位基因频数分布、各位点遗传模型与ASD的关联和单体型与ASD的关联。结果:病例组和对照组PLA2G4C基因5个位点基因型频数分布均符合H-W平衡定律(P>0.05);病例组和对照组基因型及等位基因频数分布差异无统计学意义(P>0.05);遗传模型分析,各位点SNPs与ASD无关联(P>0.05),rs251684、rs2307279和rs156631位点组成的各个单体型与ASD之间无关联(P>0.05)。结论:PLA2G4C可能不是北方汉族儿童ASD的易感基因。
Objective: To investigate the association between single nucleotide polymorphisms (PLA2G4C) of PLA2G4C gene and autism spectrum disorder (ASD) in Han children in northern China and to explore if PLA2G4C gene is susceptible gene of ASD in northern Han children. METHODS: A total of 85 children with ASD and 183 healthy children were enrolled in this study. Five SNPs (rs9226, rs1045376, rs251684, rs2307279 and rs156631) were selected and sequenced using the Sequenom Mass ARRAY system. The online SNPStats analysis program Hardy-Weinberg (HW) balance test was used to analyze the frequency distribution of genotypes and alleles, association of genetic models at each locus with ASD, and association of haplotype with ASD. Results: The frequency distribution of genotypes of PLA2G4C gene in case group and control group all accorded with the law of HW balance (P> 0.05). There was no significant difference in the distribution of genotype and allele frequencies between cases and controls (P> 0.05 (P> 0.05). There was no correlation between SNPs and ASD in rs251684, rs2307279 and rs156631 sites (P> 0.05). Conclusion: PLA2G4C may not be a susceptible gene to ASD in northern Han children.