FREE NEJM E-TOC    HOME   |   SUBSCRIBE   |   CURRENT ISSUE   |   PAST ISSUES   |   COLLECTIONS   |   Search Term  Advanced Search

Sign in | Get NEJM's E-Mail Table of Contents — Free | Subscribe

Previous Volume 333:1171-1175 November 2, 1995 Number 18 Next

	Full Text PDF Letters Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited PubMed Citation

ABSTRACT

Background People with Gilbert's syndrome have mild, chronic unconjugated hyperbilirubinemia in the absence of liver disease or overt hemolysis. Hepatic glucuronidating activity, essential for efficient biliary excretion of bilirubin, is reduced to about 30 percent of normal.

Methods We sequenced the coding and promoter regions of the gene for bilirubin UDP-glucuronosyltransferase 1 (bilirubin/uridine diphosphoglucuronate-glucuronosyltransferase 1) — the only enzyme that contributes substantially to bilirubin glucuronidation — in 10 unrelated patients with Gilbert's syndrome, 16 members of a kindred with a history of Crigler–Najjar syndrome type II, and 55 normal subjects.

Results The coding region of the gene for the enzyme was normal in the 10 patients with Gilbert's syndrome. These patients were homozygous for two extra bases (TA) in the TATAA element of the 5' promoter region of the gene (A(TA)₇TAA rather than the normal A(TA)₆TAA). The presence of the longer TATAA element resulted in the reduced expression of a reporter gene, encoding firefly luciferase, in a human hepatoma cell line. The frequency of the abnormal allele was 40 percent among the normal subjects. The 3 men in the control group who were homozygous for the longer TATAA element had significantly higher serum bilirubin levels than the other 52 normal subjects (P = 0.009). Among the kindred with a history of Crigler–Najjar syndrome type II, only the six heterozygous carriers who had a longer TATAA element on the structurally normal allele had mild hyperbilirubinemia, characteristic of Gilbert's syndrome.

Conclusions Reduced expression of bilirubin UDP-glucuronosyltransferase 1 due to an abnormality in the promoter region of the gene for this enzyme appears to be necessary for Gilbert's syndrome but not sufficient for the complete manifestation of the syndrome.

Source Information

From the Department of Gastroenterology and Hepatology, Academic Medical Center, Amsterdam, the Netherlands (P.J.B., C.B., A.B., G.N.J.T., R.P.J.O.E.); Marion Bessin Liver Research Center, Division of Gastroenterology and Liver Diseases, Departments of Medicine and Molecular Genetics, Albert Einstein College of Medicine, Bronx, N.Y. (J.R.C., S.G., N.R.C.); the Department of Clinical Genetics, Erasmus University, Rotterdam, the Netherlands (B.A.O., D.L.); and the Department of Gastroenterology and Hepatology, Academic Hospital Groningen, Groningen, the Netherlands (P.L.M.J.).

Address reprint requests to Dr. Bosma at FO-116, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, the Netherlands.

Full Text of this Article

Related Letters:

The Genetic Basis of Gilbert's Syndrome
Mathew P., Bosma P. J., Oostra B. A.
Extract | Full Text  
N Engl J Med 1996; 334:802-803, Mar 21, 1996. Correspondence

This article has been cited by other articles:

