Protein Tyrosine Phosphatase N1 Gene Variants Associated with Type 2 Diabetes Mellitus and Its Related Phenotypes in the Korean Population |
Hong, Kyung-Won
(Biomedical Education Center, Department of Biomedical Engineering, School of Medicine, KyungHee University)
Jin, Hyun-Seok (Biomedical Education Center, Department of Biomedical Engineering, School of Medicine, KyungHee University) Lim, Ji-Eun (Biomedical Education Center, Department of Biomedical Engineering, School of Medicine, KyungHee University) Ryu, Ha-Jung (Center for Genome Science, National Institute of Health) Ahn, Youn-Jhin (Center for Genome Science, National Institute of Health) Lee, Jong-Young (Center for Genome Science, National Institute of Health) Han, Bok-Ghee (Center for Genome Science, National Institute of Health) Shin, Hyoung-Doo (SNP Genetics, Inc.) Cho, Nam-Han (Department of Preventive Medicine, Ajou University School of Medicine) Shin, Chol (Department of Internal Medicine, Korea University, Ansan Hospital) Woo, Jeong-Taek (Department of Endocrinology and Metabolism, KyungHee University Hospital, School of Medicine, KyungHee University) Park, Hun-Kuk (Biomedical Education Center, Department of Biomedical Engineering, School of Medicine, KyungHee University) Oh, Berm-Seok (Biomedical Education Center, Department of Biomedical Engineering, School of Medicine, KyungHee University) |
1 | Rondinone, C.M., Trevillyan, J.M., Clampit, J., Gum, R. J., Berg, C., Kroeger, P., Frost, L., Zinker, B.A., Reilly, R., Ulrich, R., Butler, M., Monia, B.P., Jirousek, M.R., and Waring, J.F. (2002). Protein tyrosine phosphatase 1B reduction regulates adiposity and expression of genes involved in lipogenesis. Diabetes 51, 2405-2411 DOI ScienceOn |
2 | Di Paola, R., Frittitta, L., Miscio, G., Bozzali, M., Baratta, R., Centra, M., Spampinato, D., Santagati, M.G., Ercolino, T., Cisternino, C., Soccio, T., Mastroianno, S., Tassi, V., Almgren, P., Pizzuti, A., Vigneri, R., and Trischitta, V. (2002). A variation in 3' UTR of hPTP1B increases specific gene expression and associates with insulin resistance. Am. J. Hum. Genet. 70, 806-812 DOI ScienceOn |
3 | Bowden, D.W., Sale, M., Howard, T.D., Qadri, A., Spray, B.J., Rothschild, C.B., Akots, G., Rich, S.S., and Freedman, B.I. (1997). Linkage of genetic markers on human chromosomes 20 and 12 to NIDDM in Caucasian sib pairs with a history of diabetic nephropathy. Diabetes 46, 882-886 DOI ScienceOn |
4 | Burdon, K.P., Bento, J.L., Langefeld, C.D., Campbell, J.K., Carr, J.J., Wagenknecht, L.M., Herrington, D.M., Freedman, B.I., Rich, S.S., and Bowden, D.W. (2006). Association of protein tyrosine phosphatase-N1 polymorphisms with coronary calcified plaque in the Diabetes Heart Study. Diabetes 55, 651-658 DOI ScienceOn |
5 | Cheyssac, C., Lecoeur, C., Dechaume, A., Bibi, A., Charpentier, G., Balkau, B., Marre, M., Froguel, P., Gibson, F., and Vaxillaire, M. (2006). Analysis of common PTPN1 gene variants in type 2 diabetes, obesity and associated phenotypes in the French population. BMC Med. Genet. 7, 44 DOI ScienceOn |
6 | Elchebly, M., Payette, P., Michaliszyn, E., Cromlish, W., Collins, S., Loy, A.L., Normandin, D., Cheng, A., Himms- Hagen, J., Chan, C.C., Ramachandran, C., Gresser, M.J., Tremblay, M.L., and Kennedy, B.P. (1999). Increased insulin sensitivity and obesity resistance in mice lacking the protein tyrosine phosphatase-1B gene. Science 283, 1544-1548 DOI ScienceOn |
7 | Ji, L., Malecki, M., Warram, J.H., Yang, Y., Rich, S.S., and Krolewski, A.S. (1997). New susceptibility locus for NIDDM is localized to human chromosome 20q. Diabetes 46, 876-881 DOI ScienceOn |
