[MTHFR genetic variability on coronary artery disease development].

Patrícia Matos Biselli, Alexandre Rodrigues Guerzoni, Eny Maria Goloni-Bertollo, Moacir Fernandes de Godoy, Juliana Aparecida Barcelos Abou-Chahla, Erika Cristina Pavarino-Bertelli
Author Information
  1. Patrícia Matos Biselli: Faculdade de Medicina de São José do Rio Preto, São José do Rio Preto, SP.

Abstract

OBJECTIVE: Increased homocysteine (Hcy) concentration is considered a risk factor for coronary artery disease (CAD). Genetic alterations of the metylenetetrahydrofolate reductase (MTHFR) enzyme could reduce its thermolability and alter the Hcy metabolism, contributing to development of atherosclerotic lesions. Objective of this study was to investigate the relation between MTHFR C677T and A1298C polymorphisms and presence, extension, and severity of CAD.
METHODS: One hundred seventy-five patients with CAD confirmed by angiography, and 108 individuals without CAD (control group) were evaluated. MTHFR C677T polymorphism was investigated by polymerase chain reaction (PCR) followed by enzyme digestion. The genotyping of the MTHFR A1298C polymorphism was performed by PCR allele-specific method.
RESULTS: Frequency of the altered allele MTHFR 677C was 0.38 in the CAD group and 0.37 in the control group. Regarding the polymorphic allele MTHFR 1298C, frequency was 0.22 and 0.27, respectively. The genotype distribution MTHFR C677T and A1298C did not differ regarding number of affected vessels (P > 0.05). Also, relation between MTHFR C677T polymorphism and degree of arterial obstruction was not observed (P > 0.05), as well as the MTHFR A1298C polymorphism (P > 0.05).
CONCLUSION: Results did not show association between MTHFR A1298C and MTHFR C677T polymorphisms and presence, extension or severity of CAD.

MeSH Term

Alleles
Case-Control Studies
Chi-Square Distribution
Coronary Artery Disease
Female
Gene Frequency
Humans
Male
Methylenetetrahydrofolate Reductase (NADPH2)
Middle Aged
Polymorphism, Genetic

Chemicals

Methylenetetrahydrofolate Reductase (NADPH2)

Word Cloud

Created with Highcharts 10.0.0MTHFR0CADC677TA1298CpolymorphismgroupP>05HcycoronaryarterydiseaseenzymerelationpolymorphismspresenceextensionseveritycontrolPCRalleleOBJECTIVE:IncreasedhomocysteineconcentrationconsideredriskfactorGeneticalterationsmetylenetetrahydrofolatereductasereducethermolabilityaltermetabolismcontributingdevelopmentatheroscleroticlesionsObjectivestudyinvestigateMETHODS:Onehundredseventy-fivepatientsconfirmedangiography108individualswithoutevaluatedinvestigatedpolymerasechainreactionfolloweddigestiongenotypingperformedallele-specificmethodRESULTS:Frequencyaltered677C3837Regardingpolymorphic1298Cfrequency2227respectivelygenotypedistributiondifferregardingnumberaffectedvesselsAlsodegreearterialobstructionobservedwellCONCLUSION:Resultsshowassociation[MTHFRgeneticvariabilitydevelopment]

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