UGT1A1 variation and gallstone formation in sickle cell disease.

Blood
Eden V HaverfieldD J Weatherall

Abstract

Pigment gallstones are a common clinical complication of sickle cell (SS) disease. Genetic variation in the promoter of uridine diphosphate (UDP)-glucuronosyltransferase 1A1 (UGT1A1) underlies Gilbert syndrome, a chronic form of unconjugated hyperbilirubinemia, and appears to be a risk factor for gallstone formation. We investigated the association between UGT1A1 (TA)(n) genotype, hyperbilirubinemia, and gallstones in a sample of Jamaicans with SS disease. Subjects were from the Jamaican Sickle Cell Cohort Study (cohort sample, n = 209) and the Sickle Cell Clinic at the University of the West Indies, Kingston, Jamaica (clinic sample, n = 357). The UGT1A1 (TA)(n) promoter region was sequenced in 541 SS disease subjects and 111 healthy controls (control sample). Indirect bilirubin levels for (TA)(7)/(TA)(7) and (TA)(7)/(TA)(8) genotypes were elevated compared with (TA)(6)/(TA)(6) (clinic sample, P < 10(-5); cohort sample, P < 10(-3)). The (TA)(7)/(TA)(7) genotype was also associated with symptomatic presentation and gallstones in the clinic sample (odds ratio [OR] = 11.3; P = 7.0 x 10(-4)) but not in the younger cohort sample. These unexpected findings indicate that the temporal evolution of symptomatic gallstones may involve fac...Continue Reading

References

Jan 1, 1986·Cold Spring Harbor Symposia on Quantitative Biology·K MullisH Erlich
Nov 2, 1995·The New England Journal of Medicine·P J BosmaR P Oude Elferink
Sep 1, 1993·Blood Reviews·G R Serjeant, B E Serjeant
Oct 29, 1997·Proceedings of the National Academy of Sciences of the United States of America·M KaplanE Beutler
May 15, 1998·The Journal of Pediatrics·J D BancroftG R Gourley
Jul 8, 1998·Proceedings of the National Academy of Sciences of the United States of America·E BeutlerA Demina
Oct 26, 1999·Journal of Gastroenterology and Hepatology·B Burchell, R Hume
Dec 14, 1999·European Journal of Pediatrics·R GalanelloA Cao
Jan 15, 2000·The Journal of Pediatrics·T M WalkerG R Serjeant
Feb 15, 2002·British Journal of Haematology·R GalanelloA Cao
Apr 5, 2003·The Journal of Laboratory and Clinical Medicine·Matthew M HeeneyRussell E Ware
Dec 12, 1959·Nature·K BETKEI SCHLICHT

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Citations

Jul 10, 2013·Annual Review of Genomics and Human Genetics·David J Weatherall
Nov 19, 2010·Expert Review of Hematology·Kleber Yotsumoto Fertrin, Fernando Ferreira Costa
May 10, 2005·British Journal of Haematology·M H Steinberg
Aug 19, 2007·Liver International : Official Journal of the International Association for the Study of the Liver·Clemens SchafmayerJuergen Tepel
Nov 26, 2005·Clinical and Laboratory Haematology·M W WeatherallG R Serjeant
Apr 16, 2008·British Journal of Haematology·Swee Lay Thein
Dec 22, 2009·Seminars in Fetal & Neonatal Medicine·Jon F Watchko, Zhili Lin
Mar 1, 2011·Clinics and Research in Hepatology and Gastroenterology·Karel Johannes Van Erpecum
Sep 17, 2016·Pharmacogenomics·Carolina Céspedes-GarroEva M Peñas-LLedó
Jun 3, 2016·American Journal of Human Biology : the Official Journal of the Human Biology Council·Christine SimonnetMathieu Nacher
Dec 11, 2007·Current Problems in Pediatric and Adolescent Health Care·Lakshmanan KrishnamurtiJakub Tolar
Mar 25, 2009·Genetic Testing and Molecular Biomarkers·Aspasia TsezouSofia Kitsiou-Tzeli
Aug 31, 2006·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Clemens SchafmayerJochen Hampe
Apr 15, 2008·Current Opinion in Gastroenterology·Aksana Höblinger, Frank Lammert
Nov 30, 2005·The Pharmacogenomics Journal·M L MaitlandA Di Rienzo
Mar 29, 2006·Current Opinion in Hematology·Martin H Steinberg, Adeboye H Adewoye
Apr 23, 2013·American Journal of Hematology·Vivien A SheehanUNKNOWN BABY HUG Investigators
May 2, 2007·Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B·Chih-Kang HuangQiulu Pan
May 4, 2020·The Journal of Antimicrobial Chemotherapy·Parul PatelWilliam R Spreen
Dec 14, 2011·European Journal of Pediatrics·Andrew FretzayasThemistocles Karpathios
Jan 27, 2019·British Journal of Haematology·Rachael F GraceWilma Barcellini
Dec 17, 2016·European Journal of Haematology·Philippe JolyPhilippe Connes
Mar 1, 2008·Journal of Hepatology·Frank Lammert, Juan-Francisco Miquel
May 19, 2010·Gastroenterology Clinics of North America·Niels Gerard Venneman, Karel Johannes van Erpecum
Oct 20, 2010·Best Practice & Research. Clinical Gastroenterology·Christian P Strassburg

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