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学科主题: 精神卫生
题名:
Schizophrenia Related Variants in CACNA1C also Confer Risk of Autism
作者: Li, Jun1,2,3; Zhao, Linnan1,2,3; You, Yang1,2,3; Lu, Tianlan1,2,3; Jia, Meixiang1,2,3; Yu, Hao1,2,3,4; Ruan, Yanyan1,2,3; Yue, Weihua1,2,3; Liu, Jing1,2,3; Lu, Lin1,2,3,5; Zhang, Dai1,2,3,4,5; Wang, Lifang1,2,3
刊名: PLOS ONE
发表日期: 2015-07-23
DOI: 10.1371/journal.pone.0133247
卷: 10, 期:7
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Multidisciplinary Sciences
研究领域[WOS]: Science & Technology - Other Topics
关键词[WOS]: GENOME-WIDE ASSOCIATION ; SCAFFOLDING PROTEIN SHANK3 ; COMMON GENETIC-VARIANTS ; DE-NOVO MUTATIONS ; BIPOLAR DISORDER ; SPECTRUM DISORDERS ; ASPERGER-SYNDROME ; SUBUNIT GENE ; COPY NUMBER ; CONNECTIVITY
英文摘要:

Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders with a strong genetic component. Many lines of evidence indicated that ASD shares common genetic variants with other psychiatric disorders (for example, schizophrenia). Previous studies detected that calcium channels are involved in the etiology of many psychiatric disorders including schizophrenia and autism. Significant association between CACNA1C (calcium channel, voltage-dependent, L type, alpha 1C subunit) and schizophrenia was detected. Furthermore, rare mutation in CACNA1C is suggested to cause Timothy syndrome, a multisystem disorder including autism-associated phenotype. However, there is no evidence for association between CACNA1C and autism in Chinese Han population. To investigate the association between single nucleotide polymorphisms (SNP) in CACNA1C and autism, we first performed a family-based association study between eighteen SNPs in CACNA1C and autism in 239 trios. All SNPs were genotyped by using Sequenom genotyping platform. Two SNPs (rs1006737 and rs4765905) have a trend of association with autism. To further confirm the association between these two SNPs with autism, we expanded the sample size to 553 trios by adding 314 trios. Association analyses for SNPs and haplotype were performed by using family-based association test (FBAT) and Haploview software. Permutation tests were used for multiple testing corrections of the haplotype analyses (n=10,000). The significance level for all statistical tests was two-tailed (p<0.05). The results demonstrated that G allele of rs1006737 and G allele of rs4765905 showed a preferential transmission to affected offspring in 553 trios (p=0.035). Haplotype analyses showed that two haplotypes constructed from rs1006737 and rs4765905 were significantly associated with autism (p=0.030, 0.023, respectively; Global p=0.046). These results were still significant after permutation correction (n=10,000, p=0.027). Our research suggests that CACNA1C might play a role in the genetic etiology of autism in Chinese Han population.

语种: 英语
所属项目编号: 81471383 ; 81471360 ; Z131107002213100
项目资助者: National Natural Science Foundation ; Beijing Municipal Science &amp ; Technology Commission
WOS记录号: WOS:000358621000024
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/51023
Appears in Collections:北京大学精神卫生研究所_期刊论文

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作者单位: 1.Minist Hlth, Key Lab Mental Hlth, Beijing, Peoples R China
2.Peking Univ, Inst Mental Hlth, Hosp 6, Beijing 100871, Peoples R China
3.Peking Univ, Natl Clin Res Ctr Mental Disorders, Beijing 100871, Peoples R China
4.Peking Univ, Peking Tsinghua Ctr Life Sci, Beijing 100871, Peoples R China
5.Peking Univ, PKU IDG McGovern Inst Brain Res, Beijing 100871, Peoples R China

Recommended Citation:
Li, Jun,Zhao, Linnan,You, Yang,et al. Schizophrenia Related Variants in CACNA1C also Confer Risk of Autism[J]. PLOS ONE,2015,10(7).
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