Methyl-CpG-binding Protein 2 Polymorphisms and Vulnerability to Autism

Overview

Journal Genes Brain Behav

Specialties Genetics
Neurology
Social Sciences

Date 2009 Jan 8

PMID 19125863

Citations 33

Authors

C S Loat

S Curran

C M Lewis

J Duvall

D Geschwind

P Bolton

I W Craig

Affiliations

Soon will be listed here.

Abstract

The methyl-binding protein gene, MECP2, is a candidate for involvement in autism through its implication as a major causative factor in Rett syndrome that has similarities to autism. Rare mutations in MECP2 have also been identified in autistic individuals. We have examined the possible broader involvement of MECP2 as a predisposing factor in the disorder. Analysis of polymorphic markers spanning the gene and comprising both microsatellites and single nucleotide polymorphisms (SNPs) by the transmission disequilibrium test in two collections of families (219 in total), one in the USA and one in the UK, has provided evidence for significant association (P = 0.009) for a three-marker SNP haplotype of MECP2 with autism/autism spectrum disorders. This association is supported by association of both Single Sequence Repeat (SSR) and SNP single markers located at the 3' end of the MECP2 locus and flanking sequence, the most significant being that of an indel marker located in intron 2 (P = 0.001 - Bonferroni corrected P = 0.006). This suggests that one or more functional variants of MECP2 existing at significant frequencies in the population may confer increased risk of autism/autism spectrum disorders and warrants further investigation in additional independent samples.

Citing Articles

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