BHMT gene polymorphisms as risk factors for cleft lip and cleft palate in a Chinese population / 生物医学与环境科学(英文)
Biomedical and Environmental Sciences
;
(12): 89-93, 2011.
Artigo
em Inglês
| WPRIM
| ID: wpr-306886
ABSTRACT
<p><b>OBJECTIVE</b>Convincing evidence suggests a link between increased risk of nonsyndromic cleft lip with or without cleft palate (NSCL/P) and low intake of folic acid by the mother during pregnancy. The present study was designed to explore if genetic variation in the betaine-homocysteine methyltransferase (BHMT) gene contributes to NSCL/P.</p><p><b>METHODS</b>DNA was obtained from 166 individuals with NSCL/P and 285 healthy subjects. Three known single nucleotide polymorphisms (SNPs) present in the BHMT gene (rs651852, rs3797546, and rs3733890) were investigated by real-time PCR-based TaqMan genotyping.</p><p><b>RESULTS</b>Neither allelic nor genotypic association was found between NSCL/P and SNPs rs651852 and rs3733890. SNP rs3797546 did not show allelic association with NSCL/P; however, a higher proportion of NSCL/P patients carry the CC genotype compared with the TT+CT genotype (P=0.020, OR=2.10, 95% CI=1.11-3.95).</p><p><b>CONCLUSION</b>Our study suggests that polymorphism rs3797546 in the BHMT gene may confer genetic risk of NSCL/P in a recessive manner.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Estudos de Casos e Controles
/
China
/
Regulação da Expressão Gênica
/
Fatores de Risco
/
Fenda Labial
/
Fissura Palatina
/
Predisposição Genética para Doença
/
Polimorfismo de Nucleotídeo Único
/
Povo Asiático
/
Betaína-Homocisteína S-Metiltransferase
Tipo de estudo:
Estudo de etiologia
/
Estudo observacional
/
Fatores de risco
Limite:
Humanos
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Biomedical and Environmental Sciences
Ano de publicação:
2011
Tipo de documento:
Artigo
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