• Lin, Z., Fontaine, J., Watchko, J. F. (2008). Coexpression of Gene Polymorphisms Involved in Bilirubin Production and Metabolism. Pediatrics 122: e156-e162 [Abstract] [Full Text]  
• Rantner, B., Kollerits, B., Anderwald-Stadler, M., Klein-Weigel, P., Gruber, I., Gehringer, A., Haak, M., Schnapka-Kopf, M., Fraedrich, G., Kronenberg, F. (2008). Association between the UGT1A1 TA-Repeat Polymorphism and Bilirubin Concentration in Patients with Intermittent Claudication: Results from the CAVASIC Study. Clin. Chem. 54: 851-857 [Abstract] [Full Text]  
• Nguyen, N., Bonzo, J. A., Chen, S., Chouinard, S., Kelner, M. J., Hardiman, G., Belanger, A., Tukey, R. H. (2008). Disruption of the Ugt1 Locus in Mice Resembles Human Crigler-Najjar Type I Disease. J. Biol. Chem. 283: 7901-7911 [Abstract] [Full Text]  
• Lankisch, T. O., Schulz, C., Zwingers, T., Erichsen, T. J., Manns, M. P., Heinemann, V., Strassburg, C. P. (2008). Gilbert's Syndrome and Irinotecan Toxicity: Combination with UDP-Glucuronosyltransferase 1A7 Variants Increases Risk. Cancer Epidemiol. Biomarkers Prev. 17: 695-701 [Abstract] [Full Text]  
• Perlstein, T. S., Pande, R. L., Beckman, J. A., Creager, M. A. (2008). Serum Total Bilirubin Level and Prevalent Lower-Extremity Peripheral Arterial Disease: National Health and Nutrition Examination Survey (NHANES) 1999 to 2004. Arterioscler. Thromb. Vasc. Bio. 28: 166-172 [Abstract] [Full Text]  
• Zhang, D., Zhang, D., Cui, D., Gambardella, J., Ma, L., Barros, A., Wang, L., Fu, Y., Rahematpura, S., Nielsen, J., Donegan, M., Zhang, H., Humphreys, W. G. (2007). Characterization of the UDP Glucuronosyltransferase Activity of Human Liver Microsomes Genotyped for the UGT1A1*28 Polymorphism. Drug Metab. Dispos. 35: 2270-2280 [Abstract] [Full Text]  
• Guo, Y., Lu, P., Farrell, E., Zhang, X., Weller, P., Monshouwer, M., Wang, J., Liao, G., Zhang, Z., Hu, S., Allard, J., Shafer, S., Usuka, J., Peltz, G. (2007). In silico and in vitro pharmacogenetic analysis in mice. Proc. Natl. Acad. Sci. USA 104: 17735-17740 [Abstract] [Full Text]  
• Bomgaars, L. R., Bernstein, M., Krailo, M., Kadota, R., Das, S., Chen, Z., Adamson, P. C., Blaney, S. M. (2007). Phase II Trial of Irinotecan in Children With Refractory Solid Tumors: A Children's Oncology Group Study. JCO 25: 4622-4627 [Abstract] [Full Text]  
• Hong, A. L., Huo, D., Kim, H.-J., Niu, Q., Fackenthal, D. L., Cummings, S. A., John, E. M., West, D. W., Whittemore, A. S., Das, S., Olopade, O. I. (2007). UDP-Glucuronosyltransferase 1A1 Gene Polymorphisms and Total Bilirubin Levels in an Ethnically Diverse Cohort of Women. Drug Metab. Dispos. 35: 1254-1261 [Abstract] [Full Text]  
• Daly, T. M., Dumaual, C. M., Miao, X., Farmen, M. W., Njau, R. K., Fu, D.-J., Bauer, N. L., Close, S., Watanabe, N., Bruckner, C., Hardenbol, P., Hockett, R. D. (2007). Multiplex Assay for Comprehensive Genotyping of Genes Involved in Drug Metabolism, Excretion, and Transport. Clin. Chem. 53: 1222-1230 [Abstract] [Full Text]  
• Stewart, C. F., Panetta, J. C., O'Shaughnessy, M. A., Throm, S. L., Fraga, C. H., Owens, T., Liu, T., Billups, C., Rodriguez-Galindo, C., Gajjar, A., Furman, W. L., McGregor, L. M. (2007). UGT1A1 Promoter Genotype Correlates With SN-38 Pharmacokinetics, but Not Severe Toxicity in Patients Receiving Low-Dose Irinotecan. JCO 25: 2594-2600 [Abstract] [Full Text]  
