中国心理卫生杂志2026，Vol.40Issue(5)：369-376,8.DOI:10.3969/j.issn.1000-6729.2026.05.01
中国汉族人群中Rho鸟嘌呤核苷酸交换因子家族基因与孤独症的关联研究
Association study of RhoGEFs genes with autism in Chinese Han population
摘要
Abstract
Objective:To explore the genetic associations between common variants of genes in the Rho gua-nine nucleotide exchange factors family and autism in the Han Chinese population.Methods:A total of 223 Chinese Han autism trio families were recruited,including 223 autism children and their 446 biological parents.26 tag single nucleotide polymorphisms of the RhoGEFs family genes DOCK1,DOCK4,DOCK8,ARHGEF10,and TRIO were gen-otyped using the Agena Bioscience mass spectrometry detection platform.Family-based association analysis and haplotype analysis were performed in the 223 Chinese Han trio families using the FBAT.Finally,online tools were used to further explore the potential functional significance of the positive SNPs.Results:In the additive model,al-lele C of rs9422853 on DOCK1,allele A of rs13252399 on ARHGEF10,as well as allele A of rs32593,allele T of rs33005,and allele G of rs27479 on TRIO,showed preferential transmission from parents to autistic offspring.After Bonferroni correction,the associations still showed statistical significance.Additionally,a haplotype constructed by rs32593 and rs33005 was significantly associated with autism.rs9422853,rs27479,rs32593,and rs33005 may be regulatory SNPs that affect the physiological functions of genes and the development of autism.Conclusion:In the Chinese Han population,rs9422853 of the DOCK1 gene,rs13252399 of the ARHGEF10 gene,and rs32593 and rs33005 of the TRIO gene in the RhoGEFs family may be susceptibility loci for autism.关键词
孤独症/Rho鸟嘌呤核苷酸交换因子/常见变异/遗传关联研究Key words
autism/Rho guanine nucleotide exchange factors/common variations/genetic association stud-ies分类
医药卫生引用本文复制引用
沈涵,李贤菁,郭靖,孙晓璇,卢天兰,岳伟华,张岱,王力芳,李俊..中国汉族人群中Rho鸟嘌呤核苷酸交换因子家族基因与孤独症的关联研究[J].中国心理卫生杂志,2026,40(5):369-376,8.基金项目
广东省重点领域研发计划(2019B030335001),国家自然科学基金(82471566、82171537、82271576) （2019B030335001）
