메뉴 건너뛰기




Volumn 42, Issue 16-17, 2009, Pages 1635-1641

Haplotypes in the UGT1A1 gene and their role as genetic determinants of bilirubin concentration in healthy German volunteers

Author keywords

Bilirubin; Caucasians; Haplotypes; UDP glucuronosyltransferases

Indexed keywords

BILIRUBIN; DNA; GLUCURONOSYLTRANSFERASE 1A1;

EID: 70349964671     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2009.08.011     Document Type: Article
Times cited : (24)

References (30)
  • 2
    • 0034966656 scopus 로고    scopus 로고
    • Thirteen UDPglucuronosyltransferase genes are encoded at the human UGT1 gene complex locus
    • Gong Q.H., Cho J.W., Huang T., Potter C., Gholami N., Basu N.K., et al. Thirteen UDPglucuronosyltransferase genes are encoded at the human UGT1 gene complex locus. Pharmacogenetics 11 4 (2001) 357-368
    • (2001) Pharmacogenetics , vol.11 , Issue.4 , pp. 357-368
    • Gong, Q.H.1    Cho, J.W.2    Huang, T.3    Potter, C.4    Gholami, N.5    Basu, N.K.6
  • 3
    • 0037184841 scopus 로고    scopus 로고
    • Genetic polymorphisms of UDP-glucuronosyltransferases and their functional significance
    • Miners J.O., McKinnon R.A., and Mackenzie P.I. Genetic polymorphisms of UDP-glucuronosyltransferases and their functional significance. Toxicology 181-182 (2002) 453-456
    • (2002) Toxicology , vol.181-182 , pp. 453-456
    • Miners, J.O.1    McKinnon, R.A.2    Mackenzie, P.I.3
  • 4
    • 0028867826 scopus 로고
    • The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome
    • Bosma P.J., Chowdhury J.R., Bakker C., Gantla S., de Boer A., Oostra B.A., et al. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N. Engl. J. Med. 333 18 (1995 Nov 2) 1171-1175
    • (1995) N. Engl. J. Med. , vol.333 , Issue.18 , 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
  • 5
    • 0032493441 scopus 로고    scopus 로고
    • Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism?
    • Beutler E., Gelbart T., and Bemina A. Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism?. Proc. Natl. Acad. Sci. U. S. A. 95 14 (1998 Jul 7) 8170-8174
    • (1998) Proc. Natl. Acad. Sci. U. S. A. , vol.95 , Issue.14 , pp. 8170-8174
    • Beutler, E.1    Gelbart, T.2    Bemina, A.3
  • 6
    • 0033802568 scopus 로고    scopus 로고
    • Molecular diagnosis of a familial nonhemolytic hyperbilirubinemia (Gilbert's syndrome) in healthy subjects
    • Borlak J., Thum T., Landt O., Erb K., and Hermann R. Molecular diagnosis of a familial nonhemolytic hyperbilirubinemia (Gilbert's syndrome) in healthy subjects. Hepatology 32 4 Pt 1 (2000) 792-795
    • (2000) Hepatology , vol.32 , Issue.4 PART 1 , pp. 792-795
    • Borlak, J.1    Thum, T.2    Landt, O.3    Erb, K.4    Hermann, R.5
  • 7
    • 14044279224 scopus 로고    scopus 로고
    • Racial variability in haplotype frequencies of UGT1A1 and glucuronidation activity of a novel single nucleotide polymorphism 686C > T (P229L) found in an African-American
    • Kaniwa N., Kurose K., Jinno H., Tanaka-Kagawa T., Saito Y., Saeki M., et al. Racial variability in haplotype frequencies of UGT1A1 and glucuronidation activity of a novel single nucleotide polymorphism 686C > T (P229L) found in an African-American. Drug Metab. Dispos. 33 3 (2005) 458-465
    • (2005) Drug Metab. Dispos. , vol.33 , Issue.3 , pp. 458-465
    • Kaniwa, N.1    Kurose, K.2    Jinno, H.3    Tanaka-Kagawa, T.4    Saito, Y.5    Saeki, M.6
  • 8
    • 12244271026 scopus 로고    scopus 로고
    • Haplotype structure of the UDP-glucuronosyltransferase 1A1 promoter in different ethnic groups
    • Erratum in: Pharmacogenetics. 2003 Mar;13(3):183
    • Innocenti F., Grimsley C., Das S., Ramírez J., Cheng C., Kuttab-Boulos H., et al. Haplotype structure of the UDP-glucuronosyltransferase 1A1 promoter in different ethnic groups. Pharmacogenetics 12 9 (2002 Dec) 725-733 Erratum in: Pharmacogenetics. 2003 Mar;13(3):183
    • (2002) Pharmacogenetics , vol.12 , Issue.9 , pp. 725-733
