Rastreamento de polimorfsmos no gene HIOMT e associações com os fenótipos circadianos
Carregando...
Data
2013-08-08
Autores
Pereira, Danyella Silva
Koike, Bruna Del Vechio
Ribeiro, Amanda de Oliveira [UNESP]
Umemura, Guilherme Silva
Tufik, Sergio
Neto, Mario Pedrazzoli
Título da Revista
ISSN da Revista
Título de Volume
Editor
Resumo
HIOMT is a gene that encodes hydroxyindole-O-methyltransfe-rase, the final enzyme in the melatonin synthesis pathway. As the timing of melatonin synthesis is different for morning and evening people, it is possible that polymorphisms in genes coding for the enzymes which participate in melatonin synthesis can influence this hormone synthesis and release patterns that may result in different circadian outputs. The aim of this study was to search for polymorphisms in the HIOMT gene and to verify possible associations between genetic variations in this gene and circadian phenotypes in a Brazilian population sample. Among the 44 extreme morning and the 48 extreme evening people, ten polymorphisms were found, being two of them not described so far. Haploview analyses showed linkage disequilibrium between pairs of polymorphisms in the promoter B region. Also, the haplotype AG (rs4446909, rs5989681) is associated with evening preference. The analysis of these data indicates that polymorphisms in the HIOMT gene exhibit a possible trend to influence circadian phenotypes in this Brazilian population sample, possibly affecting the rate and/or level of melatonin synthesis.
Descrição
Palavras-chave
Circadian rhythm, Genetics behavorial, Melatonin, Polymorphism genetic
Como citar
Sleep Science, v. 6, n. 2, p. 66-71, 2013.