The Impact of the UGT1A1*60 Allele on Bilirubin Serum Concentrations

References

• Bosma PJ , SeppenJ , GoldhoornBet al. Bilirubin UDP-glucuronosyltransferase 1 is the only relevant bilirubin glucuronidating isoform in man . J. Biol. Chem.269 ( 27 ), 17960 – 17964 ( 1994 ).
   PubMed Web of Science ®Google Scholar
• Chen Z , SuD , AiLet al. UGT1A1 sequence variants associated with risk of adult hyperbilirubinemia: a quantitative analysis . Gene552 ( 1 ), 32 – 38 ( 2014 ).
   PubMed Web of Science ®Google Scholar
• Monaghan G , RyanM , SeddonR , HumeR , BurchellB . Genetic variation in bilirubin UPD–glucuronosyltransferase gene promoter and Gilbert’s syndrome . Lancet347 ( 9001 ), 578 – 581 ( 1996 ).
   PubMed Web of Science ®Google Scholar
• Akaba K , KimuraT , SasakiAet al. Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate–glucuronosyltransferase gene in Japanese . J. Hum. Genet.44 ( 1 ), 22 – 25 ( 1999 ).
   PubMed Web of Science ®Google Scholar
• Gammal RS , CourtMH , HaidarCEet al. Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for UGT1A1 and atazanavir prescribing . Clin. Pharmacol. Ther.99 ( 4 ), 363 – 369 ( 2016 ).
   PubMed Web of Science ®Google Scholar
• Rodriguez-Novoa S , Martin-CarboneroL , BarreiroPet al. Genetic factors influencing atazanavir plasma concentrations and the risk of severe hyperbilirubinemia . AIDS21 ( 1 ), 41 – 46 ( 2007 ).
   PubMed Web of Science ®Google Scholar
• Vardhanabhuti S , RibaudoHJ , LandovitzRJet al. Screening for UGT1A1 genotype in study A5257 would have markedly reduced premature discontinuation of atazanavir for hyperbilirubinemia . Open Forum Infect. Dis2 ( 3 ), ofv085 ( 2015 ).
   PubMed Web of Science ®Google Scholar
• U.S. Department of Health and Human Services, National Institutes of Health, National Institute of Allergy and Infectious Diseases, Division of AIDS (DAIDS) . Table for grading the severity of adult and pediatric adverse events, Version 2.0 . http://rsc.tech-res.com/Document/safetyandpharmacovigilance/DAIDS_AE_GRADING_TABLE_v2_NOV2014.pdf .
   Google Scholar
• Innocenti F , UndeviaSD , IyerLet al. Genetic variants in the UDP-glucuronosyltransferase 1A1 gene predict the risk of severe neutropenia of irinotecan . J. Clin. Oncol.22 ( 8 ), 1382 – 1388 ( 2004 ).
   PubMed Web of Science ®Google Scholar
• Takano M , YamamotoK , TabataTet al. Impact of UGT1A1 genotype upon toxicities of combination with low-dose irinotecan plus platinum . Asia Pac. J. Clin. Oncol.12 ( 2 ), 115 – 124 ( 2016 ).
   PubMed Web of Science ®Google Scholar
• Han JY , LimHS , ShinESet al. Comprehensive analysis of UGT1A polymorphisms predictive for pharmacokinetics and treatment outcome in patients with non-small-cell lung cancer treated with irinotecan and cisplatin . J. Clin. Oncol.24 ( 15 ), 2237 – 2244 ( 2006 ).
   PubMed Web of Science ®Google Scholar
• Minami H , SaiK , SaekiMet al. Irinotecan pharmacokinetics/pharmacodynamics and UGT1A genetic polymorphisms in Japanese: roles of UGT1A1*6 and *28 . Pharmacogenet. Genomics17 ( 7 ), 497 – 504 ( 2007 ).
