%0 Journal Article
%T A quantitative association study of SLC25A12 and restricted repetitive behavior traits in autism spectrum disorders
%A Soo-Jeong Kim
%A Raquel M Silva
%A Cindi G Flores
%A Suma Jacob
%A Stephen Guter
%A Gregory Valcante
%A Annette M Zaytoun
%A Edwin H Cook
%A Judith A Badner
%J Molecular Autism
%D 2011
%I BioMed Central
%R 10.1186/2040-2392-2-8
%X We used the Repetitive Behavior Scale-Revised (RBS-R) as a quantitative RRB measure, and conducted linear regression analyses for individual SNPs and a previously identified haplotype (rs2056202-rs2292813). We examined associations in our University of Illinois at Chicago-University of Florida (UIC-UF) sample (179 unrelated individuals with an ASD), and then attempted to replicate our findings in the Simons Simplex Collection (SSC) sample (720 ASD families).In the UIC-UF sample, three RBS-R scores (ritualistic, sameness, sum) had positive associations with the A allele of rs2292813 (p = 0.006-0.012) and with the rs2056202-rs2292813 haplotype (omnibus test, p = 0.025-0.040). The SSC sample had positive associations between the A allele of rs2056202 and four RBS-R scores (stereotyped, sameness, restricted, sum) (p = 0.006-0.010), between the A allele of rs908670 and three RBS-R scores (stereotyped, self-injurious, sum) (p = 0.003-0.015), and between the rs2056202-rs2292813 haplotype and six RBS-R scores (stereotyped, self-injurious, compulsive, sameness, restricted, sum)(omnibus test, p = 0.002-0.028). Taken together, the A alleles of rs2056202 and rs2292813 were consistently and positively associated with RRB traits in both the UIC-UF and SSC samples, but the most significant SNP with phenotype association varied in each dataset.This study confirmed an association between SLC25A12 and RRB traits in ASDs, but the direction of the association was different from that in the initial study. This could be due to the examined SLC25A12 SNPs being in linkage disequilibrium with another risk allele, and/or genetic/phenotypic heterogeneity of the ASD samples across studies.Autism spectrum disorders (ASDs) are characterized by qualitative impairments in reciprocal social interaction and communication, and by the presence of restricted repetitive behavior (RRB) [1]. ASDs are highly heritable complex genetic disorders with rare variants, oligogenic inheritance, and interactions be
%U http://www.molecularautism.com/content/2/1/8