title: Does bilirubin level correspond to interaction of c.-3279T>G and A(TA)7TAA variants in UGT1A1 gene?
abstract: Promoter variants c.-3279T>G and A(TA)7TAA show decreased level of expression of UDP-glucuronosyl transferase 1A1 (UGT1A1) and consequently reduced activity of the enzyme catalyzing glucuronidation of bilirubin in hepatocytes. Thus, coincidental occurence of both variants should lead to increase of hyperbilirubinemia or contribute to its manifestation. In this study, investigation of both variants in 101 patients and 84 controls in a Caucasian population was performed and the results were compared with serum bilirubin levels. Despite high linkage disequilibrium between the loci (D' = 0.91, r(2) = 0.69), we have proven an interaction between the variants increasing the odds ratio for [(TA)7]+c.[-3279T>G] homozygotes to 54.2.
authors.affiliation: Department of Pediatrics, 1st Faculty of Medicine, Charles University in Prague and General University Hospital, Ke Karlovu 2, Prague 2, 12808 Czech Republic. lenka.slachtova@gmail.com
authors.forename: L
authors.initials: L
authors.lastname: Slachtova
authors.forename: D
authors.initials: D
authors.lastname: Kemlink
authors.forename: P
authors.initials: P
authors.lastname: Martasek
authors.forename: P
authors.initials: P
authors.lastname: Kabicek
mesh_terms: D000293:Adolescent; D001663:Bilirubin / Q000097:blood*; D002648:Child; D005787:Gene Frequency; D014453:Glucuronosyltransferase / Q000097:blood* / Q000235:genetics*; D006801:Humans; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D055815:Young Adult; D000099148:UGT1A1 Enzyme
chemical_list: D001663:Bilirubin; D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme