Genetic variations of the SLC22A4 gene in Chinese and Indian populations of Singapore

Drug Metabolism and Pharmacokinetics

Volumn 24, Issue 5, 2009, Pages 475-481

  Toh, Dorothy Su Lin ^a   Koo, Seok Hwee ^a   Limenta, Lie Michael George ^a   Yee, Jie Yin ^a   Murray, Michael ^b   Lee, Edmund Jon Deoon ^a  

^a NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^b UNIVERSITY OF SYDNEY   (Australia)

Author keywords

Clinical pharmacology; Human genetics; OCTN1; Pharmacogenetics; Single nucleotide polymorphism; SLC22 transporters

Indexed keywords

ARGININE; ASPARAGINE; GENOMIC DNA; GLYCINE; HISTIDINE; ISOLEUCINE; LYSINE; METHIONINE; ORGANIC CATION TRANSPORTER 1; PROLINE; THREONINE;

AMINO ACID SUBSTITUTION; ARTICLE; CHINESE; DNA SEQUENCE; EXON; GENETIC VARIABILITY; HUMAN; HUMAN EXPERIMENT; INDIAN; NORMAL HUMAN; NUCLEOTIDE SEQUENCE; POPULATION GENETICS; PROTEIN SECONDARY STRUCTURE; SINGAPORE;

EID: 71449106124     PISSN: 13474367     EISSN: 18800920     Source Type: Journal    
DOI: 10.2133/dmpk.24.475     Document Type: Article

References (21)

1. Pao, S. S., Paulsen, I. T. and Saier Jr. M. H.: Major facilitator superfamily. Microbiol. Mol. Biol. Rev., 62: 1-34 (1998).
2. Koepsell, H. and Endou, H.: The SLC22 drug transporter family. Pflugers Arch-Eur. J. Physiol., 447: 666-676 (2004).
3. Koepsell, H., Lips, K. and Volk, C.: Polyspecific organic cation transporters: structure, function, physiological roles, and biopharmaceutical implications. Pharm. Res., 24: 1227-1251 (2007).
4. Yabuuchi, H., Tamai, I., Nezu, J., Sakamoto, K., Oku, A., Shimane, M., Sai, Y. and Tsuji, A.: Novel membrane transporter OCTN1 mediates multispecific, bidirectional, and pH-dependent transport of organic cations. J. Pharmacol. Exp. Ther., 289: 768-773 (1999).
5. Kawasaki, Y., Kato, Y., Sai, Y. and Tsuji, A.: Functional characterization of human organic cation transporter OCTN1 single nucleotide polymorphisms in the Japanese population. J. Pharm. Sci., 93: 2920-2926 (2004).
6. Tamai, I., Yabuuchi, H., Nezu, J., Sai, Y., Oku, A., Shimane, M. and Tsuji, A.: Cloning and characterization of a novel human pH-dependent organic cation transporter, OCTN1. FEBS Lett., 419: 107-111 (1997).
7. Taubert, D., Jung, N., Goeser, T. and Schomig, E.: Increased ergothioneine tissue concentrations in carriers of the Crohn's disease risk-associated 503F variant of the organic cation transporter OCTN1. Gut, 58: 312-314 (2009).
8. Gruendemann, D., Harlfinger, S., Golz, S., Geerts, A., Lazar, A., Berkels, R., Jung, N., Rubbert, A. and Schoemig, E.: Discovery of the ergothioneine transporter. Proc. Natl. Acad. Sci. U.S.A., 102: 5256-5261 (2005).
9. Marzolini, C. and Kim, R. B.: Placental Transfer of Antiretroviral Drugs. Clinical. Pharmacol. Ther., 78: 118-122 (2005).
10. Lamhonwah, A-M. and Tein, I.: Novel localization of OCTN1, an organic cation/ carnitine transporter, to mammalian mitochondria. Biochem. Biophys. Res. Commun., 345: 1315-1325 (2006).
11. Tokuhiro, S., Yamada, R., Chang, X., Suzuki, A., Kochi, Y., Sawada, T., Suzuki, M., Nagasaki, M., Ohtsuki, M., Ono, M., Furukawa, H., Nagashima, M., Yoshino, S., Mabuchi, A., Sekine, A., Saito, S., Takahashi, A., Tsunoda, T., Nakamura, Y. and Yamamoto, K.: An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis. Nat. Genet., 35: 341-348 (2003).
12. Urban, T. J., Yang, C., Lagpacan, L. L., Brown, C., Castro, R. A., Taylor, T. R., Huang, C. C., Stryke, D., Johns, S. J., Kawamoto, M., Carlson, E. J., Ferrin, T. E., Burchard, E. G. and Giacomini, K. M.: Functional effects of protein sequence polymorphisms in the organic cation/ergothioneine transporter OCTN1 (SLC22A4). Pharmacogenet. Genomics, 17: 773-782 (2007).
13. Urban, T. J., Brown, C., Castro, R. A., Shah, N., Mercer, R., Huang, Y., Brett, C. M., Burchard, E. G. and Giacomini, K. M.: Effects of genetic variation in the novel organic cation transporter, OCTN1, on the renal clearance of gabapentin. Clin. Pharmacol. Ther., 83: 416-421 (2008).
14. Kawasaki, Y., Kato, Y., Sai, Y. and Tsuji, A.: Functional characterization of human organic cation transporter OCTN1 single nucleotide polymorphisms in the Japanese population. J. Pharm. Sci., 93: 2920-2926 (2004).
15. Okabe, M., Szaka, G., Reimers, M. A., Suzuki, T., Hall, M. D., Abe, T., Weinstein, J. N. and Gottesman M. M.: Profiling SLCO and SLC22 genes in the NCI-60 cancer cell lines to identify drug uptake transporters. Mol. Cancer. Ther., 7: 3081-3091 (2008).
16. Peltekova, V. D., Wintle, R. F., Rubin, L. A., Amos, C. I., Huang, Q., Gu, X., Newman, B., Van Oene, M., Cescon, D., Greenberg, G., Griffiths, A. M., St George-Hyslop, P.H. and Siminovitch, K.A.: Functional variants of OCTN cation transporter genes are associated with Crohn disease. Nat. Genet., 36: 471-475 (2004).
17. Santiago, J. L., Martinez, A., de la Calle, H., Fernandez-Arquero, M., Figueredo, M. A., de la Concha, E. G. and Urcelay, E.: Evidence for the association of the SLC22A4 and SLC22A5 genes with Type 1 Diabetes: a case control study. BMC Med. Genet., 7: 54 (2006).
18. Tanaka, K., Xu, W., Zhou, F. and You, G.: Role of glycosylation in the organic anion transporter OAT1. J. Biol. Chem., 279: 14961-14966 (2004).
19. Saito, S., Iida, A., Sekine, A., Ogawa, C., Kawauchi, S., Higuchi, S. and Nakamura, Y.: Catalog of 238 variations among six human genes encoding solute carriers (hSLCs) in the Japanese population. J. Hum. Genet., 47: 576-584 (2002).
20. The International HapMap Consortium: The International Hap-Map Project. Nat., 426: 789-796 (2003).
21. Strachan, T. and Read, A.: Human Molecular Genetics 3rd ed., London, Garland Science, pp. 334-336, 2004.