title: Lack of association between methylenetetrahydrofolate reductase (MTHFR) C677T and ischaemic heart disease (IHD): family-based association study in a Spanish population.
abstract: 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 (chi2 = 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.
authors.affiliation: Unitat d'Antropologia, Universitat de Barcelona, Unitat d'Hemodinàmica, Hospital de la Vall d'Hebron, Spain.
authors.forename: E
authors.initials: E
authors.lastname: González-Pérez
authors.forename: M
authors.initials: M
authors.lastname: Via
authors.forename: A
authors.initials: A
authors.lastname: López-Alomar
authors.forename: E
authors.initials: E
authors.lastname: Esteban
authors.forename: N
authors.initials: N
authors.lastname: Valveny
authors.forename: M
authors.initials: M
authors.lastname: Bao
authors.forename: E
authors.initials: E
authors.lastname: Domingo
authors.forename: P
authors.initials: P
authors.lastname: Moral
mesh_terms: D016009:Chi-Square Distribution; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D017202:Myocardial Ischemia / Q000235:genetics*; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D017354:Point Mutation; D013030:Spain
chemical_list: D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)