Utilize este identificador para referenciar este registo: http://hdl.handle.net/10198/6783
Título: Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects
Autor: Rodrigues, Carina
Vieira, Emília
Santos, Rosário
Carvalho, João
Santos-Silva, Alice
Costa, Elísio
Bronze-da-Rocha, Elsa
Palavras-chave: UGT1A1 variants
Gilbert syndrome
Bilirubin levels
Polymorphism phenotype prediction
Data: 2012
Editora: M.A. Lichtman
Citação: Rodrigues, Carina; Vieira, Emília; Santos, Rosário; Carvalho, João; Santos-Silva, Alice; Costa, Elísio; Bronze-da Rocha, Elsa (2012) - Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects. Blood Cells, Molecules, and Diseases. ISSN 1079-9796. 48:3, p. 166-172
Resumo: A significant different allelic distribution, in Gilbert patients and in controls, was found for two promoter polymorphisms. Among patients, 82.2% were homozygous and 17.8% heterozygous for the c.− 41_ − 40dupTA allele; in control group, 9.9% were homozygous and 43.5% heterozygous for this promoter variant, while 46.6% (n = 75) presented the [A(TA)6TAA]. For the T>G transition at c.− 3279 promoter region, in patients, 86.7% were homozygous and 13.3% heterozygous; in control group, 33.5% were homozygous for the wild type allele, 44.1% were heterozygous and 22.4% homozygous for the mutated allele. The two polymorphisms were in Hardy–Weinberg equilibrium in both groups. Sequencing of UGT1A1 coding region identified nine novel variants, five in patients and four in controls. In silico analysis of these amino acids replacements predicted four of them as benign and three as damaging. In conclusion, we demonstrated that total bilirubin levels are mainly determined by the TA duplication in the TATA-box promoter and by the c.− 3279T>G variant. Alterations in the UGT1A1 coding region seem to be associated with increased bilirubin levels, and, therefore, with Gilbert syndrome.
Peer review: yes
URI: http://hdl.handle.net/10198/6783
DOI: 10.1016/j.bcmd.2012.01.004
ISSN: 1079-9796
Aparece nas colecções:ESSa - Artigos em Revistas Indexados à WoS/Scopus

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