Sensitivity of genetic testing for Gilbert syndrome in Polish population
Journal Title: Gastroenterologia Polska - Year 2007, Vol 14, Issue 1
Abstract
Introduction: Gilbert syndrome is recognized as mild unconjugated hyperbilirubinemia. It is associated with the A (TA)„TAA insertion polymor-phism in the promoter region of the gene coding for the enzyme UDP-glucuronosyltransferase 1. Methods for genotyping of this polymorphism are available. Aim of study: The aim of the study was to estimate the sensitivityof the genetic test for Gilbert syndrome in Polish population. Material and methods: Blood samples from 62 patients with Gilbert syndrome were collected. Ali patients had increased serum concentration of total bilirubin, normal level of alanine and aspartatam in otranferase, no anemia, no anti-hepatitis C virus antibodies, no hepatitis B surface antigen (HBsAg) and no other signs or manifestations of liver or hematological diseases. 78 anonymous samples were collected randomly from general population as a control group. In patients with Gilbert syndrome and in randomly collected samples the A (TA)„TAA polymorphism in the promoter of the UDP-glucuronosyltransferase 1 gene (WGn/l:Z) was genotyped. Results: 90.3% of patients with Gilbert syndrome had the 7/7 genotype, 9.7% had the 6/7 genotype and none had the 6/6 genotype. In general population the frequency of the 7/7 genotype was 16.7%. The sensitivity of the genetic test for Gilbert syndrome for the 7/7 genotype was 90%. ConclusionsiThe 7/7 genotype in the promoter of the UGT1A1 gene is strongly associated with Gilbert syndrome in Polish population. It may be used as a genetic test to confirm diagnosis of Gilbert syndrome. However, because of its 90% sensitivity other potential causes of hyperbilirubinemia have to be excluded.
Authors and Affiliations
Dariusz Moczulski, Małgorzata Trombik, Barbara Gawlik, Sylwia Górczyńska-Kosiorz, Władysław Grzeszczak
Keywords
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