Association of folate metabolism gene polymorphisms and pulmonary embolism: A case-control study of West-Siberian population.

INTRODUCTION: 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.

MATERIALS AND 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.