Genetic Evidence for Possible Involvement of the Calcium Channel Gene CACNA1A in Autism Pathogenesis in Chinese Han Population |
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| Authors: | Jun Li Yang You Weihua Yue Meixiang Jia Hao Yu Tianlan Lu Zhiliu Wu Yanyan Ruan Lifang Wang Dai Zhang |
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| Institution: | 1. Institute of Mental Health, The Sixth Hospital, Peking University, Beijing, China.; 2. Key Laboratory of Mental Health, Ministry of Health & National Clinical Research Center for Mental Disorders (Peking University), Beijing, China.; 3. Peking-Tsinghua Center for Life Sciences, Peking University, Beijing, P. R. China.; 4. PKU-IDG/McGovern Institute for Brain Research, Peking University, Beijing, P. R. China.; The George Washington University, UNITED STATES, |
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| Abstract: | 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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