   PubMed Web of Science ®Google Scholar
• Xiao XG , XiaS , ZouMet al. The relationship between UGT1A1 gene polymorphism and irinotecan effect on extensive-stage small-cell lung cancer . Onco Targets Ther.8 , 3575 – 3583 ( 2015 ).
   PubMed Web of Science ®Google Scholar
• Goey AK , SissungTM , PeerCJet al. Effects of UGT1A1 genotype on the pharmacokinetics, pharmacodynamics, and toxicities of belinostat administered by 48-hour continuous infusion in patients with cancer . J. Clin. Pharmacol.56 ( 4 ), 461 – 473 ( 2016 ).
   PubMed Web of Science ®Google Scholar
• Sugatani J , YamakawaK , YoshinariKet al. Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia . Biochem. Biophys. Res. Commun.292 ( 2 ), 492 – 497 ( 2002 ).
   PubMed Web of Science ®Google Scholar
• Sai K , SaekiM , SaitoYet al. UGT1A1 haplotypes associated with reduced glucuronidation and increased serum bilirubin in irinotecan-administered Japanese patients with cancer . Clin. Pharmacol. Ther.75 ( 6 ), 501 – 515 ( 2004 ).
   PubMed Web of Science ®Google Scholar
• Kaniwa N , KuroseK , JinnoHet al. Racial variability in haplotype frequencies of UGT1A1 and glucuronidation activity of a novel single nucleotide polymorphism 686C>T (P229L) found in an African–American . Drug Metab. Dispos.33 ( 3 ), 458 – 465 ( 2005 ).
   PubMed Web of Science ®Google Scholar
• UGT Nomenclature Committee . UGT Alleles Nomenclature Home Page . www.ugtalleles.ulaval.ca .
   Google Scholar
• Rodrigues C , VieiraE , SantosRet al. Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects . Blood Cells Mol. Dis.48 ( 3 ), 166 – 172 ( 2012 ).
   PubMed Web of Science ®Google Scholar
• Zhang A , XingQ , QinSet al. Intra-ethnic differences in genetic variants of the UGT–glucuronosyltransferase 1A1 gene in Chinese populations . Pharmacogenomics J.7 ( 5 ), 333 – 338 ( 2007 ).
   PubMed Web of Science ®Google Scholar
• Innocenti F , GrimsleyC , DasSet al. Haplotype structure of the UDP-glucuronosyltransferase 1A1 promoter in different ethnic groups . Pharmacogenetics12 ( 9 ), 725 – 733 ( 2002 ).
   PubMedGoogle Scholar
• Costa E , VieiraE , Dos SantosR . The polymorphism c.-3279T>G in the phenobarbital-responsive enhancer module of the bilirubin UDP-glucuronosyltransferase gene is associated with Gilbert syndrome . Clin. Chem.51 ( 11 ), 2204 – 2206 ( 2005 ).
   PubMed Web of Science ®Google Scholar
• Hoffman JM , HaidarCE , WilkinsonMRet al. PG4KDS: a model for the clinical implementation of pre-emptive pharmacogenetics . Am. J. Med. Genet. C, Semin. Med. Genet.166C ( 1 ), 45 – 55 ( 2014 ).
   PubMed Web of Science ®Google Scholar
• Bearman SI . The syndrome of hepatic veno-occlusive disease after marrow transplantation . Blood85 ( 11 ), 3005 – 3020 ( 1995 ).
   PubMed Web of Science ®Google Scholar
• Hatzimichael E , TuthillM . Hematopoietic stem cell transplantation . Stem Cells Cloning3 , 105 – 117 ( 2010 ).
   PubMedGoogle Scholar
• Nduka N , KazemY , SalehB . Variation in serum electrolytes and enzyme concentrations in patients with sickle cell disease . J. Clin. Pathol.48 ( 7 ), 648 – 651 ( 1995 ).
