Genome-wide association of serum bilirubin levels in Korean population

Human Molecular Genetics

Volumn 19, Issue 18, 2010, Pages 3672-3678

  Kang, Tae Wook ^a   Kim, Hee Jin ^a,b   Ju, Hyoungseok ^a   Kim, Jeong Hwan ^a   Jeon, Yeo Jin ^a   Lee, Han Chul ^a   Kim, Ka Kyung ^c   Kim, Jong Won ^c   Lee, Siwoo ^d   Kim, Jong Yeol ^d   Kim, Seon Young ^a   Kim, Yong Sung ^a,b  

^a Korea Research Institute of Bioscience and Biotechnology (KRIBB)   (South Korea)

^b University of Science and Technology (UST)   (South Korea)

^c Sungkyunkwan University School of Medicine   (South Korea)

^d Korea Institute of Oriental Medicine (KIOM)   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

BILIRUBIN; GLUCURONOSYLTRANSFERASE 1A1; MEMBRANE PROTEIN; SLCO1B3 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BILIRUBIN BLOOD LEVEL; COHORT ANALYSIS; ETHNIC DIFFERENCE; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE REPLICATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; PROTEIN VARIANT; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ASIAN CONTINENTAL ANCESTRY GROUP; BILIRUBIN; COHORT STUDIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; GLUCURONOSYLTRANSFERASE; HUMANS; MALE; MIDDLE AGED; ORGANIC ANION TRANSPORTERS, SODIUM-INDEPENDENT; POLYMORPHISM, SINGLE NUCLEOTIDE; YOUNG ADULT;

EID: 77956154650     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddq281     Document Type: Article

References (23)

