title: Maternal and fetal variants of genetic thrombophilias and the risk of preeclampsia.
abstract: BACKGROUND
  A woman's thrombophilic genes may increase her risk of preeclampsia in pregnancy. Vascular conditions of the placenta related to thrombophilic genes of the fetus could also be relevant for preeclampsia. The case-parent triad study design provides separate estimation of maternal and fetal genes.
  
  
  METHODS
  We recruited 92 mother-father-child triads of preeclamptic pregnancies from a birth clinic in Stavanger, Norway. All parents were of Norwegian origin. Maternal, paternal, and fetal DNA were genotyped for the methylenetetrahydrofolate reductase (MTHFR) C677T and Factor V Leiden (FVL) G1691A SNPs. Estimation of the relative risk (RR) associated with fetal and maternal genetic variants was performed by log-linear models.
  
  
  RESULTS
  There was no indication of an effect of the child's FVL alleles on preeclampsia risk. For case babies with 2 copies of the variant allele, the association with the MTHFR variant was inconclusive (RR = 1.6; 95% confidence interval [CI] = 0.6-4.3). Case mothers who were homozygous for the MTHFR variant had a relative risk of 2.0 (CI = 1.0-4.1) assuming a recessive gene effect. A 2.5-fold risk (CI = 1.1-5.7) of preeclampsia was estimated when the mother carried one copy of the FVL. Among mothers homozygous for the MTHFR variant, the relative risk of the FVL variant was 4.6-fold (CI = 1.0-21).
  
  
  CONCLUSIONS
  We found little evidence of an effect of the child's MTHFR or FVL alleles on the risk of preeclampsia. Our estimates of effects of maternal MTHFR and FVL alleles were consistent with estimates from case-control studies. The case-parent triad design may be a useful tool for studies of pregnancy complications such as preeclampsia.
authors.affiliation: Department of Medical Biochemistry, Rogaland Central Hospital, Stavanger, Norway. vehe@ext.sir.no
authors.forename: Hege
authors.initials: H
authors.lastname: Vefring
authors.forename: Rolv Terje
authors.initials: RT
authors.lastname: Lie
authors.forename: Rønnaug
authors.initials: R
authors.lastname: ØDegård
authors.forename: M Azam
authors.initials: MA
authors.lastname: Mansoor
authors.forename: Stein Tore
authors.initials: ST
authors.lastname: Nilsen
mesh_terms: D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D005165:Factor V / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D014644:Genetic Variation; D006801:Humans; D007231:Infant, Newborn; D016014:Linear Models; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009664:Norway / Q000453:epidemiology; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011225:Pre-Eclampsia / Q000453:epidemiology / Q000235:genetics*; D011247:Pregnancy; D015995:Prevalence; D012016:Reference Values; D018570:Risk Assessment; D019851:Thrombophilia / Q000453:epidemiology / Q000235:genetics*
chemical_list: C095381:factor V Leiden; D005165:Factor V; D042965:Methylenetetrahydrofolate Reductase (NADPH2)