Analysis of the MTHFR 1298A → C and 677C → T polymorphisms as risk factors for neural tube defects

Anne Parle-McDermott, James L. Mills, Peadar N. Kirke, Valerie B. O'Leary, Deborah A. Swanson, Faith Pangilinan, Mary Conley, Anne M. Molloy, Christopher Cox, John M. Scott, Lawrence C. Brody

Research output: Contribution to journalArticlepeer-review

Abstract

The thermolabile variant (677TT) of methylenetetrahydrofolate reductase (MTHFR) is a known risk factor for neural tube defects (NTDs). The relationship between a second MTHFR polymorphism (1298A → C) and NTD risk has been inconsistent between studies. We genotyped 276 complete NTD triads (mother, father and child affected with an NTD) and 256 controls for MTHFR 1298A → C. Our findings do not support a role for the 1298A → C polymorphism in NTDs (OR 0.85 (95% CI 0.49-1.47), p= 0.55), nor do we observe a combined effect with the 677C → T polymorphism.

Original languageEnglish (US)
Pages (from-to)190-193
Number of pages4
JournalJournal of Human Genetics
Volume48
Issue number4
DOIs
StatePublished - 2003
Externally publishedYes

Keywords

  • A1298C
  • C677T
  • Linkage disequilibrium
  • MTHFR
  • Neural tube defects

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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