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

Jun Li,Meixiang Jia,Hao Yu,Weihua Yue,Dai Zhang,Zhiliu Wu,Yang You,Yanyan Ruan,Tianlan Lu,Lifang Wang,Valerie W Hu

doi:10.1371/journal.pone.0142887

Jun Li, Meixiang Jia + Show 9 more

Open Access

https://doi.org/10.1371/journal.pone.0142887

Copy DOI

Journal: PloS one	Publication Date: Nov 13, 2015
Citations: 20	License type: CC BY 4.0

Affiliation: Peking University

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.

Highlights

Autism spectrum disorders (ASD) are a common neurodevelopmental disorder characterized by abnormality in three domains: deficit in social interaction, impairment in communication skills, and the presence of stereotyped behaviors [1]
Genotype frequencies and Hardy-Weinberg equilibrium data in the 239 trios are shown in S1 Table
We performed a family-based association study to investigate the association between CACNA1A and autism in Chinese Han population

Summary

Introduction

Autism spectrum disorders (ASD) are a common neurodevelopmental disorder characterized by abnormality in three domains: deficit in social interaction, impairment in communication skills, and the presence of stereotyped behaviors [1]. These core symptoms are detected within the first three years of age. Previous studies reported that ASD affect approximately 1 out of 88 children, with a male to female ratio of 4:1 [2,3]. Autism is generally attributed strong genetic underpinnings. Twin studies suggested an estimated heritability of almost 90% for autism.

Methods

Results

Conclusion