title: Coexistence of the 677C>T and 1298A>C MTHFR polymorphisms and its significance in the population of Polish women.
abstract: OBJECTIVE
  The aim of the study was to evaluate the frequency of the 677C>T and 1298A>C polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene, as well as the coexistence of both these genetic variants in women from the Polish population.
  
  
  METHODS
  A total of 662 women from the Polish population were enrolled in the study group. The frequency of the investigated genotypes of the 677C>T and 1298A>C polymorphisms of the MTHFR gene was analyzed with the use of PCR/RFLP methods.
  
  
  RESULTS
  The frequency of the 677CC, 677CT and 677TT genotypes in the studied population of women was 50.60%, 39.88% and 9.52%, respectively As to the 1298AA, 1298AC and 1298CC genotypes, the obtained results were as follows: 42.75%, 47.88% and 9.37%, respectively (Tables II and III). Simultaneous analysis revealed the most frequent coexistence of 677CC/1298AC (28.85%), 677CT/1298AA (20.85%) and 677CT/1298AC (19.03%) genotypes. The coexistence of 677CC/1298AA (12.39%), 677CC/1298CC (9.37%) and 677TT/1298AA (9.51%) genotypes was observed less frequently In the studied population of Polish women, the coexistence of 677CT/1298CC, 677TT/1298AC and 677TT/1298CC genotypes has been not observed.
  
  
  CONCLUSIONS
  The frequency and coexistence of genotypes of the 677C>T and 1298A>C MTHFR gene polymorphisms in the studied population of Polish women is similar to other North-European populations. Women carriers of the mutated variants of both, 677C>T and 1298A>C polymorphisms of the MTHFR gene should receive special perinatal care in order to prevent fetal defects and thrombosis-related complications during pregnancy It is vital to emphasize the significance of proper education of folate supplementation, especially in pregnant patients and women of reproductive age.
authors.forename: Hubert
authors.initials: H
authors.lastname: Wolski
authors.forename: Maria
authors.initials: M
authors.lastname: Kocięcka
authors.forename: Aleksandra E
authors.initials: AE
authors.lastname: Mrozikiewicz
authors.forename: Magdalena
authors.initials: M
authors.lastname: Barlik
authors.forename: Grażyna
authors.initials: G
authors.lastname: Kurzawińska
mesh_terms: D005260:Female; D005492:Folic Acid / Q000008:administration & dosage; D020022:Genetic Predisposition to Disease; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D018743:Perinatal Care / Q000379:methods; D011044:Poland; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length / Q000235:genetics*; D011247:Pregnancy; D011248:Pregnancy Complications / Q000517:prevention & control; D044465:White People / Q000235:genetics*
chemical_list: D005492:Folic Acid; D042965:Methylenetetrahydrofolate Reductase (NADPH2)