• Cote, J.-F., Kirzin, S., Kramar, A., Mosnier, J.-F., Diebold, M.-D., Soubeyran, I., Thirouard, A.-S., Selves, J., Laurent-Puig, P., Ychou, M. (2007). UGT1A1 Polymorphism Can Predict Hematologic Toxicity in Patients Treated with Irinotecan. Clin. Cancer Res. 13: 3269-3275 [Abstract] [Full Text]  
• Wang, X., Tomso, D. J., Chorley, B. N., Cho, H.-Y., Cheung, V. G., Kleeberger, S. R., Bell, D. A. (2007). Identification of polymorphic antioxidant response elements in the human genome. Hum Mol Genet 16: 1188-1200 [Abstract] [Full Text]  
• Kishi, S., Cheng, C., French, D., Pei, D., Das, S., Cook, E. H., Hijiya, N., Rizzari, C., Rosner, G. L., Frudakis, T., Pui, C.-H., Evans, W. E., Relling, M. V. (2007). Ancestry and pharmacogenetics of antileukemic drug toxicity. Blood 109: 4151-4157 [Abstract] [Full Text]  
• Chang, J.-L., Bigler, J., Schwarz, Y., Li, S. S., Li, L., King, I. B., Potter, J. D., Lampe, J. W. (2007). UGT1A1 Polymorphism Is Associated with Serum Bilirubin Concentrations in a Randomized, Controlled, Fruit and Vegetable Feeding Trial. J. Nutr. 137: 890-897 [Abstract] [Full Text]  
• Immenschuh, S., Shan, Y., Kroll, H., Santoso, S., Wossmann, W., Bein, G., Bonkovsky, H. L. (2007). Marked Hyperbilirubinemia Associated With the Heme Oxygenase-1 Gene Promoter Microsatellite Polymorphism in a Boy With Autoimmune Hemolytic Anemia. Pediatrics 119: e764-e767 [Abstract] [Full Text]  
• Muslu, N., Turhan, A. B., Eskandari, G., Atici, A., Ozturk, O. G., Kul, S., Atik, U. (2007). The Frequency of UDP-Glucuronosyltransferase 1A1 Promoter Region (TA)7 Polymorphism in Newborns and it's Relation with Jaundice. J Trop Pediatr 53: 64-68 [Abstract] [Full Text]  
• Wong, R. J., Stevenson, D. K., Ahlfors, C. E., Vreman, H. J. (2007). Neonatal Jaundice: Bilirubin Physiology and Clinical Chemistry. NeoReviews 8: e58-e67 [Abstract] [Full Text]  
• D'Apolito, M., Marrone, A., Servedio, V., Vajro, P., De Falco, L., Iolascon, A. (2007). Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia. haematol 92: 133-134 [Abstract] [Full Text]  
• Gajdos, V., Petit, F. M., Perret, C., Mollet-Boudjemline, A., Colin, P., Capel, L., Nicaud, V., Evans, A., Arveiler, D., Parisot, F., Francoual, J., Genin, E., Cambien, F., Labrune, P. (2006). Further Evidence That the UGT1A1*28 Allele Is Not Associated with Coronary Heart Disease: The ECTIM Study. Clin. Chem. 52: 2313-2314 [Full Text]  
• Smellie, W S A, Forth, J, Ryder, S, Galloway, M J, Wood, A C, Watson, I D (2006). Best practice in primary care pathology: review 5. J. Clin. Pathol. 59: 1229-1237 [Abstract] [Full Text]  
• Hahn, K. K., Wolff, J. J., Kolesar, J. M. (2006). Pharmacogenetics and irinotecan therapy. Am J Health Syst Pharm 63: 2211-2217 [Abstract] [Full Text]  
• HASEGAWA, Y., ANDO, Y., ANDO, M., HASHIMOTO, N., IMAIZUMI, K., SHIMOKATA, K. (2006). Pharmacogenetic Approach for Cancer Treatment-Tailored Medicine in Practice. Ann. N. Y. Acad. Sci. 1086: 223-232 [Abstract] [Full Text]  
• Malfatti, M. A., Dingley, K. H., Nowell-Kadlubar, S., Ubick, E. A., Mulakken, N., Nelson, D., Lang, N. P., Felton, J. S., Turteltaub, K. W. (2006). The Urinary Metabolite Profile of the Dietary Carcinogen 2-Amino-1-Methyl-6-Phenylimidazo[4,5-b]Pyridine Is Predictive of Colon DNA Adducts after a Low-Dose Exposure in Humans. Cancer Res. 66: 10541-10547 [Abstract] [Full Text]  
• Lin, J.-P., O'Donnell, C. J., Schwaiger, J. P., Cupples, L. A., Lingenhel, A., Hunt, S. C., Yang, S., Kronenberg, F. (2006). Association Between the UGT1A1*28 Allele, Bilirubin Levels, and Coronary Heart Disease in the Framingham Heart Study. Circulation 114: 1476-1481 [Abstract] [Full Text]  
