title: Variations in the UDP-glucuronosyltransferase 1A1 gene for the development of unconjugated hyperbilirubinemia in Taiwanese.
abstract: BACKGROUND
  Results of several studies have indicated that the variation of c.-3279T>G in the UDP-glucuronosyltransferase (UGT)1A1 gene could be a further factor for the development of hyperbilirubinemia. However, this variant has not been reported in the Taiwanese population.
  
  
  METHODS
  PCR-restriction fragment length polymorphism was utilized to determine variants at nucleotides -3279 (*60), -53 (*28) and 211 (*6) in the UGT1A1 gene for 178 Taiwanese hyperbilirubinemic patients and 200 controls.
  
  
  RESULTS
  A total of ten and nine diplotypes were observed in the hyperbilirubinemic patients and controls, respectively. Subjects possessing diplotypes of compound haplotypes (*60/*28, *60/*6, *1/*60 plus *1/*28 plus *1/*6); *60/*60; *60/*60 plus 1/*28 and *6/*6 were significantly related to hyperbilirubinemia development, with an odds ratio of 7.83-188.00 (p = 0.012 approximately <0.001). A subgroup possessing diplotypes of *60/*60 plus *28/*28 were only found in hyperbilirubinemic patients, not in the controls. Bilirubin concentration amongst these patients carrying a diplotype of *60/*60 plus *28/*28 (mean [SD]: 39.2 [10.77] micromol/l) was significantly higher than that in the diplotype subgroups of *60/*60 plus *1/*28 (30.4 [4.10] micromol/l) and *6/*6 (30.3 [3.08] micromol/l) (p = 0.046 and 0.034, respectively).
  
  
  CONCLUSIONS
  The c.-3279T>G variant is a further factor for the development of hyperbilirubinemia. Our results also demonstrate that possessing the *60/*60 plus *28/*28 diplotype in the UGT1A1 gene is a determinant of relatively higher bilirubin values amongst hyperbilirubinemic patients.
authors.affiliation: Department of Laboratory Medicine, Cathay General Hospital, No 280, Section 4, Jen-Ai Road, Taipei 106, Taiwan.
authors.forename: Yang-Yang
authors.initials: YY
authors.lastname: Huang
authors.forename: May-Jen
authors.initials: MJ
authors.lastname: Huang
authors.forename: Sieng-Sien
authors.initials: SS
authors.lastname: Yang
authors.forename: Hsiu-Chen
authors.initials: HC
authors.lastname: Teng
authors.forename: Ching-Shan
authors.initials: CS
authors.lastname: Huang
mesh_terms: D000328:Adult; D001663:Bilirubin / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation / Q000235:genetics*; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D006932:Hyperbilirubinemia / Q000201:enzymology* / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics; D013624:Taiwan / Q000453:epidemiology; D000099148:UGT1A1 Enzyme
chemical_list: D001663:Bilirubin; D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme