Immune function genes CD99L2, JARID2 and TPO show association with autism spectrum disorderReportar como inadecuado

Immune function genes CD99L2, JARID2 and TPO show association with autism spectrum disorder - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

Molecular Autism

, 3:4

First Online: 09 June 2012Received: 16 December 2011Accepted: 09 June 2012


BackgroundA growing number of clinical and basic research studies have implicated immunological abnormalities as being associated with and potentially responsible for the cognitive and behavioral deficits seen in autism spectrum disorder ASD children. Here we test the hypothesis that immune-related gene loci are associated with ASD.

FindingsWe identified 2,012 genes of known immune-function via Ingenuity Pathway Analysis. Family-based tests of association were computed on the 22,904 single nucleotide polymorphisms SNPs from the 2,012 immune-related genes on 1,510 trios available at the Autism Genetic Resource Exchange AGRE repository. Several SNPs in immune-related genes remained statistically significantly associated with ASD after adjusting for multiple comparisons. Specifically, we observed significant associations in the CD99 molecule-like 2 region CD99L2, rs11796490, P = 4.01 × 10, OR = 0.68 0.58-0.80, in the jumonji AT rich interactive domain 2 JARID2 gene rs13193457, P = 2.71 × 10, OR = 0.61 0.49-0.75, and in the thyroid peroxidase gene TPO rs1514687, P = 5.72 × 10, OR = 1.46 1.24-1.72.

ConclusionsThis study suggests that despite the lack of a general enrichment of SNPs in immune function genes in ASD children, several novel genes with known immune functions are associated with ASD.

KeywordsAutism Spectrum Disorders immune loci family-based association analysis single-nucleotide polymorphism AbbreviationsAGREAutism Genetic Resource Exchange

ASDsAutism Spectrum Disorders

CIconfidence interval

FDRFalse Discovery Rate

GWASgenome wide association studies

HWEHardy-Weinberg Equilibrium

IPAIngenuity Pathway Analysis

JARID2jumonji AT rich interactive domain 2

MAFminor allele frequency

ORodds ratio

PDTPedigree Disequilibrium Test

P-FDRFalse Discovery Rate-adjusted P-value

SNPsingle nucleotide polymorphism

TDTTransmission Disequilibrium Test

TPOthyroid peroxidase gene.

Electronic supplementary materialThe online version of this article doi:10.1186-2040-2392-3-4 contains supplementary material, which is available to authorized users.

Download fulltext PDF

Autor: Paula S Ramos - Satria Sajuthi - Carl D Langefeld - Stephen J Walker


Documentos relacionados