UGT1A1 gene polymorphisms in north indian neonates presenting with unconjugated hyperbilirubinemia

Pediatric Research

Volumn 65, Issue 6, 2009, Pages 675-680

  Agrawal, Sunil K ^a   Kumar, Praveen ^a   Rathi, Ritu ^a   Sharma, Neeraj ^a   Das, Reena ^a   Prasad, Rajendra ^a   Narang, Anil ^a  

^a POSTGRADUATE INSTITUTE OF MEDICAL EDUCATION AND RESEARCH   (India)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ARGININE; BILIRUBIN; GLUCOSE 6 PHOSPHATE DEHYDROGENASE; GLUCURONOSYLTRANSFERASE 1A1; GLYCINE; THYMINE;

ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE; GENE MUTATION; GENETIC POLYMORPHISM; GILBERT DISEASE; HEREDITY; HOSPITAL BASED CASE CONTROL STUDY; HUMAN; HYPERBILIRUBINEMIA; INCIDENCE; INDIA; JAUNDICE; MAJOR CLINICAL STUDY; MALE; NEWBORN; NEWBORN DISEASE; NUCLEOTIDE SEQUENCE; PHOTOTHERAPY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; RISK FACTOR; SINGLE STRAND CONFORMATION POLYMORPHISM; UGT1A1 GENE;

BASE SEQUENCE; BILIRUBIN; CASE-CONTROL STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GESTATIONAL AGE; GLUCOSEPHOSPHATE DEHYDROGENASE; GLUCURONOSYLTRANSFERASE; HUMANS; HYPERBILIRUBINEMIA, NEONATAL; INDIA; INFANT, NEWBORN; JAUNDICE; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PREGNANCY; PROMOTER REGIONS, GENETIC; REPETITIVE SEQUENCES, NUCLEIC ACID;

EID: 67049117793     PISSN: 00313998     EISSN: 15300447     Source Type: Journal    
DOI: 10.1203/PDR.0b013e31819ed5de     Document Type: Article

References (34)

