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C677T polymorphism of the MTHFR gene and variant hemoglobins

A study in newborns from Salvador, Bahia, Brazil

Bibliographic Data

ID21057261
AuthorsFábio David Couto (0000-0002-7945-4587, Fundação Oswaldo Cruz), Elisângela Vitória Adorno (Fundação Oswaldo Cruz, Brasil; Universidade Federal da Bahia, Brasil), Joelma Figueiredo Menezes (0000-0003-3978-6576, Fundação Oswaldo Cruz), José Pereira De Moura Neto (0000-0003-2177-7292, Fundação Oswaldo Cruz), Marco Antônio Vasconcelos Rêgo (0000-0001-8206-7353, Universidade Federal da Bahia), Matheus G Reis (0000-0002-3051-9060, Fundação Oswaldo Cruz), Mitermayer Galvão Dos Reis (Fundação Oswaldo Cruz), Marilda de Souza Gonçalves (0000-0003-3000-1437, Universidade Federal da Bahia)
Year2004
Volume20
Issue2
Pages529-533
Publication date2004-04-01
Peer ReviewedYes
Open AccessYes
TypeARTICLE
VenueCadernos de Saude Publica (JOURNAL)
Journal identifiersISSN: 0102-311X • E-ISSN: 1678-4464
PublisherFapUNIFESP (SciELO) (PUBLISHER)
DOI10.1590/s0102-311x2004000200021
PMID15073633
OpenAlexW2015577853
SCIELO_PIDS0102-311X2004000200021
LanguageEN
Citations received1
References cited24

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

Allele · Allele frequency · Biology · Gene · Gene polymorphism · Genotype · Homocysteine · Methylenetetrahydrofolate reductase · Polymorphism (computer science) · Folate and B Vitamins Research · Gastroenterology · Genetics · Internal Medicine · Iron Metabolism and Disorders · Medicine · Pregnancy and preeclampsia studies

  • Sex-Specific Effect of the Thermolabile C677T Mutation in the Methylenetetrahydrofolate Reductase Gene on Angiographically Assessed Coronary Artery Disease in Brazilians

    Domingos Lázaro Souza Rios, Lorenza O D''Onofrio et al.•Human Biology•2007

  • Distribution of abnormal hemoglobins and glucose‐6‐phosphate dehydrogenase variants in 1200 school children of Bahia, Brazil

    Open Access•Elaine S Azevêdo, Auristela F Paes Alves et al.•American Journal of Physical…•1980

Unique citing works1
Citations per year0,05
Citation span2007 - 2007 (1)
Citation velocityhistorical
Highly citedNo

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