Association analysis of two single-nucleotide polymorphisms of the RELN gene with autism in the South African population

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dc.contributor.authorSharma, Jyoti Rajan
dc.contributor.authorArieff, Zainunisha
dc.contributor.authorGameeldien, Hajirah
dc.contributor.authorDavids, Muneera
dc.contributor.authorKaur, Mandeep
dc.contributor.authorvan der Merwe, Lize
dc.date.accessioned2018-02-05T17:27:28Z
dc.date.available2018-02-05T17:27:28Z
dc.date.issued2013
dc.description.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.en_US
dc.description.accreditationWeb of Science
dc.identifier.citationSharma, J.R. et al. (2013). Association analysis of two single-nucleotide polymorphisms of the RELN gene with autism in the South African population. Genetic testing and Molecular Biomarkers, 17(2): 93 – 98.en_US
dc.identifier.issn1945-0265
dc.identifier.urihttp://dx.doi.org/10.1089/gtmb.2012.0212
dc.identifier.urihttp://hdl.handle.net/10566/3473
dc.language.isoenen_US
dc.privacy.showsubmitterFALSE
dc.publisherMary Ann Liebert, Inc.en_US
dc.rightsThis is the author-version of the article published online at: http://dx.doi.org/10.1089/gtmb.2012.0212
dc.status.ispeerreviewedTRUE
dc.subjectAutismen_US
dc.subjectRELN geneen_US
dc.subjectSouth Africaen_US
dc.subjectNeurodevelopmental disorderen_US
dc.titleAssociation analysis of two single-nucleotide polymorphisms of the RELN gene with autism in the South African populationen_US
dc.typeArticleen_US

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