1828G>A polymorphism of the UDP-glucuronosyltransferase gene (UGT1A1) for neonatal hyperbilirubinemia in Koreans |
Kim, Ja Young
(Department of Pediatrics, Sung-Ae General Hospital)
Kim, Mi Yeoun (Department of Pediatrics, Sung-Ae General Hospital) Kim, Ji Sook (Department of Pediatrics, Sung-Ae General Hospital) Kim, Eun Ryoung (Department of Pediatrics, Sung-Ae General Hospital) Yoon, Seo Hyun (Department of Pharmacology, College of Medicine, Kyunghee University) Lee, Hee Jae (Department of Pharmacology, College of Medicine, Kangwon National University) Chung, Joo Ho (Department of Pharmacology, College of Medicine, Kyunghee University) |
1 | Maisels MJ. Jaundice. In : Avery GB, Fletcher MA, Mac- Donald MG, editors. Neonatology : pathophysiology and management of the newborn. 5th ed. Philadelphia : JB Lippincott Co, 1999:765-819 |
2 | Brown WR, Boon WH. Ethic group differences in plasma bilirubin levels of full-term, healthy Singapore newborns. Pediatrics 1965;36:745-51 |
3 | Newman TB, Easterlin MJ, Goldman ES, Stevenson DK. Laboratory evaluation of jaundice in newborns. Am J Dis Child 1990;144:364-8 DOI |
4 | Drew JH, Kitchen WH. Jaundice in infants of greek parentage : the unknown factor may be environmental. J Pediatr 1976;89:248-52 DOI |
5 | Hong KW, Kang H, Kim IS, Kim JS, Kim ER, Lee HJ, et al. Polymorphism of UDP-glucuronosyltransferase gene (UGT1A1) of neonatal hyperbilirubinemia in Korea. Korean J Pediatr 2004;47:18-23 |
6 | Akaba K, Kimura T, Sasaki A, Tanabe S, Wakabayashi T, Hiroi M, et al. Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese. J Hum Genet 1999;44:22-5 DOI |
7 | Huang CS, Luo GA, Huang MJ, Yu SC, Yang SS. Variations of the bilirubin uridine-diphosphoglucuronosyl transferase 1A1 gene in healthy Taiwanese. Pharmacogenetics 2000;10:539-44 DOI |
8 | Kim YH, Yeon JE, Jung GM, Kim HJ, Kim JS, Byun KS, et al. A study of polymorphism in UDP-glucuronyltransferase 1(UGT-1A1) promoter gene in Korean patients with Gilbert's syndrome. Korean J Hepatol 2002;8:132-8 |
9 | Linn S, Schoenbaum SC, Monson RR, Rosner B, Stubblefield PG, Ryan KJ. Epidemiology of neonatal hyperbilirubinemia. Pediatrics 1985;75:770-4 |
10 | Huang CS, Chang PF, Huang MJ, Chen ES, Hung KL, Tsou KI. Relationship between bilirubin UDP-glucuronosyltransferase 1A1 gene and neonatal hyperbilirubinemia. Pediatr Res 2002;52:601-5 DOI |
11 | Kanai M, Kijima K, Shirahata E, Sasaki A, Akaba K, Umetsu K, et al. Neonatal hyperbilirubinemia and the bilirubin uridine diphosphate glucuronosyltransferase gene : the common -3263T> G mutation of phenobabital response enhancer module is not associated with the neoanatal hyperbilibinemia in Japanese. Pediatr Int 2005;47:137-41 DOI ScienceOn |
12 | Huang CS, Chang PF, Huang MJ, Chen ES, Chen WC. Glucose-6-phosphate dehydrogenase deficiency, the UDPglucuronosyl transferase 1A1 gene, and neonatal hyperbilirubinemia. Gastroenterology 2002;123:127-33 DOI ScienceOn |
13 | Bancroft JD, Kreamer B, Gourley GR. Gilbert,s syndrome accelerates development of neonatal jaundice. J Pediatr 1998;132:656-60 DOI ScienceOn |
14 | Yamamoto K, Sato H, Fujiyama Y, Doida Y, Bamba T. Contribution of two missense mutations(G71R and Y486D) of the bilirubin UDP glucosyltransferase(UGT1A1) gene phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II. Biochim Biophys Acta 1998;1406:267-73 DOI |
15 | Maruo Y, Addario CD, Mori A, Iwai M, Takahashi H, Sato H, et al. Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome. Hum Genet 2004;115:525-6 DOI ScienceOn |
16 | Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A, Oostra BA, et al. The genetic basis of the reduced expression of bilirubin UDP-glucuronyltransferase 1 in Gilbert's syndrome. N Engl J Med 1995;333:1171-5 DOI ScienceOn |
17 | Khoury MJ, Calle EE, Joesoef RM. Recurrence risk of neonatal hyperbilirubinemia in siblings. Am J Dis Child 1988; 142:1065-9 |
