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Schizophrenia Related Variants in CACNA1C also Confer Risk of Autism
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
2015-07-23
DOI10.1371/journal.pone.0133247
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
WOS记录号WOS:000358621000024
项目编号81471383 ; 81471360 ; Z131107002213100
资助机构National Natural Science Foundation ; Beijing Municipal Science &amp ; Technology Commission
引用统计
被引频次:7[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/51023
专题北京大学精神卫生研究所
北京大学第一临床医学院_妇产科
北京大学精神卫生研究所_精神科
北京大学精神卫生研究所_生化室
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
推荐引用方式
GB/T 7714
Li, Jun,Zhao, Linnan,You, Yang,et al. Schizophrenia Related Variants in CACNA1C also Confer Risk of Autism[J]. PLOS ONE,2015,10(7).
APA Li, Jun.,Zhao, Linnan.,You, Yang.,Lu, Tianlan.,Jia, Meixiang.,...&Wang, Lifang.(2015).Schizophrenia Related Variants in CACNA1C also Confer Risk of Autism.PLOS ONE,10(7).
MLA Li, Jun,et al."Schizophrenia Related Variants in CACNA1C also Confer Risk of Autism".PLOS ONE 10.7(2015).
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