title: MTHFD1 R653Q polymorphism is a maternal genetic risk factor for severe abruptio placentae.
abstract: 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.'
authors.affiliation: Department of Biochemistry, Trinity College Dublin, Dublin, Ireland.
authors.forename: Anne
authors.initials: A
authors.lastname: Parle-McDermott
authors.forename: James L
authors.initials: JL
authors.lastname: Mills
authors.forename: Peadar N
authors.initials: PN
authors.lastname: Kirke
authors.forename: Christopher
authors.initials: C
authors.lastname: Cox
authors.forename: Caroline C
authors.initials: CC
authors.lastname: Signore
authors.forename: Sandra
authors.initials: S
authors.lastname: Kirke
authors.forename: Anne M
authors.initials: AM
authors.lastname: Molloy
authors.forename: Valerie B
authors.initials: VB
authors.lastname: O'Leary
authors.forename: Faith J
authors.initials: FJ
authors.lastname: Pangilinan
authors.forename: Colm
authors.initials: C
authors.lastname: O'Herlihy
authors.forename: Lawrence C
authors.initials: LC
authors.lastname: Brody
authors.forename: John M
authors.initials: JM
authors.lastname: Scott
mesh_terms: D000037:Abruptio Placentae / Q000201:enzymology / Q000235:genetics*; D000483:Alleles; D019943:Amino Acid Substitution; D004247:DNA / Q000032:analysis / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006720:Homozygote; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D012307:Risk Factors
chemical_list: D004247:DNA; D042965:Methylenetetrahydrofolate Reductase (NADPH2)