Association analysis of two single-nucleotide polymorphisms of the RELN gene with autism in the South African population
AuthorsSharma, Jyoti Rajan
van der Merwe, Lize
KAUST DepartmentComputational Bioscience Research Center (CBRC)
Permanent link to this recordhttp://hdl.handle.net/10754/562632
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AbstractBackground: Autism (MIM209850) is a neurodevelopmental disorder characterized by a triad of impairments, namely impairment in social interaction, impaired communication skills, and restrictive and repetitive behavior. A number of family and twin studies have demonstrated that genetic factors play a pivotal role in the etiology of autistic disorder. Various reports of reduced levels of reelin protein in the brain and plasma in autistic patients highlighted the role of the reelin gene (RELN) in autism. There is no such published study on the South African (SA) population. Aims: The aim of the present study was to find the genetic association of intronic rs736707 and exonic rs362691 (single-nucleotide polymorphisms [SNPs] of the RELN gene) with autism in a SA population. Methods: Genomic DNA was isolated from cheek cell swabs from autistic (136) as well as control (208) subjects. The TaqMan ® Real-Time polymerase chain reaction and genotyping assay was utilized to determine the genotypes. Results: A significant association of SNP rs736707, but not for SNP rs362691, with autism in the SA population is observed. Conclusion: There might be a possible role of RELN in autism, especially for SA populations. The present study represents the first report on genetic association studies on the RELN gene in the SA population. © 2013, Mary Ann Liebert, Inc.
SponsorsWe would like to thank the National Research Foundation, South Africa (Thuthuka grant TTK2008050600011), Autism South Africa, and the University of the Western Cape, for funds provided for this study. We also want to thank the children, their parents, the school staff, and volunteers of the Western Cape Education department for their support and involvement during sample collection.
PublisherMary Ann Liebert Inc
PubMed Central IDPMC3552159
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