MTHFD1 R653Q polymorphism is a maternal genetic risk factor for severe abruptio placentae.
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.'
Parle-McDermott
Anne
A
Department of Biochemistry, Trinity College Dublin, Dublin, Ireland.
Mills
James L
JL
Kirke
Peadar N
PN
Cox
Christopher
C
Signore
Caroline C
CC
Kirke
Sandra
S
Molloy
Anne M
AM
O'Leary
Valerie B
VB
Pangilinan
Faith J
FJ
O'Herlihy
Colm
C
Brody
Lawrence C
LC
Scott
John M
JM
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
D004247:DNA; D042965:Methylenetetrahydrofolate Reductase (NADPH2)