PL EN


Preferences help
enabled [disable] Abstract
Number of results
2017 | 64 | 2 | 351-356
Article title

Association between uridin diphosphate glucuronosylotransferase 1A1 (UGT1A1) gene polymorphism and neonatal hyperbilirubinemia

Content
Title variants
Languages of publication
EN
Abstracts
EN
Objective: To assess the prevalence of UGT1A1*28 and UGT1A1*60 polymorphisms of UGT1A1 gene and their association with hyperbilirubinemia. Study design: The study was performed at a single centre - at the Department of Obstetrics of the Medical University of Gdansk in Poland. DNA was isolated from Guthrie cards of 171 infants. Only full term newborns (gestational age 38-42 weeks) were included in the study. Fluorescent molecular probes were used for UGT1A1 promoter variation analysis. The presence of UGT1A1*28 polymorphism was detected with a dual-probe system, and UGT1A1*60 with a SimpleProbe™. Result: Homozygous UGT1A1*28 and UGT1A1*60 genotypes were detected in 14.6% and 20.5% of the newborns, respectively. Homozygous (G/G) genotypes of UGT1A1*60 polymorphism were found in all of the UGT1A1*28 (i.e. (TA)7/(TA)7) homozygotes. More than 80% (55/66) of the children with "wild" type UGT1A1*28 genotype (where no polymorphism was detected) (i.e. (TA)6/(TA)6) carried the "wild" (T/T) genotype of UGT1A1*60 as well. The UGT1A1*28 polymorphism was detected more often among neonates with elevated bilirubin. Hyperbilirubinemia was diagnosed more frequently in boys. Conclusion: Polymorphisms of the UGT1A1 gene frequently co-exist in neonates. The presence of UGT1A1*28 polymorphism and male gender seem to predispose to neonatal hyperbilirubinemia.
Publisher

Year
Volume
64
Issue
2
Pages
351-356
Physical description
Dates
published
2017
received
2016-11-08
revised
2017-01-17
accepted
2017-02-07
(unknown)
2017-04-12
Contributors
  • Department of Biotechnology, Intercollegiate Faculty of Biotechnology, University of Gdansk and Medical University of Gdansk, Gdańsk, Poland
  • Department of Biotechnology, Intercollegiate Faculty of Biotechnology, University of Gdansk and Medical University of Gdansk, Gdańsk, Poland
  • Department of Biotechnology, Intercollegiate Faculty of Biotechnology, University of Gdansk and Medical University of Gdansk, Gdańsk, Poland
  • Department of Obstetrics, Medical University of Gdansk, Gdańsk, Poland
  • Department of Obstetrics, Medical University of Gdansk, Gdańsk, Poland
  • Department of Neonatology, Medical University of Gdansk, Gdańsk, Poland
  • Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition, Medical University of Gdansk, Gdańsk, Poland
  • Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition, Medical University of Gdansk, Gdańsk, Poland
author
  • Department of General and Medical Biochemistry, University of Gdansk, Gdańsk, Poland
  • Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition, Medical University of Gdansk, Gdańsk, Poland
  • Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition, Medical University of Gdansk, Gdańsk, Poland
  • Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition, Medical University of Gdansk, Gdańsk, Poland
  • Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition, Medical University of Gdansk, Gdańsk, Poland
author
  • Faculty of Health Sciences with Subfaculty of Nursing, Medical University of Gdansk, Gdańsk, Poland
References
  • American Academy of Pediatrics Subcommittee on Hyperbilirubinemia (2004) Management of hyperbilirubinemia in the newborn infant 35 or more weeks of gestation. Pediatrics 114: 297-316.
  • Azlin I, Wong FL, Ezham M, Hafiza A, Ainoon O (2011) Prevalence of uridine glucuronosyl transferase 1A1 (UGT1A1) mutations in Malay neonates with severe jaundice. Malays J Pathol 33: 95-100.
  • Babaoglu MO, Yigit S, Aynacioglu AS, Kerb R, Yurdakok M, Bozkurt A (2006) Neonatal jaundice and bilirubin UDP-glucuronosyl transferase 1A1 gene polymorphism in Turkish patients. Basic Clin Pharmacol Toxicol 98: 377-380. doi: 10.1111/j.1742-7843.2006.pto_341.x.
