Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.10/414
Título: Early modification of sickle cell disease clinical course by UDP-glucuronosyltransferase 1A1 gene promoter polymorphism
Autor: Martins, R
Morais, A
Dias, A
Soares, I
Rolão, C
Ducla-Soares, J
Braga, L
Seixas, T
Nunes, B
Olim, G
Romão, L
Lavinha, J
Faustino, P
Palavras-chave: Criança
Anemia falciforme
Talassémia alfa
Sickle cell disease
Data: 2008
Editora: Nature Publishing Group
Citação: J Hum Genet. 2008;53(6):524-8
Resumo: Elevated erythrocyte destruction in sickle cell disease (SCD) results in chronic hyperbilirubinaemia and, in a subset of patients, cholelithiasis occurs. We investigated whether the (TA)n promoter polymorphism in the UDP-glucuronosyltransferase 1A1 gene (UGT1A1) may modify bilirubin metabolism, influencing bilirubinaemia, predisposition to cholelithiasis and subsequent cholecystectomy, in a group of 153 young SCD patients (mean age 12.0 +/- 9.0 years) predominantly of Bantu beta S haplotype. The concomitant effect of alpha thalassaemia was also analysed. Among the several UGT1A1 genotypes found, the most frequent were the (TA)6/(TA)6 (n = 37), (TA)6/(TA)7 (n = 60) and (TA)7/(TA)7 (n = 29). These groups of patients did not significantly differ in age, gender ratio and haemoglobin, foetal haemoglobin and reticulocyte levels. On the other hand, total bilirubin levels were significantly different between groups, with an increased (TA) repeat number being associated with higher bilirubinaemia. Furthermore, both cholelithiasis and cholecystectomy were more frequent in groups with higher (TA) repeat number, although the former association was not statistically significant. None of the mentioned parameters is statistically different within UGT1A1 groups with the presence of alpha thalassaemia. Thus, the UGT1A1 promoter polymorphism may represent an important nonglobin genetic modifier of Bantu SCD patients' clinical manifestations, even at a young age.
Peer review: yes
URI: http://hdl.handle.net/10400.10/414
ISSN: 1434-5161
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