Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia

Human Molecular Genetics

Volumn 18, Issue 14, 2009, Pages 2711-2718

  Sanna, Serena ^a   Busonero, Fabio ^a   Maschio, Andrea ^a   McArdle, Patrick F ^b   Usala, Gianluca ^a   Dei, Mariano ^a   Lai, Sandra ^a   Mulas, Antonella ^a   Piras, Maria Grazia ^a   Perseu, Lucia ^a   Masala, Marco ^a   Marongiu, Mara ^a   Crisponi, Laura ^a   Naitza, Silvia ^a   Galanello, Renzo ^c   Abecasis, Gonçalo R ^d   Shuldiner, Alan R ^b,e   Schlessinger, David ^f   Cao, Antonio ^a   Uda, Manuela ^a  

^a CNR   (Italy)

^b UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF CAGLIARI   (Italy)

^d UNIVERSITY OF MICHIGAN   (United States)

^e BALTIMORE VA MEDICAL CENTER   (United States)

^f NATIONAL INSTITUTE ON AGING   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BILIRUBIN; BILIRUBIN GLUCURONIDE; CARRIER PROTEIN; GLUCOSE 6 PHOSPHATE DEHYDROGENASE; GLUCURONOSYLTRANSFERASE 1A1; SLCO1B3 PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; BILIRUBIN BLOOD LEVEL; CHROMOSOME 12; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC REGULATION; GENETIC VARIABILITY; GILBERT DISEASE; HOMOZYGOSITY; HUMAN; HYPERBILIRUBINEMIA; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BILIRUBIN; FEMALE; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; HYPERBILIRUBINEMIA; ITALY; MALE; MIDDLE AGED; ORGANIC ANION TRANSPORTERS, SODIUM-INDEPENDENT;

EID: 67649851008     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddp203     Document Type: Article

References (24)

1. Hagenbuch, B. and Gui, C. (2008) Xenobiotic transporters of the human organic anion transporting polypeptides (OATP) family. Xenobiotica 38, 778-801.
2. 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., 2, 1171-1175.
3. 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 MRP2. Biochem. J., 327, 305-310.
4. Pilia, G., Chen, W.M., Scuteri, A., Orrú, M., Albai, G., Dei, M., Lai, S., Usala, G., Lai, M., Loi, P. et al. (2006) Heritability of cardiovascular and personality traits in 6,148 Sardinians. PLoS Genet., 2, e132. doi:10.1371/journal.pgen.0020132.
5. Scuteri, A., Sanna, S., Chen, W.M., Uda, M., Albai, G., Strait, J., Najjar, S., Nagaraja, R., Orru', M., Usala, G. et al. (2007) Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits. PLoS Genet., 3, e115.
6. Van Es, H.H., Bout, A., Liu, J., Anderson, L., Duncan, A.M., Bosma, P., Oude Elferink, R., Jansen, P.L., Chowdhury, J.R. and Schurr, E. (1993) Assignment of the human UDP glucuronosyltransferase gene (UGT1A1) to chromosome region 2q37. Cytogenet. Cell. Genet., 63, 114-116.
7. König, J., Cui, Y., Nies, A.T. and Keppler, D. (2000) Localization and genomic organization of a new hepatocellular organic anion transporting polypeptide. J. Biol. Chem., 275, 23161-23168.
8. Galanello, R., Perseu, L., Melis, M.A., Cipollina, L., Barella, S., Giagu, N., Turco, M.P., Maccioni, O. and Cao, A. (1997) Hyperbilirubinemia in heterozygous beta-thalassaemia in related to co-inherited Gilbert's syndrome. Br. J. Haematol., 99, 433-436.
9. Iolascon, A., Faienza, M.F., Perrotta, S., Meloni, G.F., Ruggiu, G. and del Giudice, E.M. (1999) Gilbert's syndrome and jaundice in glucose-6-phosphate dehydrogenase deficient neonates. Haematologica 84, 99-102.
10. Arnaud-Lopez, L., Usala, G., Ceresini, G., Mitchell, B.D., Pilia, M.G., Piras, M.G., Sestu, N., Maschio, A., Busonero, F., Albai, G. et al. (2008) Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function. Am. J. Hum. Genet., 82, 1270-1280.
11. Mitchell, B.D., McArdle, P.F., Shen, H., Rampersaud, E., Pollin, T.I., Bielak, L.F., Jaquish, C., Douglas, J.A., Roy-Gagnon, M.H., Sack, P. et al. (2008) The genetic response to short-term interventions affecting cardiovascular function: Rationale and design of the Heredity and Phenotype Intervention (HAPI) Heart Study. Am. Heart J., 155, 823-828.
12. Abe, T., Kakyo, M., Tokui, T., Nakagomi, R., Nishio, T., Nakai, D., Nomura, H., Unno, M., Suzuki, M., Naitoh, T. et al. (1999) Identification of a novel gene family encoding human liver-specific organic anion transporter LST-1. J. Biol. Chem., 274, 17159-17163.
13. Konug, J., Cui, Y., Nies, A.T. and Kepplera, D. (2000) Novel human organic anion transporting polypeptide localized to the basolateral hepatocyte membrane. Am. J. Physiol. Gastrointest. Liver Physiol., 278, 156-164.
14. 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.
15. Nozawa, T., Nakajima, M., Tamai, I., Noda, K., Nezu, J., Sai, Y., Tsuji, A. and Yokoi, T. (2002) Genetic polymorphisms of human organic anion transporters OATP-C (SLC21A6) and OATP-B (SLC21A9): Allele frequencies in the Japanese population and functional analysis. J. Pharmacol. Exp. Ther., 302, 804-813.
16. The International HapMap Consortium (2007) A second generation human haplotype map of over 3.1 million SNPs. Nature, 449, 851-861.
17. Sanna, S., Jackson, A.U., Nagaraja, R., Willer, C.J., Chen, W.M., Bonnycastle, L.L., Shen, H., Timpson, N., Lettre, G., Usala, G. et al. (2008) Association of human height with genetic variants in the GDF5 - BFZB locus: Genome-wide scans and replication. Nat. Genet., 40, 198-203.
18. Cappellini, M.D., Martinez di Montemuros, F., Sampietro, M., Tavazzi, D. and Fiorelli, G. (1999) The interaction between Gilbert's syndrome and G6PD deficiency influences bilirubin levels. Br. J. Haematol., 104, 928-929.
19. Cui, Y., König, 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.
20. Trauner, M., Arrese, M., Soroka, C.J., Ananthanarayanan, M., Koeppel, T.A., Schlosser, S.F., Suchy, F.J., Keppler, D. and Boyer, J.L. (1997) The rat canalicular conjugate export pump (Mrp2) is down-regulated in intrahepatic and obstructive cholestasis. Gastroenterology, 113 255-264.
21. Origa, R., Galanello, R., Perseu, L., Tavazzi, D., Domenica Cappellini, M., Terenzani, L., Forni, G.L., Quarta, G., Boetti, T. and Piga, A. (2009) Cholelithiasis in thalassemia major. Eur. J. Haematol., 82, 22-25.
22. Abecasis, G.R., Cherny, S.S., Cookson, W.O. and Cardon, L.R. (2002) Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat. Genet., 30, 97-101.
23. Lander, E.S. and Green, P. (1987) Construction of multilocus genetic linkage maps in humans. Proc. Natl. Acad. Sci. USA, 84, 2363-2367.
24. Chen, W-M. and Abecasis, G.R. (2007) Family based association tests for genome wide association scans. Am. J. Hum. Genet., 81, 913-926.