title: Association of MTHFR genetic variants C677T and A1298C on predisposition to spontaneous abortion in Slavonic population.
abstract: OBJECTIVE
  Up to 20% of pregnancies end in the first trimester by spontaneous abortion but the cause of a large proportion remains unexplained. The aim of this study was to investigate the role of two common variants (rs1801133, C677T and rs1801131, A1298C) within the MTHFR gene in the genetic determination of spontaneous abortions.
  
  
  METHODS
  DNA from 464 tissue samples of spontaneous abortions and population sample of adults (N=2,486) were genotyped for both MTHFR polymorphisms of interest.
  
  
  RESULTS
  The frequencies of the MTHFR polymorphisms in tissues from spontaneous abortions did not differ from the population cohort. However, when combined, carriers of at least three rs1801133 and/or rs1801131 alleles were more common in the spontaneous abortions (61.4%) than in controls (55.4%) and this combination was associated with higher risk of abortion (OR 1.28; 95% CI 1.05-1.57; P=0.017). In contrast, carriers of at least three minor alleles (T677 and C1298) of these polymorphisms were very rare in both groups (0.8% and 0.9% respectively).
  
  
  CONCLUSIONS
  Our study suggests that distinct combinations of the MTHFR polymorphisms could be associated with higher risk of spontaneous abortions in Caucasians.
authors.affiliation: Centre for Experimental Medicine, Institute for Clinical and Experimental Medicine, Prague, Czech Republic. Electronic address: jahb@ikem.cz.
authors.forename: Jaroslav A
authors.initials: JA
authors.lastname: Hubacek
authors.affiliation: Centre for Experimental Medicine, Institute for Clinical and Experimental Medicine, Prague, Czech Republic. Electronic address: rynji@seznam.cz.
authors.forename: Jitka
authors.initials: J
authors.lastname: Rynekrova
authors.affiliation: Department of Obstetrics and Gynecology, 1st Faculty of Medicine and General University Hospital, Prague, Czech Republic. Electronic address: kasparova.dita@seznam.cz.
authors.forename: Dita
authors.initials: D
authors.lastname: Kasparova
authors.affiliation: Department of Preventive Cardiology, Institute for Clinical and Experimental Medicine, Prague, Czech Republic. Electronic address: vead@ikem.cz.
authors.forename: Vera
authors.initials: V
authors.lastname: Adamkova
authors.affiliation: Department of Surgery, Penn Transplant Institute, Perelman School of Medicine, University of PA, Philadelphia, USA. Electronic address: mvholmes@gmail.com.
authors.forename: Michael V
authors.initials: MV
authors.lastname: Holmes
authors.affiliation: Department of Obstetrics and Gynecology, 1st Faculty of Medicine and General University Hospital, Prague, Czech Republic. Electronic address: tfait@seznam.cz.
authors.forename: Tomas
authors.initials: T
authors.lastname: Fait
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics*; D018153:Czech Republic; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006579:Heterozygote; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D011110:Polymorphism, Genetic; D011247:Pregnancy; D044465:White People / Q000235:genetics
chemical_list: C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
keywords: MTHFR; Polymorphism; Predisposition; Pregnancy loss; Spontaneous abortion