吉林大学学报(医学版) ›› 2017, Vol. 43 ›› Issue (01): 80-84.doi: 10.13481/j.1671-587x.20170116

• 临床研究 • 上一篇    下一篇

PLA2G4C基因多态性与北方汉族儿童孤独症谱系障碍的关联性分析

邱爽1, 刘仕成2, 彭博3, 雷洁3, 李日1, 白烨1, 于雅琴1, 朱筱娟4, 刘雅文1, 姜慧轶3   

  1. 1. 吉林大学公共卫生学院流行病与卫生统计学教研室, 吉林 长春 130021;
    2. 吉林大学第一医院儿科, 吉林 长春 130021;
    3. 吉林大学第一医院二部儿科, 吉林 长春 130031;
    4. 东北师范大学生命科学学院遗传与细胞研究所, 吉林 长春 130024
  • 收稿日期:2016-05-05 出版日期:2017-01-28 发布日期:2017-02-08
  • 通讯作者: 姜慧轶,副教授,硕士研究生导师(Tel:0431-84808136,E-mail:hyjiang2016@163.com);刘雅文,教授,博士研究生导师(Tel:0431-85619419,E-mail:ywliu@jlu.edu.cn) E-mail:hyjiang2016@163.com;ywliu@jlu.edu.cn
  • 作者简介:邱爽(1990-),女,吉林省桦甸市人,在读医学硕士,主要从事分子遗传流行病学方面的研究。
  • 基金资助:

    国家科技部国际科技合作专项资助课题(2015DFA31580);吉林省科技厅重点实验室专项基金资助课题(20140622001JC,20160622020JC);中国博士后科学基金会资助课题(2013M530989)

Analysis on association of PLA2G4C gene polymorphisms with autism spectrum disorder in North Han Chinese children

QIU Shuang1, LIU Shicheng2, PENG Bo3, LEI Jie3, LI Ri1, BAI Ye1, YU Yaqin1, ZHU Xiaojuan4, LIU Yawen1, JIANG Huiyi3   

  1. 1. Department of Epidemiology and Biostatistics, School of Public Health, Jilin University, Changchun 130021, China;
    2. Department of Pediatrics, First Hospital, Jilin University, Changchun 130021, China;
    3. Second Department of Pediatrics, First Hospital, Jilin University, Changchun 130031, China;
    4. Institute of Cytology and Genetics, Northeast Normal University, Changchun 130024, China
  • Received:2016-05-05 Online:2017-01-28 Published:2017-02-08

摘要:

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。

关键词: PLA2G4C基因, 病例对照研究, 孤独症谱系障碍, 单核苷酸多态性

Abstract:

Objective: To investigate the association of PLA2G4C (phospholipase A2,group IVC) gene polymorphisms with autism spectrum disorder (ASD) in the North Han Chinese children,and to explore whether PLA2G4C is a susceptibility gene for ASD in the North Han Chinese children.Methods: A total of 85 ASD children and 183 healthy controls were included in the study.Five single nucleotide polymorphisms (SNPs)sites (rs9226,rs1045376,rs251684,rs2307279,and rs156631) in PLA2G4C were selected and their genotypes were measured using Sequenom Mass ARRAY System.SNPStats program was adopted to analyze the Hardy-Weinberg (H-W) equilibrium test,the distribution of genotypic and allelic frequencies,the association of ASD with 5 SNPs under five genetic models,and the association of ASD with haplotypes.Results: The distribution of genotypic frequencies of 5 SNPs of PLA2G4C gene in case and control groups wasn't deviated with H-W equilibrium (P>0.05).There was no significant difference in the distribution of genotypic and allelic frequencies of 5 SNPs between case and control groups (P>0.05).No significant association was found between ASD and the 5 SNPs under five genetic models (P>0.05).The haplotypes composed by the three SNPs (rs251684,rs2307279,and rs156631) were not associated with ASD (P>0.05).Conclusion: PLA2G4C may not be a susceptibility gene for ASD in the North Han Chinese children.

Key words: single nucleotide polymorphism, autism spectrum disorder, case-control study, PLA2G4C gene

中图分类号: 

  • R749.94