Format

Send to

Choose Destination
See comment in PubMed Commons below
J Autism Dev Disord. 2011 Jul;41(7):938-44. doi: 10.1007/s10803-010-1120-x.

Population- and family-based studies associate the MTHFR gene with idiopathic autism in simplex families.

Author information

  • 1Department of Psychiatry & Physiology, Queen's University, Autism Research Program, Ongwanada Resource Centre, 191 Portsmouth Avenue, Kingston, ON K7M 8A6, Canada.

Abstract

Two methylenetetrahydrofolate reductase gene (MTHFR) functional polymorphisms were studied in 205 North American simplex (SPX) and 307 multiplex (MPX) families having one or more children with an autism spectrum disorder. Case-control comparisons revealed a significantly higher frequency of the low-activity 677T allele, higher prevalence of the 677TT genotype and higher frequencies of the 677T-1298A haplotype and double homozygous 677TT/1298AA genotype in affected individuals relative to controls. Family-based association testing demonstrated significant preferential transmission of the 677T and 1298A alleles and the 677T-1298A haplotype to affected offspring. The results were not replicated in MPX families. The results associate the MTHFR gene with autism in SPX families only, suggesting that reduced MTHFR activity is a risk factor for autism in these families.

PMID:
21069446
DOI:
10.1007/s10803-010-1120-x
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Springer
    Loading ...
    Support Center