Genome-wide association meta-analysis for total serum bilirubin levels

Human Molecular Genetics

Volumn 18, Issue 14, 2009, Pages 2700-2710

  Johnson, Andrew D ^a   Kavousi, Maryam ^b,c   Smith, Albert V ^d   Chen, Ming Huei ^a,e   Dehghan, Abbas ^b   Aspelund, Thor ^d,f   Lin, Jing Ping ^g   van Duijn, Cornelia M ^b   Harris, Tamara B ^h   Cupples, L Adrienne ⁱ   Uitterlinden, Andre G ^b   Launer, Lenore ^h   Hofman, Albert ^b   Rivadeneira, Fernando ^b   Stricker, Bruno ^b,j   Yang, Qiong ⁱ   O'Donnell, Christopher J ^a,k   Gudnason, Vilmundur ^d,f   Witteman, Jacqueline C ^b,c  

^a FRAMINGHAM HEART STUDY   (United States)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c NETHERLANDS GENOMICS INITIATIVE   (Netherlands)

^d ICELANDIC HEART ASSOCIATION   (Iceland)

^e BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF ICELAND   (Iceland)

^g NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^h Gene/Environment Susceptibility Study   (Iceland)

ⁱ BOSTON UNIVERSITY SCHOOL OF PUBLIC HEALTH   (United States)

^j Inspectorate of Health Care   (Netherlands)

^k MASSACHUSETTS GENERAL HOSPITAL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; BILIRUBIN; GLUCURONOSYLTRANSFERASE 1A1; GLUTATHIONE TRANSFERASE; ORGANIC ANION TRANSPORTER 2; VALINE;

AMINO ACID SUBSTITUTION; ARTICLE; BILIRUBIN BLOOD LEVEL; BINDING AFFINITY; CHOLELITHIASIS; CHROMOSOME 12P; DISEASE ASSOCIATION; FEMALE; GALLBLADDER DISEASE; GENE ACTIVITY; GENE LOCUS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN EXPERIMENT; MALE; PRIORITY JOURNAL; PROTEIN BINDING; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; BILIRUBIN; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; GLUCURONOSYLTRANSFERASE; HUMANS; MALE; MIDDLE AGED; NETHERLANDS; ORGANIC ANION TRANSPORTERS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROSPECTIVE STUDIES;

EID: 67649838598     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddp202     Document Type: Article

References (39)

