title: UGT1A1 gene mutations and neonatal hyperbilirubinemia in Guangxi Heiyi Zhuang and Han populations.
abstract: BACKGROUND
  Uridine diphosphoglucuronate-glucuronosyltransferase 1A1 (UGT1A1) gene mutation was shown to be responsible for neonatal hyperbilirubinemia. This study aimed to investigate whether UGT1A1 gene mutation is associated with neonatal hyperbilirubinemia in Guangxi Heiyi Zhuang and Han populations.
  
  
  METHODS
  Two hundred and eighteen infants with hyperbilirubinemia (118 Heiyi Zhuang, 100 Han) and 190 control subjects (110 Heiyi Zhuang, 80 Han) were enrolled. Polymerase chain reaction and gene sequencing were used to detect the TATA-box and exon 1 of UGT1A1.
  
  
  RESULTS
  (TA)7 insertion mutation, 211G>A (G71R), 686C>A (P229Q), and 189C>T (D63D) were detected. Logistic regression analysis showed odds ratios (OR) of 2.64 (95% confidence interval (CI) 1.64-4.24; P < 0.001) and 0.69 (95%CI 0.43-1.10; P = 0.115) for neonates who carried UGT1A1 G71R and (TA)7 insertion mutation, respectively. G71R homozygosity increased the odds of dangerous bilirubin levels by a factor 34.23, and G71R heterozygosity only by 2.10.
  
  
  CONCLUSIONS
  We found that UGT1A1 G71R mutation is a risk factor for neonatal hyperbilirubinemia in Guangxi Heiyi Zhuang and Han populations. Meanwhile, the UGT1A1 (TA)7 insertion mutation is not associated with neonatal hyperbilirubinemia in the two ethnic groups.
authors.affiliation: Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Guangxi, China.
authors.forename: Xiao-Jing
authors.initials: XJ
authors.lastname: Wu
authors.affiliation: Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Guangxi, China.
authors.forename: Dan-Ni
authors.initials: DN
authors.lastname: Zhong
authors.affiliation: Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Guangxi, China.
authors.forename: Xiang-Zhi
authors.initials: XZ
authors.lastname: Xie
authors.affiliation: Department of Pediatrics, People's Hospital of Napo, Guangxi, China.
authors.forename: De-Zhi
authors.initials: DZ
authors.lastname: Ye
authors.affiliation: Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Guangxi, China.
authors.forename: Zong-Yan
authors.initials: ZY
authors.lastname: Gao
mesh_terms: D044466:Asian People / Q000235:genetics*; D001663:Bilirubin / Q000097:blood; D015415:Biomarkers / Q000097:blood; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D002681:China; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons; D005260:Female; D056726:Genetic Association Studies; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D014453:Glucuronosyltransferase / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D051556:Hyperbilirubinemia, Neonatal / Q000097:blood / Q000175:diagnosis / Q000201:enzymology / Q000208:ethnology / Q000235:genetics*; D007231:Infant, Newborn; D016015:Logistic Models; D008297:Male; D009154:Mutation; D016017:Odds Ratio; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012307:Risk Factors; D000099148:UGT1A1 Enzyme
chemical_list: D001663:Bilirubin; D015415:Biomarkers; D005819:Genetic Markers; D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme