Genetic Evidence for Possible Involvement of the Calcium Channel Gene   CACNA1A in Autism Pathogenesis in Chinese Han Population

doi:10.1371/journal.pone.0142887

CORC > 北京大学 > 生命科学学院

	Genetic Evidence for Possible Involvement of the Calcium Channel Gene CACNA1A in Autism Pathogenesis in Chinese Han Population
	Li, Jun ; You, Yang ; Yue, Weihua ; Jia, Meixiang ; Yu, Hao ; Lu, Tianlan ; Wu, Zhiliu ; Ruan, Yanyan ; Wang, Lifang ; Zhang, Dai
刊名	PLOS ONE
	2015
关键词	HEMIPLEGIC MIGRAINE GENOME-WIDE DISORDERS MUTATION CEREBELLUM HYPOPLASIA VARIANTS BEHAVIOR REVEAL LOCI
DOI	10.1371/journal.pone.0142887
英文摘要	Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders. Recent studies suggested that calcium channel genes might be involved in the genetic etiology of ASD. CACNA1A, encoding an alpha-1 subunit of voltage-gated calcium channel, has been reported to play an important role in neural development. Previous study detected that a single nucleotide polymorphism (SNP) in CACNA1A confers risk to ASD in Central European population. However, the genetic relationship between autism and CACNA1A in Chinese Han population remains unclear. To explore the association of CACNA1A with autism, we performed a family-based association study. First, we carried out a family-based association test between twelve tagged SNPs and autism in 239 trios. To further confirm the association, the sample size was expanded to 553 trios by recruiting 314 additional trios. In a total of 553 trios, we identified association of rs7249246 and rs12609735 with autism though this would not survive after Bonferroni correction. Our findings suggest that CACNA1A might play a role in the etiology of autism.; National Natural Science Foundation of China [81471383, 81471360]; Beijing Municipal Science & Technology Commission [Z131107002213100]; SCI(E); PubMed; ARTICLE; lifangwang@bjmu.edu.cn; daizhang@bjmu.edu.cn; 11; e0142887; 10
语种	中文
内容类型	期刊论文
源URL	[http://ir.pku.edu.cn/handle/20.500.11897/416764]
专题	生命科学学院心理与认知科学学院
推荐引用方式 GB/T 7714	Li, Jun,You, Yang,Yue, Weihua,et al. Genetic Evidence for Possible Involvement of the Calcium Channel Gene CACNA1A in Autism Pathogenesis in Chinese Han Population[J]. PLOS ONE,2015.
APA	Li, Jun.,You, Yang.,Yue, Weihua.,Jia, Meixiang.,Yu, Hao.,...&Zhang, Dai.(2015).Genetic Evidence for Possible Involvement of the Calcium Channel Gene CACNA1A in Autism Pathogenesis in Chinese Han Population.PLOS ONE.
MLA	Li, Jun,et al."Genetic Evidence for Possible Involvement of the Calcium Channel Gene CACNA1A in Autism Pathogenesis in Chinese Han Population".PLOS ONE (2015).