• O'Dwyer, P. J., Catalano, R. B. (2006). Uridine Diphosphate Glucuronosyltransferase (UGT) 1A1 and Irinotecan: Practical Pharmacogenomics Arrives in Cancer Therapy. JCO 24: 4534-4538 [Full Text]  
• Felton, J. S., Malfatti, M. A. (2006). What Do Diet-Induced Changes in Phase I and II Enzymes Tell Us about Prevention from Exposure to Heterocyclic Amines?. J. Nutr. 136: 2683S-2684S [Full Text]  
• Kroetz, D. L. (2006). Role for Drug Transporters Beyond Tumor Resistance: Hepatic Functional Imaging and Genotyping of Multidrug Resistance Transporters for the Prediction of Irinotecan Toxicity. JCO 24: 4225-4227 [Full Text]  
• Chen, Y., Chen, S., Li, X., Wang, X., Zeng, S. (2006). Genetic Variants of Human UGT1A3: Functional Characterization and Frequency Distribution in a Chinese Han Population. Drug Metab. Dispos. 34: 1462-1467 [Abstract] [Full Text]  
• Gardiner, S. J., Begg, E. J. (2006). Pharmacogenetics, Drug-Metabolizing Enzymes, and Clinical Practice. Pharmacol. Rev. 58: 521-590 [Abstract] [Full Text]  
• de Jong, F. A., Kehrer, D. F. S., Mathijssen, R. H. J., Creemers, G.-J., de Bruijn, P., van Schaik, R. H. N., Planting, A. S. Th., van der Gaast, A., Eskens, F. A. L. M., Janssen, J. Th. P., Ruit, J. B., Verweij, J., Sparreboom, A., de Jonge, M. J. A. (2006). Prophylaxis of Irinotecan-Induced Diarrhea with Neomycin and Potential Role for UGT1A1*28 Genotype Screening: A Double-Blind, Randomized, Placebo-Controlled Study. The Oncologist 11: 944-954 [Abstract] [Full Text]  
• Weinshilboum, R., Wang, L. (2006). Pharmacogenomics: Bench to Bedside. Focus 4: 431- [Abstract] [Full Text]  
• Park, J., Chen, L., Ratnashinge, L., Sellers, T. A., Tanner, J.-P., Lee, J.-H., Dossett, N., Lang, N., Kadlubar, F. F., Ambrosone, C. B., Zachariah, B., Heysek, R. V., Patterson, S., Pow-Sang, J. (2006). Deletion Polymorphism of UDP-Glucuronosyltransferase 2B17 and Risk of Prostate Cancer in African American and Caucasian Men.. Cancer Epidemiol. Biomarkers Prev. 15: 1473-1478 [Abstract] [Full Text]  
• Girard, H., Villeneuve, L., Court, M. H., Fortier, L.-C., Caron, P., Hao, Q., von Moltke, L. L., Greenblatt, D. J., Guillemette, C. (2006). THE NOVEL UGT1A9 INTRONIC I399 POLYMORPHISM APPEARS AS A PREDICTOR OF 7-ETHYL-10-HYDROXYCAMPTOTHECIN GLUCURONIDATION LEVELS IN THE LIVER. Drug Metab. Dispos. 34: 1220-1228 [Abstract] [Full Text]  
• Kantarjian, H., Giles, F., Wunderle, L., Bhalla, K., O'Brien, S., Wassmann, B., Tanaka, C., Manley, P., Rae, P., Mietlowski, W., Bochinski, K., Hochhaus, A., Griffin, J. D., Hoelzer, D., Albitar, M., Dugan, M., Cortes, J., Alland, L., Ottmann, O. G. (2006). Nilotinib in imatinib-resistant CML and Philadelphia chromosome-positive ALL.. NEJM 354: 2542-2551 [Abstract] [Full Text]  
• Han, J.-Y., Lim, H.-S., Shin, E. S., Yoo, Y.-K., Park, Y. H., Lee, J.-E., Jang, I.-J., Ho Lee, D., Soo Lee, J. (2006). Comprehensive Analysis of UGT1A Polymorphisms Predictive for Pharmacokinetics and Treatment Outcome in Patients With Non-Small-Cell Lung Cancer Treated With Irinotecan and Cisplatin. JCO 24: 2237-2244 [Abstract] [Full Text]  
• Ratain, M. J. (2006). From bedside to bench to bedside to clinical practice: an odyssey with irinotecan.. Clin. Cancer Res. 12: 1658-1660 [Full Text]  
• Harraway, J. R., George, P. M. (2005). Use of Fully Denaturing HPLC for UGT1A1 Genotyping in Gilbert Syndrome. Clin. Chem. 51: 2183-2185 [Full Text]  
• Costa, E., Vieira, E., dos Santos, R. (2005). 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: 2204-2206 [Full Text]  
• French, D., Wilkinson, M. R., Yang, W., de Chaisemartin, L., Cook, E. H., Das, S., Ratain, M. J., Evans, W. E., Downing, J. R., Pui, C.-H., Relling, M. V. (2005). Global gene expression as a function of germline genetic variation. Hum Mol Genet 14: 1621-1629 [Abstract] [Full Text]  
• Wright, M. A., Morrison, G., Lin, P., Leonard, G. D., Nguyen, D., Guo, X., Szabo, E., Hopkins, J. L., Leguizamo, J. P., Harold, N., Fioravanti, S., Schuler, B., Monahan, B. P., Saif, M. W., Quinn, M. G., Pang, J., Grem, J. L. (2005). A Phase I Pharmacologic and Pharmacogenetic Trial of Sequential 24-Hour Infusion of Irinotecan Followed by Leucovorin and a 48-Hour Infusion of Fluorouracil in Adult Patients with Solid Tumors. Clin. Cancer Res. 11: 4144-4150 [Abstract] [Full Text]  
• Watchko, J. F. (2005). Vigintiphobia Revisited. Pediatrics 115: 1747-1753 [Abstract] [Full Text]  
• Peterson, S., Bigler, J., Horner, N. K., Potter, J. D., Lampe, J. W. (2005). Cruciferae Interact with the UGT1A1*28 Polymorphism to Determine Serum Bilirubin Levels in Humans. J. Nutr. 135: 1051-1055 [Abstract] [Full Text]  
• Lankisch, T. O., Vogel, A., Eilermann, S., Fiebeler, A., Krone, B., Barut, A., Manns, M. P., Strassburg, C. P. (2005). Identification and Characterization of a Functional TATA Box Polymorphism of the UDP Glucuronosyltransferase 1A7 Gene. Mol. Pharmacol. 67: 1732-1739 [Abstract] [Full Text]  
• Zukunft, J., Lang, T., Richter, T., Hirsch-Ernst, K. I., Nussler, A. K., Klein, K., Schwab, M., Eichelbaum, M., Zanger, U. M. (2005). A Natural CYP2B6 TATA Box Polymorphism (-82T-> C) Leading to Enhanced Transcription and Relocation of the Transcriptional Start Site. Mol. Pharmacol. 67: 1772-1782 [Abstract] [Full Text]  
• Kaniwa, N., Kurose, K., Jinno, H., Tanaka-Kagawa, T., Saito, Y., Saeki, M., Sawada, J.-i., Tohkin, M., Hasegawa, R. (2005). 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: 458-465 [Abstract] [Full Text]  
• Giannini, E. G., Testa, R., Savarino, V. (2005). Liver enzyme alteration: a guide for clinicians. CMAJ 172: 367-379 [Abstract] [Full Text]  
• Lee, W., Lockhart, A. C., Kim, R. B., Rothenberg, M. L. (2005). Cancer Pharmacogenomics: Powerful Tools in Cancer Chemotherapy and Drug Development. The Oncologist 10: 104-111 [Abstract] [Full Text]  
• Haverfield, E. V., McKenzie, C. A., Forrester, T., Bouzekri, N., Harding, R., Serjeant, G., Walker, T., Peto, T. E. A., Ward, R., Weatherall, D. J. (2005). UGT1A1 variation and gallstone formation in sickle cell disease. Blood 105: 968-972 [Abstract] [Full Text]  
• Basu, A., Chaudhuri, P., Majumder, P. P. (2005). Identification of polymorphic motifs using probabilistic search algorithms. Genome Res 15: 67-77 [Abstract] [Full Text]  
• van der Logt, E.M.J., Bergevoet, S.M., Roelofs, H.M.J., van Hooijdonk, Z., te Morsche, R.H.M., Wobbes, T., de Kok, J.B., Nagengast, F.M., Peters, W.H.M. (2004). Genetic polymorphisms in UDP-glucuronosyltransferases and glutathione S-transferases and colorectal cancer risk. Carcinogenesis 25: 2407-2415 [Abstract] [Full Text]  
• Rouits, E., Boisdron-Celle, M., Dumont, A., Guerin, O., Morel, A., Gamelin, E. (2004). Relevance of Different UGT1A1 Polymorphisms in Irinotecan-Induced Toxicity: A Molecular and Clinical Study of 75 Patients. Clin. Cancer Res. 10: 5151-5159 [Abstract] [Full Text]  
• Sedlak, T. W., Snyder, S. H. (2004). Bilirubin Benefits: Cellular Protection by a Biliverdin Reductase Antioxidant Cycle. Pediatrics 113: 1776-1782 [Full Text]  
