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

Li J, You Y, Yue W, Jia M, Yu H, Lu T, Wu Z, Ruan Y, Wang L, Zhang D - PLoS ONE (2015)

Bottom Line: 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.To further confirm the association, the sample size was expanded to 553 trios by recruiting 314 additional trios.

View Article: PubMed Central - PubMed

Affiliation: Institute of Mental Health, The Sixth Hospital, Peking University, Beijing, China.

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.

Show MeSH

Related in: MedlinePlus

A diagram of the position of selected 12 SNPs in CACNA1A.A diagram of the structure of CACNA1A, exons are in black. The selected 12 SNPs were noted.
© Copyright Policy
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC4643966&req=5

pone.0142887.g001: A diagram of the position of selected 12 SNPs in CACNA1A.A diagram of the structure of CACNA1A, exons are in black. The selected 12 SNPs were noted.

Mentions: Genotype data in Chinese Han in Beijing (CHB) from HapMap phase Ⅱ and Ⅲ were downloaded from the HapMap genotype dataset (http://hapmap.ncbi.nlm.nih.gov/). Then, pairwise tagging in the Tagger module in Haploview version 4.2 program (http://www.broad.mit.edu/mpg/haploview/) was also carried out to select SNPs that could capture the common genetic variations (r2>0.8). Furthermore, physical distance between SNPs and minor allele frequency (MAF)>0.05 were considered. Therefore, twelve tagged SNPs in CACAN1A were selected from 13214919 bp to 13488269 bp on chromosome 19 with a mean inter-SNP distance of 23 Kb (GRCH38, National Center for Biotechnology Information [NCBI]) (Fig 1).


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

Li J, You Y, Yue W, Jia M, Yu H, Lu T, Wu Z, Ruan Y, Wang L, Zhang D - PLoS ONE (2015)

A diagram of the position of selected 12 SNPs in CACNA1A.A diagram of the structure of CACNA1A, exons are in black. The selected 12 SNPs were noted.
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4643966&req=5

pone.0142887.g001: A diagram of the position of selected 12 SNPs in CACNA1A.A diagram of the structure of CACNA1A, exons are in black. The selected 12 SNPs were noted.
Mentions: Genotype data in Chinese Han in Beijing (CHB) from HapMap phase Ⅱ and Ⅲ were downloaded from the HapMap genotype dataset (http://hapmap.ncbi.nlm.nih.gov/). Then, pairwise tagging in the Tagger module in Haploview version 4.2 program (http://www.broad.mit.edu/mpg/haploview/) was also carried out to select SNPs that could capture the common genetic variations (r2>0.8). Furthermore, physical distance between SNPs and minor allele frequency (MAF)>0.05 were considered. Therefore, twelve tagged SNPs in CACAN1A were selected from 13214919 bp to 13488269 bp on chromosome 19 with a mean inter-SNP distance of 23 Kb (GRCH38, National Center for Biotechnology Information [NCBI]) (Fig 1).

Bottom Line: 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.To further confirm the association, the sample size was expanded to 553 trios by recruiting 314 additional trios.

View Article: PubMed Central - PubMed

Affiliation: Institute of Mental Health, The Sixth Hospital, Peking University, Beijing, China.

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.

Show MeSH
Related in: MedlinePlus