    • Innocenti, F.1    Grimsley, C.2    Das, S.3    Ramírez, J.4    Cheng, C.5    Kuttab-Boulos, H.6
  • 9
    • 0344083645 scopus 로고    scopus 로고
    • Haplotype structure of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene and its relationship to serum total bilirubin concentration in a male Korean population
    • Ki C.S., Lee K.A., Lee S.Y., Kim H.J., Cho S.S., Park J.H., et al. Haplotype structure of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene and its relationship to serum total bilirubin concentration in a male Korean population. Clin. Chem. 49 12 (2003) 2078-2081
    • (2003) Clin. Chem. , vol.49 , Issue.12 , pp. 2078-2081
    • Ki, C.S.1    Lee, K.A.2    Lee, S.Y.3    Kim, H.J.4    Cho, S.S.5    Park, J.H.6
  • 10
    • 9544252947 scopus 로고    scopus 로고
    • Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome
    • Maruo Y., D'Addario C., Mori A., Iwai M., Takahashi H., Sato H., and Takeuchi Y. Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome. Hum. Genet. 115 6 (2004) 525-526
    • (2004) Hum. Genet. , vol.115 , Issue.6 , pp. 525-526
    • Maruo, Y.1    D'Addario, C.2    Mori, A.3    Iwai, M.4    Takahashi, H.5    Sato, H.6    Takeuchi, Y.7
  • 11
    • 18444399926 scopus 로고    scopus 로고
    • Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia
    • 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. 292 2 (2002 Mar 29) 492-497
    • (2002) Biochem. Biophys. Res. Commun. , vol.292 , Issue.2 , pp. 492-497
    • Sugatani, J.1    Yamakawa, K.2    Yoshinari, K.3    Machida, T.4    Takagi, H.5    Mori, M.6
  • 12
    • 48949119333 scopus 로고    scopus 로고
    • Pharmacogenetics of Gilbert's syndrome
    • Strassburg C.P. Pharmacogenetics of Gilbert's syndrome. Pharmacogenomics 9 6 (2008) 703-715
    • (2008) Pharmacogenomics , vol.9 , Issue.6 , pp. 703-715
    • Strassburg, C.P.1
  • 13
    • 33745627504 scopus 로고    scopus 로고
    • Dallapiccola B. Combined test for UGT1A1-3279T > G and A(TA)nTAA polymorphisms best predicts Gilbert's syndrome in Italian pediatric patients
    • Ferraris A., D'Amato G., Nobili V., Torres B., and Marcellini M. Dallapiccola B. Combined test for UGT1A1-3279T > G and A(TA)nTAA polymorphisms best predicts Gilbert's syndrome in Italian pediatric patients. Genet. Test 10 2 (2006) 121-125
    • (2006) Genet. Test , vol.10 , Issue.2 , pp. 121-125
    • Ferraris, A.1    D'Amato, G.2    Nobili, V.3    Torres, B.4    Marcellini, M.5
  • 14
    • 2342459714 scopus 로고    scopus 로고
    • Genetic variants in the UDP-glucuronosyltransferase 1A1 gene predict the risk of severe neutropenia of irinotecan
    • Innocenti F., Undevia S.D., Iyer L., Chen P.X., Das S., Kocherginsky M., et al. Genetic variants in the UDP-glucuronosyltransferase 1A1 gene predict the risk of severe neutropenia of irinotecan. J. Clin. Oncol. 22 8 (2004 Apr 15) 1382-1388
    • (2004) J. Clin. Oncol. , vol.22 , Issue.8 , pp. 1382-1388
    • Innocenti, F.1    Undevia, S.D.2    Iyer, L.3    Chen, P.X.4    Das, S.5    Kocherginsky, M.6
  • 15
    • 21944434407 scopus 로고    scopus 로고
    • Genetic polymorphism in the phenobarbital-responsive enhancer module of the UDP-glucuronosyltransferase 1A1 gene and irinotecan toxicity
    • Kitagawa C., Ando M., Ando Y., Sekido Y., Wakai K., Imaizumi K., et al. Genetic polymorphism in the phenobarbital-responsive enhancer module of the UDP-glucuronosyltransferase 1A1 gene and irinotecan toxicity. Pharmacogenet. Genomics 15 1 (2005) 35-41
    • (2005) Pharmacogenet. Genomics , vol.15 , Issue.1 , pp. 35-41
    • Kitagawa, C.1    Ando, M.2    Ando, Y.3    Sekido, Y.4    Wakai, K.5    Imaizumi, K.6
  • 16
    • 0031719562 scopus 로고    scopus 로고
    • Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene: a common missense mutation among Japanese, Koreans and Chinese
    • 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. Mol. Biol. Int. 46 1 (1998) 21-26
    • (1998) Biochem. Mol. Biol. Int. , vol.46 , Issue.1 , pp. 21-26
