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Related Experiment Videos

Screening for new MTHFR polymorphisms and NTD risk.

Valerie B O'Leary1, James L Mills, Anne Parle-McDermott

  • 1Department of Biochemistry, Trinity College Dublin, Dublin, Ireland. olearyv@tcd.ie

American Journal of Medical Genetics. Part A
|September 8, 2005
PubMed
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New MTHFR gene variants, P39P and R594Q, were investigated for neural tube defect (NTD) risk. These variants are not independent risk factors, with associations driven by linkage disequilibrium with the known A222V NTD risk factor.

Area of Science:

  • Genetics
  • Molecular Biology
  • Public Health

Background:

  • 5,10-methylenetetrahydrofolate reductase (MTHFR) is crucial for folate metabolism.
  • The MTHFR A222V (677C->T) polymorphism is a known risk factor for neural tube defects (NTDs).
  • Investigating novel MTHFR single nucleotide polymorphisms (SNPs) may elucidate further NTD etiology.

Purpose of the Study:

  • To identify and characterize novel SNPs in the MTHFR gene.
  • To assess the association of MTHFR SNPs P39P and R594Q with NTD risk in an Irish population.
  • To determine allele and genotype frequencies of P39P and R594Q in diverse ethnic groups.

Main Methods:

  • Sequencing and database analysis of the MTHFR coding region in healthy individuals.
  • SNP identification and allele frequency determination.

Related Experiment Videos

  • Screening of a large Irish NTD cohort and transmission disequilibrium testing.

    • Main Results:

    • The novel P39P (116C->T) and previously reported R594Q (1793G->A) MTHFR SNPs were identified.
    • Initial associations of P39P and R594Q with NTDs were observed but not confirmed.
    • These associations were attributed to linkage disequilibrium with the established A222V NTD risk factor.

    Conclusions:

    • The MTHFR SNPs P39P and R594Q are unlikely to be independent risk factors for NTDs.
    • Observed associations are driven by linkage disequilibrium with the MTHFR A222V polymorphism.
    • This study provides the first NTD association analysis for both R594Q and the novel P39P.