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1 August 2007 Sex-Specific Effect of the Thermolabile C677T Mutation in the Methylenetetrahydrofolate Reductase Gene on Angiographically Assessed Coronary Artery Disease in Brazilians
Domingos L. S. Rios, Lorenza O. D'onofrio, Heitor G. Carvalho, Ademar Santos-Filho, Bernardo Galvão-Castro
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Abstract

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.

Domingos L. S. Rios, Lorenza O. D'onofrio, Heitor G. Carvalho, Ademar Santos-Filho, and Bernardo Galvão-Castro "Sex-Specific Effect of the Thermolabile C677T Mutation in the Methylenetetrahydrofolate Reductase Gene on Angiographically Assessed Coronary Artery Disease in Brazilians," Human Biology 79(4), 453-461, (1 August 2007). https://doi.org/10.1353/hub.2007.0053
Received: 7 September 2006; Published: 1 August 2007
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KEYWORDS
BRAZILIANS
CORONARY ARTERY DISEASE
HOMOCYSTEINE LEVEL
METHYLENETETRAHYDROFOLATE REDUCTASE
MTHFR POLYMORPHISM
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