title: Association of folate metabolism gene polymorphisms and pulmonary embolism: A case-control study of West-Siberian population.
abstract: BACKGROUND
  Our objective was to investigate the association between gene polymorphisms of folate cycle (MTHFR 677 C>T, MTHFR 1298 A>C, MTR 2756 A>G, and MTRR 66 A>G) and the risk of pulmonary embolism (PE) in a case-control study.
  
  
  METHODS
  177 PE patients (87 women and 90 men) were compared to a healthy control group (461 people, 123 women, 326 men). All of them are residents of Novosibirsk region. SNPs were genotyped by allele-specific PCR.
  
  
  RESULTS
  The age distributions of our male and female patients were found to be significantly different. For men, the distribution has two maxima, whereas for women it has only one maximum, which is between the two. This fact stimulated us to perform a sex-specific analysis. No statistically significant difference has been found between distributions of the three genes in our PE patients and healthy controls. However, it was discovered that the TT genotype of MTHFR: 677 C>T polymorphism in men increases the risk of PE in comparison to controls. In fact, the difference increases in the age group over 45years. Also, AA genotype of MTRR 66 A>G polymorphism in women below 45years decreases the risk of PE. The sex-specific multiple linear regression analysis gave us estimates of the relative PE risk associated with MTHFR 677 C>T, F2: 20210G>A (Prothrombin), and F5: 1691G>A (Leiden) mutations.
authors.affiliation: Novosibirsk Research Institute of Circulation Pathology, Rechkunovskaya str, 15, Novosibirsk, 630055, Russia. Electronic address: nkarmadonova@yandex.ru.
authors.forename: N A
authors.initials: NA
authors.lastname: Karmadonova
authors.affiliation: Novosibirsk Research Institute of Circulation Pathology, Rechkunovskaya str, 15, Novosibirsk, 630055, Russia. Electronic address: shilovaanna77@mail.ru.
authors.forename: A N
authors.initials: AN
authors.lastname: Shilova
authors.affiliation: Novosibirsk Research Institute of Circulation Pathology, Rechkunovskaya str, 15, Novosibirsk, 630055, Russia. Electronic address: v_kozyreva@nricp.ru.
authors.forename: V S
authors.initials: VS
authors.lastname: Kozyreva
authors.affiliation: Novosibirsk Research Institute of Circulation Pathology, Rechkunovskaya str, 15, Novosibirsk, 630055, Russia. Electronic address: a_subbotovskaya@nricp.ru.
authors.forename: A I
authors.initials: AI
authors.lastname: Subbotovskaya
authors.affiliation: Novosibirsk Research Institute of Circulation Pathology, Rechkunovskaya str, 15, Novosibirsk, 630055, Russia. Electronic address: u_klevanets@nricp.ru.
authors.forename: J E
authors.initials: JE
authors.lastname: Klevanets
authors.affiliation: Novosibirsk Research Institute of Circulation Pathology, Rechkunovskaya str, 15, Novosibirsk, 630055, Russia. Electronic address: andreikarpenko@rambler.ru.
authors.forename: A A
authors.initials: AA
authors.lastname: Karpenko
mesh_terms: D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase / Q000235:genetics*; D000328:Adult; D000368:Aged; D000483:Alleles; D016022:Case-Control Studies; D005260:Female; D005287:Ferredoxin-NADP Reductase / Q000235:genetics*; D005492:Folic Acid / Q000378:metabolism*; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006710:Homocysteine / Q000097:blood; D006801:Humans; D016014:Linear Models; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011336:Probability; D011655:Pulmonary Embolism / Q000235:genetics*; D012800:Siberia
chemical_list: D006710:Homocysteine; D005492:Folic Acid; C111241:methionine synthase reductase; D005287:Ferredoxin-NADP Reductase; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; C585801:MTR protein, human
keywords: Genetically determined risk factors; MTHFR-1298; MTHFR-677; MTR-2756; MTRR-66; Pulmonary embolism