IngentaConnect Lack of association between methylenetetrahydrofolate reductase (...

Authors: González-Pérez E.¹; Via M.¹; López-Alomar A.¹; Esteban E.¹; Valveny N.¹; Bao M.¹; Domingo E.²; Moral P.¹

Source: Clinical Genetics, Volume 62, Number 3, September 2002 , pp. 235-239(5)

Abstract:

González-Pérez E, Via M, López-Alomar A, Esteban E, Valveny N, Bao M, Domingo E, Moral P. Lack of association between methylenetetrahydrofolate reductase (MTHFR) C677T and ischaemic heart disease (IHD): family-based association study in a Spanish population.

Clin Genet 2002: 62: 235–239. © Blackwell Munksgaard, 2002

The effect of the C677T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene, traditionally associated with ischaemic heart disease (IHD), was assessed in a Spanish population. The transmission disequilibrium test (TDT) was used to determine a possible association in a sample of 101 trios of IHD patients. The distribution of MTHFR genotypes was similar in the IHD subjects and the parental group; the TT genotype was present in 14.9% of IHD patients, as compared to 15.2% in the parents. The frequency of the T allele was also similar in IHD cases and parents (39.6% vs. 42.4%; p = 0.649). The TDT confirmed that the observed transmission of the T allele did not deviate significantly from the expected one ( khgr ² = 0.743; p > 0.4). Our TDT analysis clearly demonstrates a lack of association between the T allele of the C677T mutation in MTHFR and cardiovascular artery disease, both for the general group and for different risk subgroups (smokers, hypertension, male sex, overweight and type A behaviour pattern) in the Spanish population.

Keywords: methylenetetrahydrofolate reductase (MTHFR); ischaemic heart disease (IHD); homocysteine; mutation; PCR–RFLP; transmission disequilibrium test

Language: English

Document Type: Original article

DOI: 10.1034/j.1399-0004.2002.620309.x

Affiliations: 1: Unitat d prime Antropologia, Universitat de Barcelona, Antropologia, Universitat de Barcelona, "> 2: Unitat d prime Hemodinàmica, Hospital de la Vall d prime Hebron, Barcelona, Spain Hemodinàmica, Hospital de la Vall d prime Hebron, Barcelona, Spain "> *

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