1. Stocker, R., Yamamoto, Y., McDonagh, A. and Glazer, A. (1987) Bilirubin is an anti-oxidant of possible physiological importance. Science, 235, 1043-1046.
2. Wu, T.W., Fung, K.P., Wu, J., Yang, C.C. and Weisel, R.D. (1996) Antioxidation of human low density lipoprotein by unconjugated and conjugated bilirubins. Biochem. Pharm., 51, 859-862.
3. Schwertner, H.A., Jackson, W.G. and Tolan, G. (1994) Association of low serum concentration of bilirubin with increased risk of coronary artery disease. Clin. Chem., 40, 18-23.
4. Hunt, S.C., Kronenberg, F., Eckfeldt, J.H., Hopkins, P.R., Myers, R.H. and Heiss, G. (2001) Association of plasma bilirubin with coronary heart disease and segregation of bilirubin as a major gene trait: The NHLBI family heart study. Atherosclerosis, 154, 747-754.
5. Djousse, L., Levy, D., Cupples, L.A., Evans, J.C., D'Agostino, R.B. and Ellison, R.C. (2001) Total serum bilirubin and risk of cardiovascular disease in the Framingham Offspring study. Am. J. Card., 87, 1196-1200.
6. Novotny, L. and Vitek, L. (2003) Inverse relationship between serum bilirubin and atherosclerosis in men. A meta-analysis of published studies. Exp. Biol. Med., 228, 568-571.
7. Kronenburg, F., Coon, H., Gutin, A., Abkevich, V., Samuels, M.E., Ballinger, D.G., Hopkins, P.N. and Hunt, S.C. (2002) A genome scan for loci influencing anti-atherogenic serum bilirubin levels. Eur. J. Hum. Gen., 10, 539-546.
8. Lin, J.P., Cupples, L.A., Wilson, P.W.F., 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. Gen., 72, 1029-1034.
9. Clementi, M., Di Gianantonio, E., Fabris, L., Forabosco, P., Strazzabosco, M., Tenconi, R. and Okolicsanyi, L. (2007) Inheritance of hyperbilirubinemia: Evidence for a major autosomal recessive gene. Dig. Liv. Dis., 39, 351-355.
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.F. et al. (1995) The genetic basis of the reduced expression on bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N. Engl. J. Med., 333, 1171-1175.
11. Bosma, P.J., van der Meer, I.M., Bakker, C.T., Hofman, A., Paul-Abrahamse, M. and Witteman, J.C. (2003) UGT1A1*28 allele and coronary heart disease: The Rotterdam study. Clin. Chem., 49 1180-1181.
12. Lin, J.P., O'Donnell, C.J., Schwaiger, J.P., Cupples, L.A., Lingenhel, A., Hunt, S.C., Yang, S. and Kronenberg, F. (2006) Association between the UGT1A1°28 allele, bilirubin levels, and coronary heart disease in the Framingham Heart Study. Circulation, 114, 1476-1481.
13. Perera, M.A., Innocenti, F. and Ratain, M.J. (2008) Pharmacogenetic testing for uridine diphosphate glucuronosyltransferase 1A1 polymorphisms: Are we there yet? Pharmacotherapy, 28, 755-768.
14. Kama, N.A., Atli, M., Doganay, M., Kologlu, M., Reis, E. and Dolapci, M. (2001) Practical recommendations for the predication and management of common bile duct stones in patients with gallstones. Surg. Endosc. 15, 942-945.
15. Vasavda, N., Menzel, S., Kondaveeti, S., Maytham, E., Awogbade, M., Bannister, S., Cunningham, J., Eichholz, A., Daniel, Y., Okpala, I. et al. (2007) The linear effects of α-thalassameia, the UGT1A1 and HMOX1 polymorphisms on cholelthiasis in sickle cell disease. Br. J. Heamatology, 138, 263-270.
16. Smith, N.F., Figg, W.D. and Sparreboom, A. (2005) Role of the liver-specific transporters OATP1B1 and OATP1B3 in governing drug elimination. Expert Opin. Drug. Metab. Toxicol., 1, 429-445.
17. Cui, Y., Konig, J., Leier, I., Buchholz, U. and Keppler, D. (2001) Hepatic uptake of bilirubin and its conjugates by the human organic anion transporter SLC21A6. J. Biol. Chem., 276, 9626-9630.
18. Briz, O., Serrano, M.A., Macias, R.I., Gonzalez-Gallego, J. and Marin, J.J. (2003) Role of organic anion-transporting polypeptides, OATP-A, OATP-C and OATP-8, in the human placenta-maternal liver tandem excretory pathway for foetal bilirubin. Biochem. J., 371, 897-905.
19. 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. Pharm. Gen. Gen., 15, 43-50.
