MTHFD1 R653Q polymorphism is a maternal genetic risk factor for severe abruptio placentae

Anne Parle-McDermott, James L. Mills, Peadar N. Kirke, Christopher Cox, Caroline C. Signore, Sandra Kirke, Anne M. Molloy, Valerie B. O'Leary, Faith J. Pangilinan, Colm O'Herlihy, Lawrence C. Brody, John M. Scott

Research output: Contribution to journalArticlepeer-review


This study examined the relationship between folate/homocysteine-related genetic polymorphisms: MTHFD1 1958G → A (R653Q), MTHFR 677C → T (A222V), MTHFR 1298A → C (E429A), and risk of severe abruptio placentae. We genotyped 62 women with a pregnancy history complicated by severe abruptio placentae and 184 control pregnancies. Analysis of the MTHFD1 1958G → A (R653Q) polymorphism showed increased frequency of the 'QQ' homozygote genotype in pregnancies affected by severe abruptio placentae compared to control pregnancies (odds ratio 2.85 (1.47-5.53), P = 0.002). In contrast to previous reports, the MTHFR polymorphisms 677C → T (A222V) and 1298A → C (E429A) were not associated with abruptio placentae risk in our cohort, when analyzed either independently or in combination. We conclude that women who are 'QQ' homozygote for the MTHFD1 1258G → A (R653Q) polymorphism are almost three times more likely to develop severe abruptio placentae during their pregnancy than women who are 'RQ' or 'RR'.

Original languageEnglish (US)
Pages (from-to)365-368
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume132 A
Issue number4
StatePublished - Feb 1 2005
Externally publishedYes


  • Abruptio placentae
  • C1 synthase
  • Folate
  • MTHFD1
  • Placental abruption

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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