title: Association analysis of two single-nucleotide polymorphisms of the RELN gene with autism in the South African population.
abstract: BACKGROUND
  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.
  
  
  OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Biotechnology Department, Faculty of Natural Science, University of Western Cape, Bellville, South Africa.
authors.forename: Jyoti Rajan
authors.initials: JR
authors.lastname: Sharma
authors.forename: Zainunisha
authors.initials: Z
authors.lastname: Arieff
authors.forename: Hajirah
authors.initials: H
authors.lastname: Gameeldien
authors.forename: Muneera
authors.initials: M
authors.lastname: Davids
authors.forename: Mandeep
authors.initials: M
authors.lastname: Kaur
authors.forename: Lize
authors.initials: L
authors.lastname: van der Merwe
mesh_terms: D000293:Adolescent; D001321:Autistic Disorder / Q000235:genetics*; D015816:Cell Adhesion Molecules, Neuronal / Q000235:genetics*; D002648:Child; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D060888:Real-Time Polymerase Chain Reaction; D000091042:Reelin Protein; D012697:Serine Endopeptidases / Q000235:genetics*; D013019:South Africa
chemical_list: D015816:Cell Adhesion Molecules, Neuronal; D016326:Extracellular Matrix Proteins; D009419:Nerve Tissue Proteins; D000091042:Reelin Protein; C000717127:RELN protein, human; D012697:Serine Endopeptidases