    • Akaba, K.1    Kimura, T.2    Sasaki, A.3    Tanabe, S.4    Ikegami, T.5    Hashimoto, M.6
  • 17
    • 6544244602 scopus 로고    scopus 로고
    • Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese
    • 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. 44 1 (1999) 22-25
    • (1999) J. Hum. Genet. , vol.44 , Issue.1 , pp. 22-25
    • Akaba, K.1    Kimura, T.2    Sasaki, A.3    Tanabe, S.4    Wakabayashi, T.5    Hiroi, M.6
  • 18
    • 17044432138 scopus 로고    scopus 로고
    • Heterozygous G71R-mutation causing Gilbert's syndrome in one of 103 random persons of German descent
    • Sava M., and Kraemer D.M. Heterozygous G71R-mutation causing Gilbert's syndrome in one of 103 random persons of German descent. J. Hepatol. 42 5 (2005) 778-779
    • (2005) J. Hepatol. , vol.42 , Issue.5 , pp. 778-779
    • Sava, M.1    Kraemer, D.M.2
  • 19
    • 8544224973 scopus 로고    scopus 로고
    • The UDP glycosyltransferase gene superfamily: recommended nomenclature update based on evolutionary divergence
    • Mackenzie P.I., Owens I.S., Burchell B., Bock K.W., Bairoch A., Bélanger A., et al. The UDP glycosyltransferase gene superfamily: recommended nomenclature update based on evolutionary divergence. Pharmacogenetics 7 4 (1997) 255-269
    • (1997) Pharmacogenetics , vol.7 , Issue.4 , pp. 255-269
    • Mackenzie, P.I.1    Owens, I.S.2    Burchell, B.3    Bock, K.W.4    Bairoch, A.5    Bélanger, A.6
  • 20
    • 0003311125 scopus 로고
    • Modification of the Malloy-Evelyn method for a simple, reliable determination of total bilirubin in serum [Abstract]
    • Wahlefeld A.W., Herz G., and Bernt E. Modification of the Malloy-Evelyn method for a simple, reliable determination of total bilirubin in serum [Abstract]. Scand. J. Clin. Lab. Invest. 29 Suppl 126 (1972) 11-12
    • (1972) Scand. J. Clin. Lab. Invest. , vol.29 , Issue.SUPPL. 126 , pp. 11-12
    • Wahlefeld, A.W.1    Herz, G.2    Bernt, E.3
  • 21
    • 0036284203 scopus 로고    scopus 로고
    • Testing association of statistically inferred haplotypes with discrete and continuous traits in samples of unrelated individuals
    • Zaykin D.V., Westfall P.H., Young S.S., Karnoub M.A., Wagner M.J., and Ehm M.G. Testing association of statistically inferred haplotypes with discrete and continuous traits in samples of unrelated individuals. Hum. Hered. 53 (2002) 79-91
    • (2002) Hum. Hered. , vol.53 , pp. 79-91
    • Zaykin, D.V.1    Westfall, P.H.2    Young, S.S.3    Karnoub, M.A.4    Wagner, M.J.5    Ehm, M.G.6
  • 22
    • 34250629236 scopus 로고    scopus 로고
    • UGT1A1 polymorphism can predict hematologic toxicity in patients treated with irinotecan
    • Coté J.F., Kirzin S., Kramar A., Mosnier J.F., Diebold M.D., Soubeyran I., et al. UGT1A1 polymorphism can predict hematologic toxicity in patients treated with irinotecan. Clin. Cancer Res. 13 (2007) 3269-3275
    • (2007) Clin. Cancer Res. , vol.13 , pp. 3269-3275
    • Coté, J.F.1    Kirzin, S.2    Kramar, A.3    Mosnier, J.F.4    Diebold, M.D.5    Soubeyran, I.6
  • 25
    • 27444441030 scopus 로고    scopus 로고
    • The polymorphism c.-3279T > G in the phenobarbital-responsive enhancer module of the bilirubin UDP-glucuronosyltransferase gene is associated with Gilbert syndrome
    • Costa E., Vieira E., and Dos Santos R. 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 11 (2005) 2204-2206
    • (2005) Clin. Chem. , vol.51 , Issue.11 , pp. 2204-2206
    • Costa, E.1    Vieira, E.2    Dos Santos, R.3
  • 26
    • 33751006708 scopus 로고    scopus 로고
    • Linkage between A(TA)7TAA and -3279T > G mutations in UGT1A1 is not essential for pathogenesis of Gilbert syndrome
    • Jirsa M., Petrasek J., and Vitek L. Linkage between A(TA)7TAA and -3279T > G mutations in UGT1A1 is not essential for pathogenesis of Gilbert syndrome. Liver Int. 26 10 (2006) 1302-1303
    • (2006) Liver Int. , vol.26 , Issue.10 , pp. 1302-1303
    • Jirsa, M.1    Petrasek, J.2    Vitek, L.3
  • 27


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.