  • Bancroft JD, Kreamer B, Gourley GR (1998) Gilbert syndrome accelerates development of neonatal jaundice. J Pediatr 132: 656-660.
  • Biondi ML, Turri O, Dilillo D, Stival G, Guagnellini E (1999) Contribution of the TATA-box genotype (Gilbert syndrome) to serum bilirubin concentrations in the Italian population. Clin Chem 45: 897-898.
  • Borlak J, Thum T, Landt O, Erb K, Hermann R (2000) Molecular diagnosis of a familial nonhemolytic hyperbilirubinemia (Gilbert's syndrome) in healthy subjects. Hepatology 32: 792-795. doi: 10.1053/jhep.2000.18193.
  • Bosma PJ (2003) Inherited disorders of bilirubin metabolism. J Hepatol 38: 107-117.
  • Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A, Oostra BA, Lindhout D, Tytgat GN, Jansen PL, Oude Elferink RP (1995) The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med 333: 1171-1175. doi: 10.1056/NEJM199511023331802.
  • Celik HT, Günbey C, Unal S, Gümrük F, Yurdakök M (2013) Glucose-6-phosphate dehydrogenase deficiency in neonatal hyperbilirubinaemia: Hacettepe experıence. J Paediatr Child Health 49: 399-402. doi: 10.1111/jpc.12193.
  • Clarke DJ, Moghrabi N, Monaghan G, Cassidy A, Boxer M, Hume R, Burchel B (1997) Genetic defects of the UDP-glucuronosyltransferase-1 (UGT1) gene that cause familial non-haemolytic unconjugated hyperbilirubinaemias. Clin Chim Acta 266: 63-74.
  • 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. doi: 10.1373/clinchem.2005.055681.
  • Dore S, Takahashi M, Ferris CD, Zakhary R, Hester LD, Guastella D, Snyder SH (1999) Bilirubin, formed by activation of heme oxygenase-2, protects neurons against oxidative stress injury. Proc Natl Acad Sci USA 96: 2445-2450.
  • Hale TW, Hartmann PE (2007) Hale & Hartmann's Textbook of Human Lactation. Hale Pub., Amarillo, TX.
  • Hammermann C, Goldstein R, Kaplan M, Eran M, Goldschmidt D, Eidelman AI (1998) Bilirubin in the premature: toxic waste or natural defense? Clin Chem 44: 2551-3255.
  • Huang CS, Chang PF, Huang MJ, Chen ES, Chen WC (2002) Glucose-6-phosphate dehydrogenase deficiency, the UDP-glucuronosyl transferase 1A1 gene, and neonatal hyperbilirubinemia. Gastroenterology 123: 127-133.
  • Kaplan M, Hammerman C, Maisels MJ (2003) Bilirubin genetics for the nongeneticist: hereditary defects of neonatal bilirubin conjugation. Pediatrics 111: 886-893.
  • Laforgia N, Faienza MF, Rinaldi A, D'Amato G, Rinaldi G, Iolascon A (2002) Neonatal hyperbilirubinemia and Gilbert's syndrome. J Perinat Med 30: 166-169. doi: 10.1515/JPM.2002.021].
  • Liu J, Long J, Zhang S, Fang X, Luo Y (2013) Polymorphic variants of SLCO1B1 in neonatal hyperbilirubinemia in China. Ital J Pediatr 39: 49-53. doi: 10.1186/1824-7288-39-49.
  • Maruo Y, D'Addario C, Mori A, Iwai M, Takahashi H, Sato H, Takeuchi Y (2004) Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome. Hum Genet 115: 525-526. doi: 10.1007/s00439-004-1183-x.
  • Maruo Y, Nishizawa K, Sato H, Doida Y, Shimada M (1999) Association of neonatal hyperbilirubinemia with bilirubin UDP-glucuronosyltransferase polymorphism. Pediatrics 103: 1224-1227.
  • Mercke Odeberg J, Andrade J, Holmberg K, Hoglund P, Malmqvist U, Odeberg J (2006) UGT1A polymorphisms in a Swedish cohort and a human diversity panel, and the relation to bilirubin plasma levels in males and females. Eur J Clin Pharmacol 62: 829-837. doi: 10.1007/s00228-006-0166-3.