1. Setia S, Villaveces A, Dhillon P, Mueller BA 2002 Neonatal jaundice in Asian, white, and mixed-race infants. Arch Pediatr Adolesc Med 156:276-279
2. Narang A, Gathwala G, Kumar P 1997 Neonatal jaundice: an analysis of 551 cases. Indian Pediatr 34:429-432
3. Newman TB, Easterling MJ, Goldman ES, Stevenson DK 1990 Laboratory evaluation of jaundice in newborns. Frequency, cost, and yield. Am J Dis Child 144:364-368
4. Kaplan M, Hammerman C 2005 Bilirubin and the genome: the hereditary basis of unconjugated neonatal hyperbilirubinemia. Curr Pharmacogenomics 3:21-42
5. Watchko JF 2004 Genetics and the risk of neonatal hyperbilirubinemia. Pediatr Res 56:677-678
6. Monaghan G, Ryan M, Seddon R, Hume R, Burchell B 1996 Genetic variation in bilirubin UDP-glucuronosyltransferase gene promoter and Gilbert's syndrome. Lancet 347:578-581
7. Maruo Y, Nishizawa K, Sato H, Doida Y, Shimada M 1999 Association of neonatal hyperbilinubinemia with bilirubin UDP-glucuronosyltransferase polymorphisms. Pediatrics 103:1224-1227
8. Volpe JJ 2001 Acute bilirubin encephalopathy. In: Volpe JJ (ed) Neurology of the Newborn. W. B. Saunders, Philadelphia, pp 2234
9. Kornberg A, Horecker BL 1955 Glucose-6-phosphate dehydrogenase. In: Colowick SP, Kaplan NO (eds) Methods in Enzymology. Academic Press, New York, pp 323-326
10. Daly AK, Steen VM, Fairbrother KS, Idle JR 1996 CYP2D6 Multiallelism. Methods Enzymol 272:199-210
11. Kaplan M, Renbaum P, Levy-Lahad E, Hammerman C, Lahad A, Beutler E 1997 Gilbert Syndrome and glucose-6-phosphate dehydrogenase deficiency: a dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia. Proc Natl Acad Sci USA 94:12128-12132
12. Kumar S, Thapa BR, Kaur G, Prasad R 2006 Familial gene analysis for Wilson disease from north-west Indian patients. Ann Hum Biol 33:177-186
13. Huang MJ, Kua KE, Teng HC, Tang KS, Weng HW, Huang CS 2004 Risk factors for severe hyperbilirubinemia in neonates. Pediatr Res 56:682-689
14. Jendrassik L, Grof P 1938 [Simplified photometric methods for the determination of the bilirubins]. Biochem Z 297:81-89
15. 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
16. *28 is a common allele in Indians. Pharmacogenetics 12:81-83
17. Farheen S, Sengupta S, Santra A, Pal S, Dhali GK, Chakravorty M, Majumder PP, Chowdhury A 2006 Gilbert's syndrome: High frequency of the (TA)7TAA allele in India and its interaction with a novel CAT insertion in promoter of the gene for bilirubin UDP-glucuronosyltransferase 1 gene. World J Gastroenterol 12:2269-2275
18. Premawardhena A, Fisher CA, Liu YT, Verma IC, de Silva S, Arambepola M, Clegg JB, Weatherall DJ 2003 The global distribution of length polymorphisms of the promoters of the glucuronosyltransferase 1 gene (UGT1A1): Hematologic and evolutionary implications. Blood Cells Mol Dis 31:98-101
19. Huang CS, Chang PF, Huang MJ, Chen ES, Hung KL, Tsou KI 2002 Relationship between bilirubin UDP-glucuronosyltransferase 1A1 gene and neonatal hyperbilirubinemia. Pediatr Res 52:601-605
20. Yamamoto A, Nishio H, Waku S, Yokoyama N, Yonetani M, Uetani Y, Nakamura H 2002 Gly71Arg mutation of the bilirubin UDP-glucuronosyltransferase 1A1 gene is associated with neonatal hyperbilirubinemia in Japanese population. Kobe J Med Sci 48:73-77
21. Yusoff S, Rostenberghe HV, Yusoff NM, Talib NA, Ramli N, Ismail ZA, Ismail WP, Matsuo M, Nishio H 2006 Frequencies of A(TA)7TAA, G71R, and G493R mutations of the UGT1A1 gene in the Malaysian population. Biol Neonate 89:171-176
22. 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
23. 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
24. Muslu N, Turhan AB, Eskandari G, Atici A, Ozturk OG, Kul S, Atik U 2007 The frequency of UDP-glucuronosyltransferase 1A1 promotor region (TA)7 polymorphism in newborns and its relation with jaundice. J Trap Pediatr 53:64-68
25. Beutler E, Gelbart T, Demina A 1998 Racial variability in the UDP glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? Proc Natl Acad Sci USA 95:8170-8174
26. Coelho H, Costa E, Vieira E, Branca R, dos Santos R, Sarbot J 2004 A new case of (TA)8 allele in the UGT1A1 gene promoter in a Caucasian girl with Gilbert syndrome. Pediatr Hematol Oncol 21:371-374
27. n promoter polymorphism-a new case of a (TA)8 allele in Caucasians. Blood Cells Mol Dis 38:78-82
28. Bancroft JD, Kreamer B, Gourley GR 1998 Gilbert ssyndrome accelerates the development of neonatal jaundice. J Pediatr 132:656-660
29. 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
30. Galanello R, Cipollina MD, Carboni G, Perseu L, Barella S, Corrias A, Cao A 1999 Hyperbilirubinemia, glucose-6-phosphate-dehydrogenase deficiency and Gilbert's syndrome. Eur J Pediatr 158:914-916
31. Iolascon A, Faienza MF, Perrotta S, Meloni GF, Ruggiu G, del Giudice EM 1999 Gilbert's syndrome and jaundice in glucose-6-phosphate dehydrogenase deficient neonates. Haematologica 84:99-102
32. Kaplan M, Hammerman C, Beutler E 2001 Hyperbilirubinemia, glucose-6-phosphate dehydrogenase deficiency and Gilbert syndrome. Eur J Pediatr 160:195
33. Ritter JK, Crawford JM, Owens IS 1991 Cloning of two human liver bilirubin UDP-glucuronosyltransferase cDNAs with expression in COS-1 cells. J Biol Chem 266:1043-1047
34. SNP structure, function, disease. Available at: http://www.snps3d.org/. Accessed September 1, 2008