Sex-specific effect of the thermolabile C677T mutation in the methylenetetrahydrofolate reductase gene on angiographically assessed coronary artery disease in Brazilians
Autor: | Heitor G. Carvalho, Ademar Santos-Filho, Domingos L.S. Rios, Bernardo Galvão-Castro, Lorenza O. D'Onofrio |
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Rok vydání: | 2007 |
Předmět: |
Adult
Male medicine.medical_specialty Hyperhomocysteinemia Homocysteine Genotype Hemodynamics Black People Coronary Artery Disease Coronary Angiography Gastroenterology White People Coronary artery disease chemistry.chemical_compound Sex Factors Risk Factors Internal medicine Genetics medicine Humans Thermolabile Allele frequency Genetics (clinical) Ecology Evolution Behavior and Systematics Methylenetetrahydrofolate Reductase (NADPH2) Aged biology business.industry Odds ratio Middle Aged medicine.disease Surgery chemistry Methylenetetrahydrofolate reductase Case-Control Studies Mutation biology.protein Female business Brazil |
Zdroj: | Human biology. 79(4) |
ISSN: | 0018-7143 |
Popis: | Hyperhomocysteinemia is associated with increased coronary artery disease (CAD) risk. Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the metabolism of homocysteine and presents a common mutation (C677T) that leads to a thermolabile enzyme, mild hyperhomocysteinemia, and increased CAD risk. The C677T MTHFR mutation was studied in 772 subjects (480 Caucasian Brazilians and 292 African Brazilians) who underwent coronary angiography at the hemodynamic center of the Santa Izabel Hospital in Salvador, Bahia State, Brazil. The 677T allele frequency was increased in Caucasian Brazilians (28.1%) compared to the frequency observed in African Brazilians (18.3%; p < 0.001). In Caucasian Brazilians the frequency of the 677T homozygous genotype was increased in CAD cases (10.4%) compared to control subjects (1.4%; p = 0.014) in males but not in females. In African Brazilians the mutation was not associated with CAD in either sex. The multivariate logistic regression analysis of all the samples shows that the 677T homozygous interaction with sex was a significant CAD predictor, independent of other classical risk factors and ethnic group. The odds ratio associated with male 677T homozygotes was increased 9.2-fold (p = 0.021) compared to the 677C carriers. The present study suggests that the C677T MTHFR mutation is associated with increased CAD risk in a sex-dependent manner in Brazilians. |
Databáze: | OpenAIRE |
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