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Rare Single Nucleotide Polymorphisms in the Regulatory Regions of the Superoxide Dismutase Genes in Autism Spectrum Disorder
Author(s) -
Kovač Jernej,
Macedoni Lukšič Marta,
Trebušak Podkrajšek Katarina,
Klančar Gašper,
Battelino Tadej
Publication year - 2014
Publication title -
autism research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.656
H-Index - 66
eISSN - 1939-3806
pISSN - 1939-3792
DOI - 10.1002/aur.1345
Subject(s) - sod2 , single nucleotide polymorphism , genetics , superoxide dismutase , sod1 , minor allele frequency , biology , snp , allele , gene , population , autism spectrum disorder , high resolution melt , oxidative stress , autism , genotype , medicine , endocrinology , mutant , psychiatry , environmental health
Oxidative stress is suspected to be one of the several contributing factors in the etiology of autism spectrum disorder ( ASD ). We analyzed genes of the superoxide dismutase family ( SOD 1 , SOD 2 , and SOD 3 ) that are part of a major antioxidative stress system in human in order to detect the genetic variants contributing to the development of ASD . Using the optimized high‐resolution melting ( HRM ) analysis, we identified two rare single nucleotide polymorphisms ( SNPs ) associated with the etiology of ASD . Both are located in the superoxide dismutase 1 ( SOD 1 ) gene and have a minor allele frequency in healthy population ∼5%. The SNP c.239 + 34 A > C (rs2234694) and SNP g.3341 C > G (rs36233090) were detected with an odds ratio of 2.65 and P < 0.01. Both are located in the noncoding potentially regulatory regions of the SOD 1 gene. This adds to the importance of rare SNP s in the etiology of complex diseases as well as to the importance of noncoding genetic variants analysis with a potential influence on the regulation of gene expression. Autism Res 2014, 7: 138–144. © 2013 International Society for Autism Research, Wiley Periodicals, Inc.