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...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2015-01-01
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| Series: | PLoS ONE |
| Online Access: | https://doi.org/10.1371/journal.pone.0142887 |
| _version_ | 1819001912751554560 |
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| author | Jun Li Yang You Weihua Yue Meixiang Jia Hao Yu Tianlan Lu Zhiliu Wu Yanyan Ruan Lifang Wang Dai Zhang |
| author_facet | Jun Li Yang You Weihua Yue Meixiang Jia Hao Yu Tianlan Lu Zhiliu Wu Yanyan Ruan Lifang Wang Dai Zhang |
| author_sort | Jun Li |
| collection | DOAJ |
| 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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| id | doaj.art-9e0062f0f16e469aa0997bfb9201b1aa |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-12-20T22:56:45Z |
| publishDate | 2015-01-01 |
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| series | PLoS ONE |
| spelling | doaj.art-9e0062f0f16e469aa0997bfb9201b1aa2022-12-21T19:24:06ZengPublic Library of Science (PLoS)PLoS ONE1932-62032015-01-011011e014288710.1371/journal.pone.0142887Genetic Evidence for Possible Involvement of the Calcium Channel Gene CACNA1A in Autism Pathogenesis in Chinese Han Population.Jun LiYang YouWeihua YueMeixiang JiaHao YuTianlan LuZhiliu WuYanyan RuanLifang WangDai ZhangAutism 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.https://doi.org/10.1371/journal.pone.0142887 |
| spellingShingle | Jun Li Yang You Weihua Yue Meixiang Jia Hao Yu Tianlan Lu Zhiliu Wu Yanyan Ruan Lifang Wang Dai Zhang Genetic Evidence for Possible Involvement of the Calcium Channel Gene CACNA1A in Autism Pathogenesis in Chinese Han Population. PLoS ONE |
| 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 |
| url | https://doi.org/10.1371/journal.pone.0142887 |
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