Association Analysis of Two Single-Nucleotide Polymorphisms of theRELNGene 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. 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 Ò 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.

A Systematic Review of Research on Autism Spectrum Disorders in Sub-Saharan Africa

“…Small studies have identified specific genetic risk markers and nongenetic risk factors for ASD [11, 21]. Infectious diseases such as falciparum malaria have been suggested as possible antecedents to ASD [11], but the association has not been established.…”

“…Of the six studies identified in this category, 4 explored possible genetic and biomedical factors [11, 20–22]. Three of the studies looked at potential genetic markers, the ones by Ezegwui et al [20], Sharma et al [21], and Arieff et al [22]. The studies observed that certain genetic characteristics, for example, allele and genotype frequencies of 5-HTTLPR, were more likely to be associated with an increased risk of ASD.…”

Autism spectrum disorder in sub‐saharan africa: A comprehensive scoping review

“…Two papers on the genetics of ASD in SSA were identified [Arieff, Kaur, Gameeldien, van der Merwe, & Bajic, ; Sharma et al, ], both from South Africa. Arieff and colleagues compared allelic frequencies and genotypes of the 5‐HTT Linked Polymorphic Region (5‐HTTLPR) in African, mixed race, and Caucasian groups with ASD, matched controls without ASD, and an international group with ASD [Arieff et al, ].…”

“…Allelic frequency of the South African groups differed from the Japanese, Korean, and Indian groups but not from the French, German, Israeli, Portuguese and USA groups with ASD. Sharma et al () reported significant genetic association for SNPs of the RELN gene in South African participants with a diagnosis of ASD.…”

Profile protein autism analysis based bioinformatics as public dissemination materials in Malang about the potensial causes autism

“…Autis merupakan gangguan perkembangan saraf secara heterogen (Corbett, 2007), yang ditandai dengan gangguan interaksi sosial (Sharma & Arieff 2013;Corbett, 2007;Al-Ayadhi 2012), komunikasi (Corbett, 2007;Al-Ayadhi 2012;Sharma & Arieff 2013), dan kebiasaan yang berulang (Iwata, 2014;Jonsson, 2014;Sharma & Arieff 2013). Gangguan tersebut terjadi dengan level yang bermacam-macam (Alabdali, 2014) dan dapat diketahui sebelum anak berumur tiga tahun (Broek et al, 2014).…”