C677T polymorphism of the MTHFR gene and variant hemoglobins: a study in newborns from Salvador, Bahia, Brazil

• Published in: Cadernos de saúde pública Vol. 20; no. 2; pp. 529 - 533
• Main Authors: Couto, Fábio David, Adorno, Elisângela Vitória, Menezes, Joelma Figueiredo, Moura Neto, José Pereira, Rêgo, Marco Antônio Vasconcelos, Reis, Mitermayer Galvão dos, Gonçalves, Marilda Souza
• Format: Journal Article
• Language: English
• Published: Brazil Escola Nacional de Saúde Pública Sergio Arouca, Fundação Oswaldo Cruz 01.04.2004; Escola Nacional de Saúde Pública, Fundação Oswaldo Cruz
• Subjects: African Continental Ancestry Group; Anemia, Sickle Cell - ethnology; Anemia, Sickle Cell - genetics; Brazil - epidemiology; Female; Gene Frequency; Hemoglobinopathies; Hemoglobinopathies - ethnology; Hemoglobinopathies - genetics; Hemoglobins - analysis; Hemoglobins - genetics; Homocysteine - blood; Humans; Infant, Newborn; Male; Methylenetetrahydrofolate Reductase (NADPH2) - genetics; Newborns Infant; Polymerase Chain Reaction; Polymorphism; Polymorphism, Genetic - genetics; Polymorphism, Restriction Fragment Length; PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH; Brazil; Hemoglobinopathies; Recém-nascidos; Polimorfismo; Newborns Infant; Hemoglobinopatias; Polymorphism
• ISSN: 0102-311X; 1678-4464; 0102-311X; 1678-4464
• DOI: 10.1590/S0102-311X2004000200021

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.