20. 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. Hep. Res., 30, 91-95.
21. 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. Phys. 34, 1240-1244.
22. Pasanen, M.K., Neuvonen, P.J. and Niemi, M. (2008) Global analysis of genetic variation in SLCO1B1. Pharmacogenomics, 9, 19-33.
23. SEARCH collaborative group, Link, E., Parish, S., Armitage, J., Bowman, L., Heath, S., Matsuda, F., Gut, I., Lathrop, M., Collins, R. et al. (2008) SLCO1B1 variants and statin-induced myopathy - a genomewide study. N. Engl. J. Med., 359, 1-11.
24. 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, 2938-2938.
25. Lee, W., Glaeser, H., Smith, L.H., Roberts, R.L., Moeckel, G.W., Gervasini, G., Leake, B.F. and Kim, R.B. (2005) Polymorphisms in human organic anion-transporting polypeptide 1A2 (OATP1A2). J. Biol. Chem. 280, 9610-9617.
26. NCI-NHGRI Working Group on Replication in Association Studies, Chanock, S.J., Manolio, T., Boehnke, M., Boerwinkle, E., Hunter, D.J., Thomas, G., Hirschhorn, J.N., Abecasis, G., Altshuler, D. et al. (2007) Replicating genotype-phenotype associations. Nature, 447, 655-660.
27. Reece, M., Prawitt, D., Landers, J., Kast, C., Gros, P., Housman, D., Zabel, B.U. and Pelletier, J. (1998) Functional characterization of ORCTL2 - an organic cation transporter expressed in the renal proximal tubules. FEBS Lett., 433, 245-250.
28. Tzortaki, E.G., Yang, M., Glass, D., Deng, L., Evan, A.P., Bledsoe, S.B., Stambrook, P.J., Sahota, A. and Tischfield, J.A. (2003) Impaired expression of an organic cation transporter, IMPT1, in a knockout mouse model for kidney stone disease. Urol. Res., 31, 257-261.
29. Schadt, E.E., Molony, C., Chudin, E., Hao, K., Yang, X., Lum, P.Y., Karsarkis, A., Zhang, B., Wang, S., Suver, C. et al. (2008) Mapping the genetic architecture of gene expression in human liver. PLos Biol., 6, 1020-1032.
30. Carlton, V.E., Harris, B.Z., Puffenberger, E.G., Batta, A.K., Knisely, A.S., Robinson, D.L., Strauss, K.A., Shneider, B.L., Lim, W.A., Salen, G. et al. (2003) Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. Nat. Genet., 34, 91-96.
31. Psaty, B.M., O'Donnell, C.J., Gudnason, V., Lunetta, K.L., Folsom, A.R., Rotter, J.I., Uitterlinden, A.G., Harris, T.B., Witteman, J.C.M. and Boerwinkle, E.on behalf of the CHARGE Consortium (2009) Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium: design of prospective meta-analyses of genome-wide association studies from 5 cohorts. Circ. Cardio. Gen., 2, 73-80.
32. Feinleib, M., Kannel, W., Garrison, R., McNamara, P. and Castelli, W. (1975) The Framingham Offspring Study: Design and preliminary data. Prev. Med., 4, 518-525.
33. Walters, M.I. and Gerarde, H.W. (1970) An ultramicromethod for the determination of conjugated and total bilirubin in serum or plasma. Microchem. J., 15, 231-243.
34. Hofman, A., Breteler, M.M., van Duijn, C.M., Krestin, G.P., Pols, H.A., Stricker, B.H., Tiemeier, H., Uitterlinden, A.G., Vingerling, J.R. and Witteman, J.C. (2007) The Rotterdam Study: Objectives and design update. Eur. J. Epidemiol., 22, 819-829.
35. Kelly, A., McKenna, J.P., McLelland, A., Percy, R.A. and Spooner, R.J. (1979) A bichromatic method for total bilirubin with a CentrifiChem 400. Clin. Chem., 25, 1482-1484.
36. Gambino, S.R. and Schreiber, H. (1964) Automation in Analytical Chemistry, Technicon Symposia, New York, NY.
37. Li, Y. and Abecasis, G. (2006) MACH 1.0: Rapid haplotype reconstruction and missing genotype inference. Am. J. Hum. Genet., S79, 2290.
38. Cupples, L.A., Arruda, H.T., Benjamin, E.J., D'Agostino, R.B., Demissie, S., DeStefano, A.L., Dupuis, J., Falls, K.M., Fox, C.S., Gottlieb, D.J. et al. (2007) The Framingham Heart Study 100K SNP genome-wide association study resource: Overview of 17 phenotype working group reports. BMC Med. Genet., 8, S1.
39. Price, A.L., Patterson, N.J., Plenge, R.M., Weinblatt, M.E., Shadick, N.A. and Reich, D. (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nat. Genet., 38, 904-909.