title: Haplotypes in the UGT1A1 gene and their role as genetic determinants of bilirubin concentration in healthy German volunteers.
abstract: BACKGROUND
  Genetic variations of UDP-glucuronyltransferase 1A1 (UGT1A1) influence the concentration of serum bilirubin. We investigated the association of four common polymorphisms including UGT1A1-53(TA)(n), and common haplotypes of the UGT1A1 gene with bilirubin levels in 218 Caucasian volunteers.
  
  
  METHODS
  Total bilirubin was measured in serum of 218 healthy Caucasian volunteers. Genotyping of four genetic variants was performed: UGT1A1-53(TA)(6/7), UGT1A1c.-3279T>G, UGT1A1c.-3156G>A, and UGT1A1c.211G>A. The association between polymorphisms/haplotypes and bilirubin levels were determined.
  
  
  RESULTS
  Minor allele frequencies were 0.36 for UGT1A1-53(TA)(7), 0.47 for c.-3279G, 0.33 for c.-3156A and 0.006 for c.211A. The three promoter polymorphisms were in close linkage disequilibrium. Common haplotypes were: -53(TA)(6)/c.-3279T/c.211G (frequency 0.530), -53(TA)(7)/c.-3279G/c.211G (frequency 0.365), and -53(TA)(6)/c.-3279G/c.211G (frequency 0.099). Male sex, UGT1A1-53(TA)(6/7) and the c.-3279GG variant were significantly associated with higher bilirubin concentrations.
  
  
  CONCLUSIONS
  Two UGT1A1 promoter polymorphisms (-53(TA)(6/7) and c.-3279T>G) and a common haplotype of the UGT1A1 gene are associated with serum bilirubin concentrations in Caucasians.
authors.affiliation: Institute of Clinical Chemistry, Medical Faculty University Magdeburg, Leipziger Strasse 44, Magdeburg, Germany.
authors.forename: Katrin
authors.initials: K
authors.lastname: Borucki
authors.forename: Cornelia
authors.initials: C
authors.lastname: Weikert
authors.forename: Eva
authors.initials: E
authors.lastname: Fisher
authors.forename: Sibylle
authors.initials: S
authors.lastname: Jakubiczka
authors.forename: Claus
authors.initials: C
authors.lastname: Luley
authors.forename: Sabine
authors.initials: S
authors.lastname: Westphal
authors.forename: Jutta
authors.initials: J
authors.lastname: Dierkes
mesh_terms: D000328:Adult; D001483:Base Sequence; D001663:Bilirubin / Q000097:blood*; D017931:DNA Primers; D005260:Female; D005787:Gene Frequency; D005858:Germany; D014453:Glucuronosyltransferase / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D044465:White People; D000099148:UGT1A1 Enzyme
chemical_list: D001663:Bilirubin; D017931:DNA Primers; D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme