Polymorphisms in genes MTHFR, MTR and MTRR are not risk factors for cleft lip/palate in South Brazil
Braz. j. med. biol. res
;
40(6): 787-791, June 2007. tab
Artigo
em Inglês
| LILACS
| ID: lil-452680
ABSTRACT
Non-syndromic cleft lip and palate (CL/P) occurs due to interaction between genetic and environmental factors. Abnormalities in homocysteine metabolism may play a role in its etiology due to polymorphisms in genes involved in this pathway. Because of the involvement of MTHFR, MTR and MTRR genes with folate metabolism and the evidence that maternal use of folic acid in early pregnancy reduces the risk for CL/P, we evaluated the influence of their polymorphisms on the etiology of CL/P through a case-control study. The analyses involved 114 non-syndromic phenotypically white children with clefts (case) and 110 mothers, and 100 non-affected (control) children and their mothers. The polymorphisms 677C>T of MTHFR, 2756A>G of MTR, and 66A>G of MTRR genes were analyzed by PCR-RFLP. Allelic frequencies did not differ from other studies conducted on white populations for MTHFR 677T allele (0.35) and for MTR 2756G allele (0.17), but MTRR 66G allele frequency (0.35) was lower than observed elsewhere. The genotypic distribution of the 677C>T polymorphisms under study did not show significant differences between CL/P patients, their mothers and controls. These results suggest that the alterations of folate metabolism related to these polymorphisms are not involved in clefting in the population under study.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Polimorfismo Genético
/
Fenda Labial
/
Fissura Palatina
/
Ferredoxina-NADP Redutase
Tipo de estudo:
Estudo de etiologia
/
Estudo observacional
/
Fatores de risco
Limite:
Adolescente
/
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Lactente
/
Masculino
/
Recém-Nascido
/
Gravidez
País/Região como assunto:
América do Sul
/
Brasil
Idioma:
Inglês
Revista:
Braz. j. med. biol. res
Assunto da revista:
Biologia
/
Medicina
Ano de publicação:
2007
Tipo de documento:
Artigo
País de afiliação:
Brasil
Instituição/País de afiliação:
Hospital de Clínicas de Porto Alegre/BR
/
Universidade Federal do Rio Grande do Sul/BR
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