6533b7dbfe1ef96bd1271488

RESEARCH PRODUCT

Prothrombotic gene variants as risk factors of acute myocardial infarction in young women

Maurizio AvernaDavide NotoPierpaolo Di MiccoFederica ZarrilliSandro QuarantaAngelo B. CefalùGiuseppe CastaldoRossella TomaiuoloMarcello CiaccioChiara BelliaRosanna Di FioreAntonietta Caruso

subject

MaleHomocysteineMyocardial Infarctionlcsh:Medicinegene variantsprothrombotic gene variantsAMIchemistry.chemical_compoundGene FrequencyRisk FactorsgenderMyocardial infarctionMedicine(all)GeneticsYoung AMI Gender AMI Gene variants Mutations Prothrombotic variants Genetic predispositioneducation.field_of_studyprothrombotic variantsbiologyHomozygoteFactor VGeneral MedicineFemaleProthrombinyoung AMIAdultmedicine.medical_specialtyPopulationyoung AMI gender AMI gene variants mutations prothrombotic variants genetic predisposition.Polymorphism Single NucleotideGeneral Biochemistry Genetics and Molecular BiologyInternal medicinemedicineFactor V LeidenGenetic predispositionHumansGenetic Predisposition to Diseasecardiovascular diseaseseducationAllele frequencyAgedBiochemistry Genetics and Molecular Biology(all)business.industryResearchlcsh:RFactor VThrombosismutationsmedicine.diseasechemistryMethylenetetrahydrofolate reductasebiology.proteinbusinessgenetic predisposition

description

Abstract Background Acute myocardial infarction (AMI) in young women represent an extreme phenotype associated with a higher mortality compared with similarly aged men. Prothrombotic gene variants could play a role as risk factors for AMI at young age. Methods We studied Factor V Leiden, FII G20210A, MTHFR C677T and beta-fibrinogen -455G>A variants by real-time PCR in 955 young AMI (362 females) and in 698 AMI (245 females) patients. The data were compared to those obtained in 909 unrelated subjects (458 females) from the general population of the same geographical area (southern Italy). Results In young AMI females, the allelic frequency of either FV Leiden and of FII G20210A was significantly higher versus the general population (O.R.: 3.67 for FV Leiden and O.R.: 3.84 for FII G20210A; p<0.001). Among AMI patients we showed only in males that the allelic frequency of the MTHFR C677T variant was significantly higher as compared to the general population. Such difference was due to a significantly higher frequency in AMI males of the MTHFR C677T variant homozygous genotype (O.R. 3.05). Discussion and conclusion Our data confirm that young AMI in females is a peculiar phenotype with specific risk factors as the increased plasma procoagulant activity of FV and FII. On the contrary, the homozygous state for the 677T MTHFR variant may cause increased levels of homocysteine and/or an altered folate status and thus an increased risk for AMI, particularly in males. The knowledge of such risk factors (that may be easily identified by molecular analysis) may help to improve prevention strategies for acute coronary diseases in specific risk-group subjects.

yearjournalcountryeditionlanguage
2012-11-01Journal of Translational Medicine
https://doi.org/10.1186/1479-5876-10-235