FADS1、FADS2基因多态性与中国汉族孤独症谱系障碍的关联研究

目的 分析参与多不饱和脂肪酸代谢的FADS1和FADS2基因单核苷酸多态性(SNPs)与中国汉族孤独症谱系障碍(ASD)患儿的相关性。方法 采用病例对照的研究方法,收集病例和对照各243例,采集外周血并提取DNA。利用人类基因库数据和Haploview 4.2软件筛选FADS1和FADS2基因的标签SNPs,采用Sequenom Mass ARRAY系统对SNPs进行基因分型,采用Logistic回归分析标签SNPs与ASD发病风险之间的关联。结果 病例组和对照组儿童FADS2基因的rs526126等位基因频率和基因型频率差异有统计学意义[G等位基因OR=0.54(0.41～0.72),G/G基因型OR=0.05(0.02～0.19),P均<0.001]。结论 FADS2基因可能与中国汉族儿童ASD发病风险存在关联性。

Analysis on association between FADS1,FADS2 genes polymorphisms and ASD of Han nationality children in China

Objective To analyze whether single nucleotide polymorphisms(SNPs) in FADS1 and FADS2 genes involved in polyunsaturated fatty acids metabolism are related to the risk of autism spectrum disorder (ASD) among Chinese population. Methods A total of 243 subjects with ASD and 243 control subjects were enrolled in this case-control study.Genomic DNA was extracted from peripheral whole blood samples.The human genome database and the Haploview 4.2 software were used to select tag SNPs.All tag SNPs genotyping were set by using the Sequenom Mass ARRAY.Associations between the tag SNPs and ASD were analyzed by logistic regression analysis. Results The allele and genotype frequencies at rs526126 in FADS2 showed significant differences between autistic children and control group[rs526126 G allele OR=0.54(0.41～0.72),P<0.001,G/G genotype OR=0.05(0.02～0.18),P<0.001]. Conclusion This study provides supportive evidence on association of the polymorphisms in FADS2 gene with ASD risk in Chinese Han nationality population.