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

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 neu...

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Autores principales: Li, Jun, You, Yang, Yue, Weihua, Jia, Meixiang, Yu, Hao, Lu, Tianlan, Wu, Zhiliu, Ruan, Yanyan, Wang, Lifang, Zhang, Dai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4643966/
https://www.ncbi.nlm.nih.gov/pubmed/26566276
http://dx.doi.org/10.1371/journal.pone.0142887
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author Li, Jun
You, Yang
Yue, Weihua
Jia, Meixiang
Yu, Hao
Lu, Tianlan
Wu, Zhiliu
Ruan, Yanyan
Wang, Lifang
Zhang, Dai
author_facet Li, Jun
You, Yang
Yue, Weihua
Jia, Meixiang
Yu, Hao
Lu, Tianlan
Wu, Zhiliu
Ruan, Yanyan
Wang, Lifang
Zhang, Dai
author_sort Li, Jun
collection PubMed
description 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.
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spelling pubmed-46439662015-11-18 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 PLoS One Research Article 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. Public Library of Science 2015-11-13 /pmc/articles/PMC4643966/ /pubmed/26566276 http://dx.doi.org/10.1371/journal.pone.0142887 Text en © 2015 Li et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Li, Jun
You, Yang
Yue, Weihua
Jia, Meixiang
Yu, Hao
Lu, Tianlan
Wu, Zhiliu
Ruan, Yanyan
Wang, Lifang
Zhang, Dai
Genetic Evidence for Possible Involvement of the Calcium Channel Gene CACNA1A in Autism Pathogenesis in Chinese Han Population
title Genetic Evidence for Possible Involvement of the Calcium Channel Gene CACNA1A in Autism Pathogenesis in Chinese Han Population
title_full Genetic Evidence for Possible Involvement of the Calcium Channel Gene CACNA1A in Autism Pathogenesis in Chinese Han Population
title_fullStr Genetic Evidence for Possible Involvement of the Calcium Channel Gene CACNA1A in Autism Pathogenesis in Chinese Han Population
title_full_unstemmed Genetic Evidence for Possible Involvement of the Calcium Channel Gene CACNA1A in Autism Pathogenesis in Chinese Han Population
title_short Genetic Evidence for Possible Involvement of the Calcium Channel Gene CACNA1A in Autism Pathogenesis in Chinese Han Population
title_sort genetic evidence for possible involvement of the calcium channel gene cacna1a in autism pathogenesis in chinese han population
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4643966/
https://www.ncbi.nlm.nih.gov/pubmed/26566276
http://dx.doi.org/10.1371/journal.pone.0142887
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