18 | Nielsen HE, Haase P, Blaabjerg J, Stryhn H, Hilden J. Risk factors and sib correlation in physiological neonatal jaundice. Acta Paediatr Scand 1987;76:504-11 DOI |
19 | Ritter JK, Crawford JM, Owens IS. Cloning of two human liver bilirubin UDP-glucuronosyltransferase cDNAs with expression in COS-1 cells. J Biol Chem 1991;266:1043-7 |
20 | Burchell B, Hume R. Molecular genetic basis of Gilbert's syndrome. J Gastroenterol Hepatol 1999;14:960-6 DOI ScienceOn |
21 | Huang MJ, Kug KE, Teng Hc, Tang KS, Weng HW, Hung CS. Risk factors for severe hyperbilirubinemia in neonates. Pediatr Res 2004;56:682-9 DOI ScienceOn |
22 | Akaba K, Kimura T, Sasaki A, Tanabe S, Ikegami T, Hashimoto M, et al. Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphate glucuronosyltransferase gene : A common missense mutation among Japanese, Koreans and Chinese. Biochem Molec Biol Int 1998; 46:21-6 |
23 | Friedman L, Lewis PJ, Clifton P, Bulpitt CJ. Factors influencing the incidence of neonatal jaundice. Br Med J 1978;1: 1235-7 DOI |
24 | Beutler E, Gelbart T, Demina A. Racial variability in the UDP-glucuronosyl transferase 1(UGT1A1) promoter : A balanced polymorphism for regulation of bilirubin metabolism?Proc Natl Acad Sci USA 1998;95:8170-4 |
25 | Yamamoto A, Nishio H, Waku S, Yokoyama N, Yonetani M, Uetani Y, et al. Gly71Arg mutation of the bilirubin UDP-glucuronosyltransferase 1A1 gene is associated with neonatal hyperbilirubinemia in the Japanese population. Kobe J Med Sci 2002;48:73-7. |
26 | Sutomo R, Talib NA, Yusoff NM, Van Rostenberghe H, Sadewa AH, Sunarti, et al. Screening for G71R mutation of the UGT1A1 gene in the Javanese- Indonesian and Malay- Malaysian populations. Pediatr Int 2004;46:565-9 DOI ScienceOn |
27 | Horiguchi T, Bauer C. Ethnic differences in neonatal jaundice : Comparison of Japanese and Caucasian newborn infants. Am J Obstet Gynecol 1975;121:71-4 DOI |
28 | Koiwai O, Nishizawa M, Hasada K, Aono S, Adachi Y, Mamiya N, et al. Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDPglucuronosyltransferase. Hum Mol Genet 1995;4:1183-6. DOI ScienceOn |
29 | Kadakol A, Ghosh SS, Sappal BS, Sharma G, Chowdhury NR. Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase(UGT1A1) causing Crigler- Najjar and Gilbert syndromes : correlation of genotype to phenotype. Hum Mutat 2000;16:297-306 DOI ScienceOn |
30 | Maruo Y, Nishizawa K, Sato H, Doida Y, Shimada M. Association of neonatal hyperbilirubinemia with bilirubin UDP-glucuronosyltransferase polymorphism. Pediatrics 1999; 103:1224-7 DOI ScienceOn |
31 | Monaghan G, Ryan M, Seddon R, Hume R, Burchell B. Genetic variation in bilirubin UDP-glucuronosyltransferase gene promoter and Gilbert's syndrome. Lancet 1996;347: 578-81 DOI ScienceOn |
32 | Gale R, Seidman DS, Dollberg S, Stervenson DK. Epidemiology of neonatal jaundice in the Jerusalem population. J Pediatr Gastroenterol Nutr 1990;10:82-6 DOI |
33 | Kang H, Lim JH, Kim JS, Kim ER, Kim SD, Lee HJ, et al. The association of neonatal hyperbilirubinemia with UGT1A1 and CYP1A2 gene polymorphism in Korean neonate.Korean J Pediatr 2005;48:35-41 |
34 | Ando Y, Chida M, Nakayama K, Saka H, Kamataki T. The UGT1A1*28 allele is relatively rare in a Japanese population. Pharmacogenetics 1998;8:357-60 DOI |
35 | Raijmarkers MT, Jansen PL, Steegers EA, Peters WH. Association of human liver bilirubin UDP-glucuronyltransferase activity with a polymorphism in the promoter region of the UGT1A1 gene. J Hepatol 2000;33:348-51 DOI ScienceOn |
36 | Takeuchi K, Kobayashi Y, Tamaki S, Maruo Y, Araki J, Mifuji R, et al. Genetic polymorphisms of bilirubin uridine diphosphate glucrononsyltransferase gene in Japanese patients with Crigler-Najjar syndrome or Gilbert's syndrome as well as in healthy Japanese subjects. J Gstroenterol Hepatol 2004;19:955-7 DOI ScienceOn |
37 | Sugatani J, Yamakawa K, Yoshinari K, Machida T, Takagi H, Mori M, et al. Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia. Biochem Biophys Res Commun 2002;292:492-7 DOI ScienceOn |