   PubMed Web of Science ®Google Scholar
• Brown AK , SleeperLA , MillerST , PegelowCH , GillFM , WaclawiwMA . Reference values and hematologic changes from birth to 5 years in patients with sickle cell disease. Cooperative Study of Sickle Cell Disease . Arch. Pediatr. Adolesc. Med.148 ( 8 ), 796 – 804 ( 1994 ).
   PubMedGoogle Scholar
• Huang CS , HuangMJ , LinMS , YangSS , TengHC , TangKS . Genetic factors related to unconjugated hyperbilirubinemia amongst adults . Pharmacogenet. Genomics15 ( 1 ), 43 – 50 ( 2005 ).
   PubMedGoogle Scholar
• Liu H , LiuW , TangX , WangT . Association between G6PD deficiency and hyperbilirubinemia in neonates: a meta-analysis . Pediatr. Hematol. Oncol.32 ( 2 ), 92 – 98 ( 2015 ).
   PubMed Web of Science ®Google Scholar
• Mazza U , SaglioG , CappioFC , CamaschellaC , NerettoG , GalloE . Clinical and haematological data in 254 cases of beta-thalassaemia trait in Italy . Br. J. Haematol.33 ( 1 ), 91 – 99 ( 1976 ).
   PubMed Web of Science ®Google Scholar
• Sissung TM , EnglishBC , VenzonD , FiggWD , DeekenJF . Clinical pharmacology and pharmacogenetics in a genomics era: the DMET platform . Pharmacogenomics11 ( 1 ), 89 – 103 ( 2010 ).
   PubMed Web of Science ®Google Scholar
• Affymetrix DMET Plus Annotation and Allele Translation File v1.20120731 . www.affymetrix.com/estore/browse/level_seven_software_products_only.jsp?productId=131559#1_1 .
   Google Scholar
• Caudle KE , DunnenbergerHM , FreimuthRRet al. Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC) . Genet. Med. doi:10.1038/gim.2016.87 ( 2016 ) ( Epub ahead of print ).
   PubMed Web of Science ®Google Scholar
• Warnes G , GorjancG , LeischF , ManM . Genetics: population genetics. R Package 1.3.8.1 ( 2013 ). https://cran.r-project.org/web/packages/genetics/genetics.pdf .
   Google Scholar
• Huang YY , HuangMJ , YangSS , TengHC , HuangCS . Variations in the UDP-glucuronosyltransferase 1A1 gene for the development of unconjugated hyperbilirubinemia in Taiwanese . Pharmacogenomics9 ( 9 ), 1229 – 1235 ( 2008 ).
   PubMed Web of Science ®Google Scholar
• National Institutes of Health, National Cancer Institute, U.S. Department of Health and Human Services . Common Terminology Criteria for Adverse Events (CTCAE) Version 4.0.03 . http://evs.nci.nih.gov/ftp1/CTCAE/CTCAE_4.03_2010–06–14_QuickReference_5x7.pdf .
   Google Scholar
• Cecchin E , InnocentiF , D’andreaMet al. Predictive role of the UGT1A1, UGT1A7, and UGT1A9 genetic variants and their haplotypes on the outcome of metastatic colorectal cancer patients treated with fluorouracil, leucovorin, and irinotecan . J. Clin. Oncol.27 ( 15 ), 2457 – 2465 ( 2009 ).
   PubMed Web of Science ®Google Scholar
• Carmel R , WongET , WeinerJM , JohnsonCS . Racial differences in serum total bilirubin levels in health and in disease (pernicious anemia) . JAMA253 ( 23 ), 3416 – 3418 ( 1985 ).
   PubMed Web of Science ®Google Scholar
• Manolio TA , BurkeGL , SavagePJet al. Sex- and race-related differences in liver-associated serum chemistry tests in young adults in the CARDIA study . Clin. Chem.38 ( 9 ), 1853 – 1859 ( 1992 ).
   PubMed Web of Science ®Google Scholar