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Volumn 34, Issue 2, 2014, Pages 120-124

UGT1A1 gene variants and clinical risk factors modulate hyperbilirubinemia risk in newborns

Author keywords

bilirubin; genetic variant; neonatal hyperbilirubinemia; UGTIA1 gene

Indexed keywords

ADULT; BILIRUBIN; BLOOD GROUP INCOMPATIBILITY; CASE-CONTROL STUDIES; FEMALE; GLUCURONOSYLTRANSFERASE; HUMANS; HYPERBILIRUBINEMIA, NEONATAL; HYPOTHYROIDISM; INFANT, NEWBORN; LOGISTIC MODELS; MALE; PHENOTYPE; PHOTOTHERAPY; POLYMORPHISM, GENETIC; PROSPECTIVE STUDIES; RISK FACTORS; SEPSIS;

EID: 84895910818     PISSN: 07438346     EISSN: 14765543     Source Type: Journal    
DOI: 10.1038/jp.2013.140     Document Type: Article
Times cited : (26)

References (27)
  • 1
    • 0033015263 scopus 로고    scopus 로고
    • Predictive ability of a predischarge hour-specific serum bilirubin for subsequent significant hyperbiliru-binemia in healthy term and near-term newborns
    • Bhutani VK, Johnson L, Sivieri EM. Predictive ability of a predischarge hour-specific serum bilirubin for subsequent significant hyperbiliru-binemia in healthy term and near-term newborns. Pediatrics 1999; 103: 6-14.
    • (1999) Pediatrics , vol.103 , pp. 6-14
    • Bhutani, V.K.1    Johnson, L.2    Sivieri, E.M.3
  • 2
    • 18544409633 scopus 로고    scopus 로고
    • Imbalance between production and conjugation of bilirubin: A fundamental concept in the mechanism of neonatal jaundice
    • Kaplan M, Muraca M, Hammerman C, Rubaltelli FF, Vilei MT, Vreman HJ et al. Imbalance between production and conjugation of bilirubin: a fundamental concept in the mechanism of neonatal jaundice. Pediatrics 2002; 110: e47.
    • (2002) Pediatrics , vol.110
    • Kaplan, M.1    Muraca, M.2    Hammerman, C.3    Rubaltelli, F.F.4    Vilei, M.T.5    Vreman, H.J.6
  • 5
    • 0028867826 scopus 로고
    • The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome
    • 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- glucuronosyltransferase 1 in Gilbert's syndrome. N Eng J Med 1995; 333: 1171-1175.
    • (1995) N Eng J Med , vol.333 , pp. 1171-1175
    • Bosma, P.J.1    Chowdhury, J.R.2    Bakker, C.3    Gantla, S.4    De Boer, A.5    Oostra, B.A.6
  • 7
    • 0031864410 scopus 로고    scopus 로고
    • Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II
    • Yamamoto K, Sato H, Fujiyama Y, Doida Y, Bamba T. Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II. Biochem Biophys Acta 1998; 1406: 267-273.
    • (1998) Biochem Biophys Acta , vol.1406 , pp. 267-273
    • Yamamoto, K.1    Sato, H.2    Fujiyama, Y.3    Doida, Y.4    Bamba, T.5
  • 8
  • 9
    • 79958051524 scopus 로고    scopus 로고
    • Neonatal hyperbilirubinemia and Gly71Arg mutation of UGT1A1 gene: A Chinese case-control study followed by systematic review of existing evidence
    • Long J, Zhang S, Fang X, Luo Y, Liu J. Neonatal hyperbilirubinemia and Gly71Arg mutation of UGT1A1 gene: a Chinese case-control study followed by systematic review of existing evidence. Acta Paediatr 2011; 100: 966-971.
    • (2011) Acta Paediatr , vol.100 , pp. 966-971
    • Long, J.1    Zhang, S.2    Fang, X.3    Luo, Y.4    Liu, J.5
  • 10
    • 67049117793 scopus 로고    scopus 로고
    • UGT1A1 gene polymorphisms in North Indian neonates presenting with unconjugated hyper-bilirubinemia
    • Agrawal SK, Kumar P, Rathi R, Sharma N, Das R, Prasad R et al. UGT1A1 gene polymorphisms in North Indian neonates presenting with unconjugated hyper-bilirubinemia. Pediatr Res 2009; 65: 675-680.
    • (2009) Pediatr Res , vol.65 , pp. 675-680
    • Agrawal, S.K.1    Kumar, P.2    Rathi, R.3    Sharma, N.4    Das, R.5    Prasad, R.6
  • 11
    • 0031719562 scopus 로고    scopus 로고
    • Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphateglucuro-nosyltransferase gene: A common missense mutation among Japanese
    • Akaba K, Kimura T, Sasaki A, Tanabe S, Wakabayashi T, Hiroi M et al. Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphateglucuro-nosyltransferase gene: a common missense mutation among Japanese, Koreans and Chinese. Biochem Mol Biol Int 1998; 46: 21-26.
    • (1998) Koreans and Chinese. Biochem Mol Biol Int , vol.46 , pp. 21-26
    • Akaba, K.1    Kimura, T.2    Sasaki, A.3    Tanabe, S.4    Wakabayashi, T.5    Hiroi, M.6
  • 12
    • 3042718933 scopus 로고    scopus 로고
    • Management of hyperbilirubinemia in the newborn infant 35 or more weeks of gestation
    • American Academy of Pediatrics, Subcommittee on Hyperbilirubinemia
    • American Academy of Pediatrics, Subcommittee on Hyperbilirubinemia. Management of hyperbilirubinemia in the newborn infant 35 or more weeks of gestation. Pediatrics 2004; 114: 297-316.
    • (2004) Pediatrics , vol.114 , pp. 297-316
  • 13
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 15
    • 55449136165 scopus 로고    scopus 로고
    • Variation in the UDP-glucur-onosyltransferase 1A1 gene for the development of unconjugated hyperbilir-ubinemia in Taiwanese
    • Huang YY, Huang MJ, Yang SS, Chen H, Huang CS. Variation in the UDP-glucur-onosyltransferase 1A1 gene for the development of unconjugated hyperbilir-ubinemia in Taiwanese. Pharmacogenomics 2008; 9: 1229-1235.
    • (2008) Pharmacogenomics , vol.9 , pp. 1229-1235
    • Huang, Y.Y.1    Huang, M.J.2    Yang, S.S.3    Chen, H.4    Huang, C.S.5
  • 16
    • 0029015847 scopus 로고
    • Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilir-ubin UDPglucuronosyltransferase
    • 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 bilir-ubin UDPglucuronosyltransferase. Hum Mol Genet 1995; 4: 1183-1186.
    • (1995) Hum Mol Genet , vol.4 , pp. 1183-1186
    • Koiwai, O.1    Nishizawa, M.2    Hasada, K.3    Aono, S.4    Adachi, Y.5    Mamiya, N.6
  • 17
    • 33646252012 scopus 로고    scopus 로고
    • Gilbert's syndrome: High frequency of the (TA)7 TAA allele in India and its interaction with a novel CAT insertion in promoter of the gene from bilirubin UDP-glucur-onosyltransferase 1 gene
    • Farheen S, Sengupta S, Santra A, Pal S, Dhali GK, Chakravorty M et al. Gilbert's syndrome: high frequency of the (TA)7 TAA allele in India and its interaction with a novel CAT insertion in promoter of the gene from bilirubin UDP-glucur-onosyltransferase 1 gene. World J Gastroenterol 2006; 12: 2269-2275.
    • (2006) World J Gastroenterol , vol.12 , pp. 2269-2275
    • Farheen, S.1    Sengupta, S.2    Santra, A.3    Pal, S.4    Dhali, G.K.5    Chakravorty, M.6
  • 18
    • 77949557874 scopus 로고    scopus 로고
    • A polymorphic mutation, c.-3279T4G, in the UGT1A1 promoter is a risk factor for neonatal jaundice in the Malay population
    • Yusoff S, Takeuchi A, Ashi C, Tsukada M, Ma'amor NH, Zilfalil BA et al. A polymorphic mutation, c.-3279T4G, in the UGT1A1 promoter is a risk factor for neonatal jaundice in the Malay population. Pediatr Res 2010; 67: 401-406.
    • (2010) Pediatr Res , vol.67 , pp. 401-406
    • Yusoff, S.1    Takeuchi, A.2    Ashi, C.3    Tsukada, M.4    Ma'Amor, N.H.5    Zilfalil, B.A.6
  • 19
    • 20244362527 scopus 로고    scopus 로고
    • Neonatal hyperbilirubinemia and the bilirubin uridine diphosphate-glucuronosyltransferase gene: The common-3263T4G mutation of phenobarbital response enhancer module is not associated with the neonatal hyperbilirubinemia in Japanese
    • 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-3263T4G mutation of phenobarbital response enhancer module is not associated with the neonatal hyperbilirubinemia in Japanese. Pediatr Int 2005; 47: 137-141.
