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Title: Early modification of sickle cell disease clinical course by UDP-glucuronosyltransferase 1A1 gene promoter polymorphism
Author: Martins, Rute
Morais, Anabela
Dias, Alexandra
Soares, Isabel
Rolão, Cristiana
Ducla-Soares, JL
Braga, Lígia
Seixas, Teresa
Nunes, Baltazar
Olim, Gabriel
Romão, Luísa
Lavinha, João
Faustino, Paula
Keywords: Doenças Genéticas
Determinantes da Saúde e da Doença
Patologias do Glóbulo Vermelho
Sickle Cell Disease
Modifier Genes
Alpha Thalassaemia
Issue Date: 5-Apr-2008
Publisher: Springer Verlag
Citation: J Hum Genet. 2008;53(6):524-8. Epub 2008 Apr 5
Abstract: 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
ISSN: 1434-5161
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Appears in Collections:DEP - Artigos em revistas internacionais

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