journal1 ›› 2017, Vol. 25 ›› Issue (12): 1196-1199.DOI: 10.11852/zgetbjzz2017-25-12-03

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

KANG Jing1, ZOU Ming-yang1, MA Yong-juan1, SONG Xiao-huan2, SUN Cai-hong1, HAO Yan-qiu3, XIA Wei1, WU Li-jie1   

  1. 1 Department of Child and Adolescent Health,Public Health College,Harbin Medical University,Harbin, Heilongjiang 150081,China;
    2 Department of Primary and Secondary Schools by Health Care of Nangang District, Harbin,Heilongjiang 150001,China;
    3 Department of Pediatric,the Second Affiliated Hospital, Harbin Medical University,Harbin,Heilongjiang 150086,China
  • Received:2017-04-04 Online:2017-12-10 Published:2017-12-10
  • Contact: WU Li-jie,


康晶1, 邹明扬1, 马永娟1, 宋小欢2, 孙彩虹1, 郝艳秋3, 夏薇1, 武丽杰1   

  1. 1 哈尔滨医科大学公共卫生学院儿少卫生与妇幼保健学教研室,黑龙江 哈尔滨 150081;
    2 哈尔滨市南岗区中小学生 卫生保健所,黑龙江 哈尔滨 150001;
    3 哈尔滨医科大学附属第二医院儿科,黑龙江 哈尔滨 150086
  • 通讯作者: 武丽杰,
  • 作者简介:康晶(1990-),女,黑龙江人,硕士在读,主要研究方向为儿童发育障碍及行为问题研究。
  • 基金资助:

Abstract: 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.

Key words: autism, FADS1, FADS2, polyunsaturated fatty acids, single nucleotide polymorphisms

摘要: 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。

关键词: 孤独症谱系障碍, FADS1基因, FADS2基因, 多不饱和脂肪酸, 单核苷酸多态性

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