Association study of gamma-aminobutyric acid type A receptor genes cluster with autism in Chinese Han population
10.3969/j.issn.1000-6729.2018.01.015
- VernacularTitle:中国汉族人群γ-氨基丁酸A类受体基因簇与孤独症的关联研究
- Author:
Zhiliu WU
1
;
Jun XIONG
;
Linyan WANG
;
Tianlan LU
;
Yanyan RUAN
;
Weihua YUE
;
Dai ZHANG
;
Lifang WANG
Author Information
1. 北京大学第六医院
- Keywords:
autism;
genetic association study;
GABAA receptors
- From:
Chinese Mental Health Journal
2018;32(1):83-88
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the genetic association of single nucleotide polymorphisms (SNPs) in gamma-aminobutyric acid type A (GABAA) receptor genes cluster on chromosome 15q12 with autism in Chinese Han population.Methods:Totally 502 autism trios of Chinese Han ethnicity (including 502 autism individuals and 1004 healthy biological parents) were selected.All children met the autism diagnosis of Diagnostic and Statistical Manual of Mental Disorders,Fourth edition (DSM-Ⅳ).Genotyping for 15 selected tag SNPs in three GABAA receptor genes (GABRB3,GABRA5,and GABRG3) was performed using Agena Bioscience MassARRAY platform.The family-based association test for 15 tag SNPs was performed to compare the transmitted frequency of al leles of heterozygous genotypes from parents to offspring in autism trios.Results:The C allele of rs7180500 in GABRG3 and the A allele of rs4906902 in GABRB3 exhibited the preferential transmission from parents to affected offspring (Z =3.573,P ＜0.001;Z =3.141,P =0.002),and the association was significant after Bonferroni correction.Conclusion:It suggests that GABRG3 and GABRB3 which located in chromosome 15q12 might be susceptibility genes in Chinese Han population.
