PLA2G12A基因多态性与中国北方汉族儿童孤独症谱系障碍的关联性分析

doi:10.13481/j.1671-587x.20160616

吉林大学学报(医学版) ›› 2016, Vol. 42 ›› Issue (06): 1132-1137.doi: 10.13481/j.1671-587x.20160616

PLA2G12A基因多态性与中国北方汉族儿童孤独症谱系障碍的关联性分析

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

1. 吉林大学第一医院二部儿科, 吉林长春 130012;
2. 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;
3. 吉林大学第一医院儿科, 吉林长春 130021;
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:2016-11-28 发布日期:2016-12-02
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) E-mail:hyjiang2016@163.com
作者简介:雷洁(1982-),女,陕西省渭南市人,主治医师,医学硕士,主要从事小儿呼吸系统疾病方面的研究。
基金资助:
国家科技部国际科技合作专项基金资助课题（2015DFA31580）；中国博士后基金会第53批中国博士后科学基金项目资助课题（2013M530989）；吉林省科技厅重点实验室专项项目资助课题（20140622001JC，20160622020JC）

Analysis on association between PLA2G12A polymorphisms and autism spectrum disorder of Han nationality children in North China

LEI Jie¹, QIU Shuang², LIU Shicheng³, PENG Bo¹, LI Ri², BAI Ye², LIU Yawen², YU Yaqin², ZHU Xiaojuan⁴, JIANG Huiyi¹

1. Department of Pediatrics, First Hospital, Jilin University, Changchun 130012, China;
2. Department of Epidemiology and Health Biostatistics, School of Public Health, Jilin University, Changchun 130021, China;
3. Department of Pediatrics, First Hospital, Jilin University, Changchun 130021, China;
4. Institute of Cytology and Genetics, School of Life Sciences, Northeast Normal University, Changchun 130024, China

Received:2016-05-05 Online:2016-11-28 Published:2016-12-02

摘要/Abstract

摘要：

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Hardy-Weioberg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Haploview4.2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。

关键词: PLA2G12A基因, 单核苷酸多态性, 孤独症谱系障碍, 病例对照

Abstract:

Objective: To investigate the association between PLA2G12A polymorphism and autism spectrum disorder (ASD) in North Han Chinesechildren,and to explore whether PLA2G12A is a susceptibility gene for ASD.Methods: A total of 85 ASD children (case group) and 183 healthy children(control group) were enrolled in our case-control study.Four SNPs (rs6533451,rs2285714,rs2285713,and rs11728699) on PLA2G12A gene were selected and the genotype and allele were tested using Sequenom Mass ARRAY System.The SNPStats program was used for analyzing the Hardy-Weinberg equilibrium test;the differences in genotypic and allelic frequencies of the subjects between two groups were detected; the association between ASD and 4 SNPs was analyzed by genetic models; the Haploview 4.2 software was used to analyze the association between ASD and haplotypes.Results: The distribution of genotypes and alleles of all SNPs sites did not deviate from Hardy-Weinberg equilibrium in both case and control groups (P>0.05). There were no significant differences of the genotypic and allelic frequencies of four SNPs sites of the subjects between case and control groups (P>0.05). There were no significant association between ASD and the gene polymorphisms of four SNPs sites under five genetic models (P>0.05).The haplotypes composed by rs251684,rs2307279,and rs156631 sites were not significantly associated with ASD (P>0.05).Conclusion: PLA2G12A may not be a candidate gene for ASD in North Han Chinese children.

Key words: PLA2G12A gene, autism spectrum disorder, case, single nucleotide polymorphism, control

中图分类号:

R729

雷洁, 邱爽, 刘仕成, 彭博, 李日, 白烨, 刘雅文, 于雅琴, 朱筱娟, 姜慧轶. PLA2G12A基因多态性与中国北方汉族儿童孤独症谱系障碍的关联性分析[J]. 吉林大学学报(医学版), 2016, 42(06): 1132-1137.

LEI Jie, QIU Shuang, LIU Shicheng, PENG Bo, LI Ri, BAI Ye, LIU Yawen, YU Yaqin, ZHU Xiaojuan, JIANG Huiyi. Analysis on association between PLA2G12A polymorphisms and autism spectrum disorder of Han nationality children in North China[J]. Journal of Jilin University Medicine Edition, 2016, 42(06): 1132-1137.

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PLA2G12A基因多态性与中国北方汉族儿童孤独症谱系障碍的关联性分析

Analysis on association between PLA2G12A polymorphisms and autism spectrum disorder of Han nationality children in North China

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