• McLeod, H. L., Watters, J. W. (2004). Irinotecan Pharmacogenetics: Is It Time to Intervene?. JCO 22: 1356-1359 [Full Text]  
• Innocenti, F., Undevia, S. D., Iyer, L., Xian Chen, P., Das, S., Kocherginsky, M., Karrison, T., Janisch, L., Ramirez, J., Rudin, C. M., Vokes, E. E., Ratain, M. J. (2004). Genetic Variants in the UDP-glucuronosyltransferase 1A1 Gene Predict the Risk of Severe Neutropenia of Irinotecan. JCO 22: 1382-1388 [Abstract] [Full Text]  
• Wells, P. G., Mackenzie, P. I., Roy Chowdhury, J., Guillemette, C., Gregory, P. A., Ishii, Y., Hansen, A. J., Kessler, F. K., Kim, P. M., Roy Chowdhury, N., Ritter, J. K. (2004). GLUCURONIDATION AND THE UDP-GLUCURONOSYLTRANSFERASES IN HEALTH AND DISEASE. Drug Metab. Dispos. 32: 281-290 [Abstract] [Full Text]  
• Duguay, Y., McGrath, M., Lepine, J., Gagne, J.-F., Hankinson, S. E., Colditz, G. A., Hunter, D. J., Plante, M., Tetu, B., Belanger, A., Guillemette, C., De Vivo, I. (2004). The Functional UGT1A1 Promoter Polymorphism Decreases Endometrial Cancer Risk. Cancer Res. 64: 1202-1207 [Abstract] [Full Text]  
• Fang, J.-L., Lazarus, P. (2004). Correlation between the UDP-Glucuronosyltransferase (UGT1A1) TATAA Box Polymorphism and Carcinogen Detoxification Phenotype: Significantly Decreased Glucuronidating Activity against Benzo(a)pyrene-7,8-dihydrodiol(-) in Liver Microsomes from Subjects with the UGT1A1*28 Variant. Cancer Epidemiol. Biomarkers Prev. 13: 102-109 [Abstract] [Full Text]  
• Jinno, H., Saeki, M., Saito, Y., Tanaka-Kagawa, T., Hanioka, N., Sai, K., Kaniwa, N., Ando, M., Shirao, K., Minami, H., Ohtsu, A., Yoshida, T., Saijo, N., Ozawa, S., Sawada, J.-I. (2003). Functional Characterization of Human UDP-Glucuronosyltransferase 1A9 Variant, D256N, Found in Japanese Cancer Patients. J. Pharmacol. Exp. Ther. 306: 688-693 [Abstract] [Full Text]  
• Mathijssen, R. H. J., Marsh, S., Karlsson, M. O., Xie, R., Baker, S. D., Verweij, J., Sparreboom, A., McLeod, H. L. (2003). Irinotecan Pathway Genotype Analysis to Predict Pharmacokinetics. Clin. Cancer Res. 9: 3246-3253 [Abstract] [Full Text]  
• Bosma, P. J., van der Meer, I. M., Bakker, C. T., Hofman, A., Paul-Abrahamse, M., Witteman, J. C. (2003). UGT1A1*28 Allele and Coronary Heart Disease: The Rotterdam Study. Clin. Chem. 49: 1180-1181 [Full Text]  
• Murata, M., Warren, E. H., Riddell, S. R. (2003). A Human Minor Histocompatibility Antigen Resulting from Differential Expression due to a Gene Deletion. J. Exp. Med. 197: 1279-1289 [Abstract] [Full Text]  
• Watanabe, Y., Nakajima, M., Ohashi, N., Kume, T., Yokoi, T. (2003). Glucuronidation of Etoposide in Human Liver Microsomes Is Specifically Catalyzed by UDP-Glucuronosyltransferase 1A1. Drug Metab. Dispos. 31: 589-595 [Abstract] [Full Text]  
• Iyer, L. V., Ho, M. N., Shinn, W. M., Bradford, W. W., Tanga, M. J., Nath, S. S., Green, C. E. (2003). Glucuronidation of 1'-Hydroxyestragole (1'-HE) by Human UDP-Glucuronosyltransferases UGT2B7 and UGT1A9. Toxicol Sci 73: 36-43 [Abstract] [Full Text]  
• Kaplan, M., Hammerman, C., Maisels, M. J. (2003). Bilirubin Genetics for the Nongeneticist: Hereditary Defects of Neonatal Bilirubin Conjugation. Pediatrics 111: 886-893 [Full Text]  
• Weinshilboum, R. (2003). Inheritance and Drug Response. NEJM 348: 529-537 [Full Text]  
• Jinno, H., Tanaka-Kagawa, T., Hanioka, N., Saeki, M., Ishida, S., Nishimura, T., Ando, M., Saito, Y., Ozawa, S., Sawada, J.-i. (2003). Glucuronidation of 7-Ethyl-10-hydroxycamptothecin (SN-38), an Active Metabolite of Irinotecan (CPT-11), by Human UGT1A1 Variants, G71R, P229Q, and Y486D. Drug Metab. Dispos. 31: 108-113 [Abstract] [Full Text]  