    • (2005) Pediatr Int , vol.47 , pp. 137-141
    • Kanai, M.1    Kijima, K.2    Shirahata, E.3    Sasaki, A.4    Akaba, K.5    Umetsu, K.6
  • 20
    • 77950378443 scopus 로고    scopus 로고
    • A causal relationship between UDP-glucuronosyl-transferase 1A1 promoter polymorphism and idiopathic hyperbilirubinemia in Turkish newborns
    • Ergin H, Bican M, Atalay OE. A causal relationship between UDP-glucuronosyl-transferase 1A1 promoter polymorphism and idiopathic hyperbilirubinemia in Turkish newborns. Turk J Pediatr 2010; 52: 28-34.
    • (2010) Turk J Pediatr , vol.52 , pp. 28-34
    • Ergin, H.1    Bican, M.2    Atalay, O.E.3
  • 21
    • 0031949264 scopus 로고    scopus 로고
    • Gilbert syndrome accelerates development of neonatal jaundice
    • Bancroft JD, Kreamer B, Gourley GR. Gilbert syndrome accelerates development of neonatal jaundice. J Pediatr 1998; 132: 656-660.
    • (1998) J Pediatr , vol.132 , pp. 656-660
    • Bancroft, J.D.1    Kreamer, B.2    Gourley, G.R.3
  • 22
    • 0036181570 scopus 로고    scopus 로고
    • Presence of the genetic marker for Gilbert syndrome is associated with increased level and duration of neonatal jaundice
    • Roy-Chowdhury N, Deocharan B, Bejjanki HR, Roy-Chowdhury J, Koliopoulos C, Petmezaki S et al. Presence of the genetic marker for Gilbert syndrome is associated with increased level and duration of neonatal jaundice. Acta Paediatr 2002; 91: 100-102.
    • (2002) Acta Paediatr , vol.91 , pp. 100-102
    • Roy-Chowdhury, N.1    Deocharan, B.2    Bejjanki, H.R.3    Roy-Chowdhury, J.4    Koliopoulos, C.5    Petmezaki, S.6
  • 23
    • 0036157862 scopus 로고    scopus 로고
    • Genetic polymorphisms of UDP-glucuronosyltransferase in Asians: UGT1A1*28 is a common allele in Indians
    • Balram C, Sabapathy K, Fei G, Khoo KS, Lee E. Genetic polymorphisms of UDP-glucuronosyltransferase in Asians: UGT1A1*28 is a common allele in Indians. Pharmacogenetics 2002; 12: 81-83.
    • (2002) Pharmacogenetics , vol.12 , pp. 81-83
    • Balram, C.1    Sabapathy, K.2    Fei, G.3    Khoo, K.S.4    Lee, E.5
  • 24
    • 0038351780 scopus 로고    scopus 로고
    • The global distribution of length polymorphisms of the promoters of the glucur-onosyltransferase 1 gene (UGT1A1): Hematologic and evolutionary implications
    • Premawardhena A, Fisher CA, Liu YT, Verma IC, de Silva S, Arambepola M et al. The global distribution of length polymorphisms of the promoters of the glucur-onosyltransferase 1 gene (UGT1A1): Hematologic and evolutionary implications. Blood Cells Mol Dis 2003; 31: 98-101.
    • (2003) Blood Cells Mol Dis , vol.31 , pp. 98-101
    • Premawardhena, A.1    Fisher, C.A.2    Liu, Y.T.3    Verma, I.C.4    De Silva, S.5    Arambepola, M.6
  • 25
    • 0036551605 scopus 로고    scopus 로고
    • Breast-feeding, neonatal jaundice and kernicterus
    • Gourley GR. Breast-feeding, neonatal jaundice and kernicterus. Semin Neonatol 2002; 7: 135-141.
    • (2002) Semin Neonatol , vol.7 , pp. 135-141
    • Gourley, G.R.1
  • 26
    • 0020712327 scopus 로고
    • Mechanisms and significance of fasting and dietary hyperbilirubinemia
    • Whitmer DI, Gollan JL. Mechanisms and significance of fasting and dietary hyperbilirubinemia. Semin Liver Dis 1983; 3: 42-51.
    • (1983) Semin Liver Dis , vol.3 , pp. 42-51
    • Whitmer, D.I.1    Gollan, J.L.2
  • 27
    • 0029929151 scopus 로고    scopus 로고
    • Fasting-related hyperbilirubinemia in rats: The effect of decreased intestinal motility
    • Kotal P, Vitek L, Fevery J. Fasting-related hyperbilirubinemia in rats: the effect of decreased intestinal motility. Gastroenterol 1996; 111: 217-223.
    • (1996) Gastroenterol , vol.111 , pp. 217-223
    • Kotal, P.1    Vitek, L.2    Fevery, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.