1. Alexandra Brito, M., Silva, R.F. and Brites, D. (2006) Bilirubin toxicity to human erythrocytes: a review. Clin. Chim. Acta, 374, 46-56.
2. Hagenbuch, B. and Gui, C. (2008) Xenobiotic transporters of the human organic anion transporting polypeptides (OATP) family. Xenobiotica, 38, 778-801.
3. Ritter, J.K., Crawford, J.M. and Owens, I.S. (1991) Cloning of two human liver bilirubin UDP-glucuronosyltransferase cDNAs with expression in COS-1 cells. J. Biol. Chem., 266, 1043-1047.
4. Jedlitschky, G., Leier, I., Buchholz, U., Hummel-Eisenbeiss, J., Burchell, B. and Keppler, D. (1997) ATP-dependent transport of bilirubin glucuronides by the multidrug resistance protein MRP1 and its hepatocyte canalicular isoform MRPBiochem. J., 327 (Pt 1), 305-310.
5. Jansen, P.L., Bosma, P.J. and Chowdhury, J.R. (1995) Molecular biology of bilirubin metabolism. Prog. Liver Dis., 13, 125-150.
6. Sorich, M.J., Miners, J.O., McKinnon, R.A. and Smith, P.A. (2004) Multiple pharmacophores for the investigation of human UDP-glucuronosyltransferase isoform substrate selectivity. Mol. Pharmacol., 65, 301-308.
7. Zhang, W., He, Y.J., Gan, Z., Fan, L., Li, Q., Wang, A., Liu, Z.Q., Deng, S., Huang, Y.F., Xu, L.Y. et al. (2007) OATP1B1 polymorphism is a major determinant of serum bilirubin level but not associated with rifampicin-mediated bilirubin elevation. Clin. Exp. Pharmacol. Physiol., 34, 1240-1244.
8. Mackenzie, P.I., Owens, I.S., Burchell, B., Bock, K.W., Bairoch, A., Belanger, A., Fournel-Gigleux, S., Green, M., Hum, D.W., Iyanagi, T. et al. (1997) The UDP glycosyltransferase gene superfamily: recommended nomenclature update based on evolutionary divergence. Pharmacogenetics, 7, 255-269.
9. Lin, J.P., Cupples, L.A., Wilson, P.W., Heard-Costa, N. and O'Donnell, C.J. (2003) Evidence for a gene influencing serum bilirubin on chromosome 2q telomere: a genomewide scan in the Framingham study. Am. J. Hum. Genet., 72, 1029-1034.
10. Bosma, P.J., Chowdhury, J.R., Bakker, C., Gantla, S., de Boer, A., Oostra, B.A., Lindhout, D., Tytgat, G.N., Jansen, P.L., Oude Elferink, R.P. et al. (1995) The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N. Engl. J. Med., 333, 1171-1175.
11. Maruo, Y., Wada, S., Yamamoto, K., Sato, H., Yamano, T. and Shimada, M. (1999) A case of anorexia nervosa with hyperbilirubinaemia in a patient homozygous for a mutation in the bilirubin UDP-glucuronosyltransferase gene. Eur. J. Pediatr., 158, 547-549.
12. Sanna, S., Busonero, F., Maschio, A., McArdle, P.F., Usala, G., Dei, M., Lai, S., Mulas, A., Piras, M.G., Perseu, L. et al. (2009) Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia. Hum. Mol. Genet., 18, 2711-2718
13. Johnson, A.D., Kavousi, M., Smith, A.V., Chen, M.H., Dehghan, A., Aspelund, T., Lin, J.P., van Duijn, C.M., Harris, T.B., Cupples, L.A. et al. (2009) Genome-wide association meta-analysis for total serum bilirubin levels. Hum. Mol. Genet., 18, 2700-2710.
14. Jinno, H., Tanaka-Kagawa, T., Hanioka, N., Saeki, M., Ishida, S., Nishimura, T., Ando, M., Saito, Y., Ozawa, S. and Sawada, J. (2003) Glucuronidation of 7-ethyl-10-hydroxycamptothecin (SN-38), an active metabolite of irinotecan (CPT-11), by human UGT1A1 variants, G71R, P229Q, and Y486D. Drug. Metab. Dispos., 31, 108-113.
15. Urawa, N., Kobayashi, Y., Araki, J., Sugimoto, R., Iwasa, M., Kaito, M. and Adachi, Y. (2006) Linkage disequilibrium of UGT1A1 6 and UGT1A1 28 in relation to UGT1A6 and UGT1A7 polymorphisms. Oncol. Rep., 16, 801-806.
16. Huang, C.S., Huang, M.J., Lin, M.S., Yang, S.S., Teng, H.C. and Tang, K.S. (2005) Genetic factors related to unconjugated hyperbilirubinemia amongst adults. Pharmacogenet. Genomics, 15, 43-50.
17. Ieiri, I., Suzuki, H., Kimura, M., Takane, H., Nishizato, Y., Irie, S., Urae, A., Kawabata, K., Higuchi, S., Otsubo, K. et al. (2004) Influence of common variants in the pharmacokinetic genes (OATP-C, UGT1A1, and MRP2) on serum bilirubin levels in healthy subjects. Hepatol. Res., 30, 91-95.
18. Cho, Y.S., Go, M.J., Kim, Y.J., Heo, J.Y., Oh, J.H., Ban, H.J., Yoon, D., Lee, M.H., Kim, D.J., Park, M. et al. (2009) A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits. Nat. Genet., 41, 527-534.
19. Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M.A., Bender, D., Maller, J., Sklar, P., de Bakker, P.I., Daly, M.J. et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet., 81, 559-575.
20. Ge, D., Zhang, K., Need, A.C., Martin, O., Fellay, J., Urban, T.J., Telenti, A. and Goldstein, D.B. (2008) WGAViewer: software for genomic annotation of whole genome association studies. Genome Res., 18, 640-643.
21. Barrett, J.C., Fry, B., Maller, J. and Daly, M.J. (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics, 21, 263-265.
22. Johnson, A.D., Handsaker, R.E., Pulit, S.L., Nizzari, M.M., O'Donnell, C.J. and de Bakker, P.I. (2008) SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap. Bioinformatics, 24, 2938-2939.
23. Cheng, F., Chen, W., Richards, E., Deng, L. and Zeng, C. (2009) SNP@Evolution: a hierarchical database of positive selection on the human genome. BMC Evol. Biol., 9, 221.