title: C677T polymorphism of the MTHFR gene and variant hemoglobins: a study in newborns from Salvador, Bahia, Brazil.
abstract: The C677T polymorphism in the methylenetetrahydrofolate reductase gene (MTHFR) is associated with an increase in total homocysteine serum levels (tHcy), described as a risk factor for cardiovascular disease. Eight hundred forty-three neonates from two different maternity hospitals, one public and another private, in Salvador, Bahia, Brazil were screened for this polymorphism by PCR and RFLP. The T-allele frequency in the total sample was 0.23, and the prevalence rates of heterozygous and homozygous carriers were 36.2% and 5.3%, respectively. The T-allele frequency differed and the T/T genotype was more prevalent at the private maternity hospital. The hemoglobin (Hb) profile was investigated by HPLC in 763 newborns. The frequency of variant Hb was higher at the public than at the private maternity hospital. The association of the C677T polymorphism and the Hb profile was investigated in 683 newborns, showing a relatively high frequency of variant Hbs and the T allele. These data could provide an important basis for further studies focusing on potential risks of vaso-occlusive events in these individuals.
authors.affiliation: Centro de Pesquisas Gonçalo Moniz, Fundação Oswaldo Cruz, Salvador, Brasil. mari@cpqgm.fiocruz.br
authors.forename: Fábio David
authors.initials: FD
authors.lastname: Couto
authors.forename: Elisângela Vitória
authors.initials: EV
authors.lastname: Adorno
authors.forename: Joelma Figueiredo
authors.initials: JF
authors.lastname: Menezes
authors.forename: José Pereira
authors.initials: JP
authors.lastname: Moura Neto
authors.forename: Marco Antônio Vasconcelos
authors.initials: MA
authors.lastname: Rêgo
authors.forename: Mitermayer Galvão dos
authors.initials: MG
authors.lastname: Reis
authors.forename: Marilda Souza
authors.initials: MS
authors.lastname: Gonçalves
mesh_terms: D000755:Anemia, Sickle Cell / Q000208:ethnology / Q000235:genetics*; D044383:Black People; D001938:Brazil / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency; D006453:Hemoglobinopathies / Q000208:ethnology / Q000235:genetics*; D006454:Hemoglobins / Q000032:analysis / Q000235:genetics*; D006710:Homocysteine / Q000097:blood*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D006454:Hemoglobins; D006710:Homocysteine; D042965:Methylenetetrahydrofolate Reductase (NADPH2)