  • Monaghan G, McLellan A, McGeehan A, Li Volti S, Mollica F, Salemi I, Din Z, Cassidy A, Hume R, Burchell B (1999) Gilbert's syndrome is a contributory factor in prolonged unconjugated hyperbilirubinemia of the newborn. J Pediatr 134: 441-446.
  • Murray RK, Bender DA, Botham KM, Kenelly PJ, Rodwell VW, Weil PA (2012) Harper's Illustrated Biochemistry. McGraw-Hill Medical: Columbus, OH.
  • Okwundu CI, Okoromah CA, Shah PS (2013) Cochrane Review: Prophylactic phototherapy for preventing jaundice in preterm or low birth weight infants. Evid Based Child Health 8: 204-249. doi: 10.1002/14651858.CD007966.pub2.
  • Ostanek B, Furlan D, Mavec T, Lukac-Bajalo J (2007) UGT1A1(TA)n promoter polymorphism - a new case of a (TA)8 allele in Caucasians. Blood Cells Mol Dis 38: 78–82. doi: 10.106/jbcmd.2006.10.160.
  • Peters WH, Te Morsche RH, Roelofs HM (2003) Combined polymorphisms in UDP-glucuronosyltransferases 1A1 and 1A6: implications for patients with Gilbert's syndrome. J Hepatol 38: 3-8.
  • Porter ML, Dennis BL (2002) Hyperbilirubinemia in the Term Newborn. Am Fam Physician 65: 599-607.
  • Romanowski T, Sikorska K, Bielawski KP (2009) UGT1A1 gene polymorphism as a potential factor inducing iron overload in the pathogenesis of type 1 hereditary hemochromatosis. Hepatol Res 39: 469-478. doi: 10.1111/j.1872-034X.2008.00487.x.
  • Roy-Chowdhury N, Deocharan B, Bejjanki HR, Roy-Chowdhury J, Koliopoulos C, Petmezaki S, Valaes T (2002) Presence of the genetic marker for Gilbert syndrome is associated with increased level and duration of neonatal jaundice. Acta Paediatr 91: 100-101. doi: 10.1111/j.1651-2227.2002.tb01650.x.
  • Scrafford CG, Mullany LC, Katz J, Khatry SK, LeClerq SC, Darmstadt GL, Tielsch JM (2013) Incidence of and risk factors for neonatal jaundice among newborns in southern Nepal. Trop Med Int Health 18: 1317-1328. doi: 10.111/tmj12189.
  • Sugatani J, Yamakawa K, Yoshinari K, Machida T, Takagi H, Mori M, Kakizaki S, Sueyoshi T, Negishi M, Miwa M (2002) Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia. Biochem Biophys Res Commun 292: 492-497. doi: 10.1006/bbrc.2002.6683.
  • Tioseco JA, Aly H, Milner J, Patel K, El-Mohandes AA (2005) Does gender affect neonatal hyperbilirubinemia in low-birth-weight infants? Pediatr Crit Care Med 6: 171-174. doi: 10.1097/01.PCC.0000154961.37833.79.
  • Tiwari PK, Bhutada A, Agarwal R, Basu S, Raman R, Kumar A (2014) UGT1A1 gene variants and clinical risk factors modulate hyperbilirubinemia risk in newborns. J Perinatol 34: 120-124. doi: 10.1038/jp.2013.140.
  • Watchko JF, Lin Z (2010) Exploring the genetic architecture of neonatal hyperbilirubinemia. Semin Fetal Neonatal Med 15: 169-175. doi: 10.1016/j.siny.2009.11.003.
  • Yang WC, Zhao LL, Li YC, Chen CH, Chang YJ, Fu YC, Wu HP (2013) Bodyweight loss in predicting neonatal hyperbilirubinemia 72 hours after birth in term newborn infants. BMC Pediatr 13: 145. doi: 10.1186/1471-2431-13-145.
Document Type
Publication order reference
Identifiers
YADDA identifier
bwmeta1.element.bwnjournal-article-abpv64p351kz
JavaScript is turned off in your web browser. Turn it on to take full advantage of this site, then refresh the page.