• Tukey, R. H., Strassburg, C. P., Mackenzie, P. I. (2002). Pharmacogenomics of Human UDP-Glucuronosyltransferases and Irinotecan Toxicity. Mol. Pharmacol. 62: 446-450 [Full Text]  
• Garcia-Carbonero, R., Supko, J. G. (2002). Current Perspectives on the Clinical Experience, Pharmacology, and Continued Development of the Camptothecins. Clin. Cancer Res. 8: 641-661 [Abstract] [Full Text]  
• Zucker, S. D., Qin, X., Rouster, S. D., Yu, F., Green, R. M., Keshavan, P., Feinberg, J., Sherman, K. E. (2001). Mechanism of indinavir-induced hyperbilirubinemia. Proc. Natl. Acad. Sci. USA 10.1073/pnas.231140698v1 [Abstract] [Full Text]  
• Stevenson, D. K., Fanaroff, A. A., Maisels, M. J., Young, B. W. Y., Wong, R. J., Vreman, H. J., MacMahon, J. R., Yeung, C. Y., Seidman, D. S., Gale, R., Oh, W., Bhutani, V. K., Johnson, L. H., Kaplan, M., Hammerman, C., Nakamura, H. (2001). Prediction of Hyperbilirubinemia in Near-Term and Term Infants. Pediatrics 108: 31-39 [Abstract] [Full Text]  
• Guillemette, C., De Vivo, I., Hankinson, S. E., Haiman, C. A., Spiegelman, D., Housman, D. E., Hunter, D. J. (2001). Association of Genetic Polymorphisms in UGT1A1 with Breast Cancer and Plasma Hormone Levels. Cancer Epidemiol. Biomarkers Prev. 10: 711-714 [Abstract] [Full Text]  
• Aguilar-Martinez, P, Bismuth, M, Picot, M C, Thelcide, C, Pageaux, G-P, Blanc, F, Blanc, P, Schved, J-F, Larrey, D (2001). Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause?. Gut 48: 836-842 [Abstract] [Full Text]  
• Innocenti, F., Iyer, L., Ratain, M. J. (2001). Pharmacogenetics of Anticancer Agents: Lessons from Amonafide and Irinotecan. Drug Metab. Dispos. 29: 596-600 [Abstract] [Full Text]  
• Ewesuedo, R. B., Iyer, L., Das, S., Koenig, A., Mani, S., Vogelzang, N. J., Schilsky, R. L., Brenckman, W., Ratain, M. J. (2001). Phase I Clinical and Pharmacogenetic Study of Weekly TAS-103 in Patients With Advanced Cancer. JCO 19: 2084-2090 [Abstract] [Full Text]  
• KADAKOL, A., SAPPAL, B. S, GHOSH, S. S, LOWENHEIM, M., CHOWDHURY, A., CHOWDHURY, S., SANTRA, A., ARIAS, I. M, CHOWDHURY, J. R., CHOWDHURY, N. R. (2001). Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus. J. Med. Genet. 38: 244-249 [Full Text]  
• Tukey, R. H., Strassburg, C. P. (2001). Genetic Multiplicity of the Human UDP-Glucuronosyltransferases and Regulation in the Gastrointestinal Tract. Mol. Pharmacol. 59: 405-414 [Abstract] [Full Text]  
• Dennery, P. A., Seidman, D. S., Stevenson, D. K. (2001). Neonatal Hyperbilirubinemia. NEJM 344: 581-590 [Full Text]  
• Ando, Y., Saka, H., Ando, M., Sawa, T., Muro, K., Ueoka, H., Yokoyama, A., Saitoh, S., Shimokata, K., Hasegawa, Y. (2000). Polymorphisms of UDP-Glucuronosyltransferase Gene and Irinotecan Toxicity: A Pharmacogenetic Analysis. Cancer Res. 60: 6921-6926 [Abstract] [Full Text]  
• von Ahsen, N., Oellerich, M., Schutz, E. (2000). DNA Base Bulge vs Unmatched End Formation in Probe-based Diagnostic Insertion/Deletion Genotyping: Genotyping the UGT1A1 (TA)n Polymorphism by Real-Time Fluorescence PCR. Clin. Chem. 46: 1939-1945 [Abstract] [Full Text]  
• Dufour, D. R., Lott, J. A., Nolte, F. S., Gretch, D. R., Koff, R. S., Seeff, L. B. (2000). Diagnosis and Monitoring of Hepatic Injury. I. Performance Characteristics of Laboratory Tests. Clin. Chem. 46: 2027-2049 [Abstract] [Full Text]  
