title: Association of UGT1A1 variants and hyperbilirubinemia in breast-fed full-term Chinese infants.
abstract: A retrospective case control study of breast-fed full-term infants was carried out to determine whether variants in Uridine Diphosphate Glucuronosyl Transferase 1A1 (UGT1A1) and Heme Oxygenase-1 (HMOX1) were associated with neonatal hyperbilirubinemia. Eight genetic variants of UGT1A1 and 3 genetic variants of HMOX1 were genotyped in 170 hyperbilirubinemic newborns and 779 controls. Five significant associations with breast-fed hyperbilirubinemia were detected after adjusting for gender, birth season, birth weight, delivery mode, gestational age and False Discovery Rate (FDR) correction: the dominant effect of rs887829 (c-364t) (Odds Ratio (OR): 0.55; 95% Confidence Interval (CI): 0.34-0.89; p = 0.014), the additive effect of (TA)n repeat (OR: 0.59; 95%CI: 0.38-0.91; p = 0.017), the dominant effect of rs4148323 (Gly71Arg, G211A) (OR: 2.02; 95%CI: 1.44-2.85; p = 5.0×10-5), the recessive effect of rs6717546 (g+914a) (OR: 0.30; 95%CI: 0.11-0.83; p = 0.021) and rs6719561 (t+2558c) (OR: 0.38; 95%CI: 0.20-0.75; p = 0.005). Neonates carrying the minor allele of rs887829 (TA)n repeat had significantly lower peak bilirubin than wild types, while the minor allele carriers of rs4148323 had significantly higher peak bilirubin than wild types. No association was found in HMOX1. Our findings added to the understanding of the significance of UGT1A1 in association with neonatal hyperbilirubinemia in East Asian population. Additional studies were required to investigate the mechanisms of the protective effects.
authors.affiliation: Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China.
authors.forename: Youyou
authors.initials: Y
authors.lastname: Zhou
authors.affiliation: Department of Neonatology, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou, China.
authors.forename: San-nan
authors.initials: SN
authors.lastname: Wang
authors.affiliation: Center for Reproduction and Genetics and Suzhou Maternal-Child Medical Center, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou, China.
authors.forename: Hong
authors.initials: H
authors.lastname: Li
authors.affiliation: Department of Neonatology, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou, China.
authors.forename: Weifeng
authors.initials: W
authors.lastname: Zha
authors.affiliation: Department of Neonatology, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou, China.
authors.forename: Xuli
authors.initials: X
authors.lastname: Wang
authors.affiliation: Department of Neonatology, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou, China.
authors.forename: Yuanyuan
authors.initials: Y
authors.lastname: Liu
authors.affiliation: Center for Reproduction and Genetics and Suzhou Maternal-Child Medical Center, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou, China.
authors.forename: Jian
authors.initials: J
authors.lastname: Sun
authors.affiliation: Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China.
authors.forename: Qianqian
authors.initials: Q
authors.lastname: Peng
authors.affiliation: Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China.
authors.forename: Shilin
authors.initials: S
authors.lastname: Li
authors.affiliation: Center for Reproduction and Genetics and Suzhou Maternal-Child Medical Center, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China.
authors.forename: Li
authors.initials: L
authors.lastname: Jin
mesh_terms: D000483:Alleles; D044466:Asian People; D001942:Breast Feeding; D002681:China; D005260:Female; D014453:Glucuronosyltransferase / Q000235:genetics*; D051547:Heme Oxygenase-1 / Q000235:genetics; D006801:Humans; D051556:Hyperbilirubinemia, Neonatal / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011110:Polymorphism, Genetic; D012189:Retrospective Studies; D000099148:UGT1A1 Enzyme
chemical_list: D014453:Glucuronosyltransferase; D051547:Heme Oxygenase-1; D000099148:UGT1A1 Enzyme; C496541:HMOX1 protein, human
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