• Maruo, Y., Nishizawa, K., Sato, H., Sawa, H., Shimada, M. (2000). Prolonged Unconjugated Hyperbilirubinemia Associated With Breast Milk and Mutations of the Bilirubin Uridine Diphosphate- Glucuronosyltransferase Gene. Pediatrics 106: 59e-59 [Abstract] [Full Text]  
• IOLASCON, A., MELONI, A., COPPOLA, B., ROSATELLI, M. C. (2000). Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene. J. Med. Genet. 37: 712-713 [Full Text]  
• Bhutani, V. K., Gourley, G. R., Adler, S., Kreamer, B., Dalin, C., Johnson, L. H. (2000). Noninvasive Measurement of Total Serum Bilirubin in a Multiracial Predischarge Newborn Population to Assess the Risk of Severe Hyperbilirubinemia. Pediatrics 106: 17e-17 [Abstract] [Full Text]  
• Raftogianis, R., Creveling, C., Weinshilboum, R., Weisz, J. (2000). Chapter 6: Estrogen Metabolism by Conjugation. J Natl Cancer Inst Monogr 2000: 113-124 [Abstract] [Full Text]  
• Lampe, J. W., Bigler, J., Bush, A. C., Potter, J. D. (2000). Prevalence of Polymorphisms in the Human UDP-Glucuronosyltransferase 2B Family: UGT2B4(D458E), UGT2B7(H268Y), and UGT2B15(D85Y). Cancer Epidemiol. Biomarkers Prev. 9: 329-333 [Abstract] [Full Text]  
• Marziliano, N., Pelo, E., Minuti, B., Passerini, I., Torricelli, F., Da Prato, L. (2000). Melting Temperature Assay for a UGT1A Gene Variant in Gilbert Syndrome. Clin. Chem. 46: 423-425 [Full Text]  
• Guillemette, C., Millikan, R. C., Newman, B., Housman, D. E. (2000). Genetic Polymorphisms in Uridine Diphospho-Glucuronosyltransferase 1A1 and Association with Breast Cancer among African Americans. Cancer Res. 60: 950-956 [Abstract] [Full Text]  
• Kaplan, M., Hammerman, C. (2000). Glucose-6-Phosphate Dehydrogenase Deficiency: A Worldwide Potential Cause of Severe Neonatal Hyperbilirubinemia. NeoReviews 1: e32-39 [Full Text]  
• Pirulli, D., Giordano, M., Puzzer, D., Crovella, S., Rigato, I., Tiribelli, C., Momigliano-Richiardi, P., Amoroso, A. (2000). Rapid Method for Detection of Extra (TA) in the Promoter of the Bilirubin-UDP-Glucuronosyl Transferase 1 Gene Associated with Gilbert Syndrome. Clin. Chem. 46: 129-131 [Full Text]  
• Trioche, P., Chalas, J., Francoual, J., Capel, L., Lindenbaum, A., Odièvre, M., Labrune, P. (1999). Jaundice with hypertrophic pyloric stenosis as an early manifestation of Gilbert syndrome. Arch. Dis. Child. 81: 301-303 [Abstract] [Full Text]  
• del Giudice, E. M., Perrotta, S., Nobili, B., Specchia, C., d'Urzo, G., Iolascon, A. (1999). Coinheritance of Gilbert Syndrome Increases the Risk for Developing Gallstones in Patients With Hereditary Spherocytosis. Blood 94: 2259-2262 [Abstract] [Full Text]  
• Cheng, L., Guan, Y., Li, L., Legerski, R. J., Einspahr, J., Bangert, J., Alberts, D. S., Wei, Q. (1999). Expression in Normal Human Tissues of Five Nucleotide Excision Repair Genes Measured Simultaneously by Multiplex Reverse Transcription-Polymerase Chain Reaction. Cancer Epidemiol. Biomarkers Prev. 8: 801-807 [Abstract] [Full Text]  
• Bernard, P., Goudonnet, H., Artur, Y., Desvergne, B., Wahli, W. (1999). Activation of the Mouse TATA-less and Human TATA-Containing UDP-Glucuronosyltransferase 1A1 Promoters by Hepatocyte Nuclear Factor 1. Mol. Pharmacol. 56: 526-536 [Abstract] [Full Text]  
• WAKU, S., TAKESHIMA, Y., NAKAMURA, H., NISHIO, H., SUMINO, K. (1999). A variant TATA box in the bilirubin UDP-glucuronosyltransferase 1 gene promoter does not contribute to neonatal jaundice in the Japanese population. Arch. Dis. Child. Fetal Neonatal Ed. 81: 159F-159 [Full Text]