8 | Katz, A., Nambi, S.S., Mather, K., Baron, A.D., Follmann, D.A., Sullivan, G., and Quon M.J. (2000). Quantitative insulin sensitivity check index: a simple, accurate method for assessing insulin sensitivity in humans. J. Clin. Endocrinol. Metab. 85, 2402-2410 DOI |
9 | Lembertas, A.V., Perusse, L., Chagnon, Y.C., Fisler, J.S., Warden, C.H., Purcell-Huynh, D.A., Dionne, F.T., Gagnon, J., Nadeau, A., Lusis, A.J., and Bouchard, C. (1997). Identification of an obesity quantitative trait locus on mouse chromosome 2 and evidence of linkage to body fat and insulin on the human homologous region 20q. J. Clin. Invest. 100, 1240-1247 DOI ScienceOn |
10 | Livak, K.J. (1999). Allelic discrimination using Xuorogenic probes and the 5_nuclease assay. Genet. Anal. 14, 143-149 DOI |
11 | Zabolotny, J.M., Bence-Hanulec, K.K., Stricker-Krongrad, A., Haj, F., Wang, Y., Minokoshi, Y., Kim, Y.B., Elmquist, J.K., Tartaglia, L.A., Kahn, B.B., and Neel, B.G. (2002). PTP1B regulates leptin signal transduction in vivo. Dev. Cell 2, 489-495 DOI ScienceOn |
12 | Spencer-Jones, N.J., Wang, X., Snieder, H., Spector, T.D., Carter, N.D., and O'Dell, S.D. (2005). Protein tyrosine phosphatase-1B gene PTPN1: selection of tagging single nucleotide polymorphisms and association with body fat, insulin sensitivity, and the metabolic syndrome in a normal female population. Diabetes 54, 3296-3304 DOI ScienceOn |
13 | Evans, J.L., and Jallal, B. (1999). Protein tyrosine phosphatases: their role in insulin action and potential as drug targets. Expert Opin. Investig. Drugs. 8, 139-160 DOI ScienceOn |
14 | Palmer, N.D., Bento, J.L., Mychaleckyj, J.C., Langefeld, C.D., Campbell, J.K., Norris, J.M., Haffner, S.M., Bergman, R.N., and Bowden, D.W. (2004). Association of protein tyrosine phosphatase 1B gene polymorphisms with measures of glucose homeostasis in Hispanic Americans: the insulin resistance atherosclerosis study (IRAS) family study. Diabetes 53, 3013-3019 DOI ScienceOn |
15 | Cheng, A., Uetani, N., Simoncic, P.D., Chaubey, V.P., Lee- Loy, A., McGlade, C.J., Kennedy, B.P., and Tremblay, M.L. (2002). Attenuation of leptin action and regulation of obesity by protein tyrosine phosphatase 1B. Dev. Cell 2, 497-503 DOI ScienceOn |
16 | Florez, J.C., Agapakis, C.M., Burtt, N.P., Sun, M., Almgren, P., Rastam, L., Tuomi, T., Gaudet, D., Hudson, T.J., Daly, M.J., Ardlie, K.G., Hirschhorn, J.N., Groop, L., and Altshuler, D. (2005). Association testing of the protein tyrosine phosphatase 1B gene (PTPN1) with type 2 diabetes in 7,883 people. Diabetes 54, 1884-1891 DOI ScienceOn |
17 | Echwald, S.M., Bach, H., Vestergaard, H., Richelsen, B., Kristensen, K., Drivsholm, T., Borch-Johnsen, K., Hansen, T., and Pedersen, O. (2002). A P387L variant in protein tyrosine phosphatase-1B (PTP-1B) is associated with type 2 diabetes and impaired serine phosphorylation of PTP-1B in vitro. Diabetes 51, 1-6 DOI |
18 | Dong, C., Wang, S., Li, W.D., Li, D., Zhao, H., and Price, R.A. (2003). Interacting genetic loci on chromosomes 20 and 10 influence extreme human obesity. Am. J. Hum. Genet. 72, 115-124 DOI ScienceOn |
19 | Eberle, M. A., and Kruglyak, L. (2000). An analysis of strategies for discovery of single-nucleotide polymorphisms. Genet. Epidemiol. 19, Suppl. 1, S29-35 DOI |
20 | Hunt, S.C., Abkevich, V., Hensel, C.H., Gutin, A., Neff, C.D., Russell, D.L., Tran, T., Hong, X., Jammulapati, S., Riley, R., Weaver-Feldhaus, J., Macalma, T., Richards, M.M., Gress, R., Francis, M., Thomas, A., Frech, G.C., Adams, T.D., Shattuck, D., and Stone, S. (2001). Linkage of body mass index to chromosome 20 in Utah pedigrees. Hum. Genet. 109, 279-285 DOI ScienceOn |
21 | Benchabane, H., and Wrana, J.L. (2003). GATA- and Smad1-dependent enhancers in the Smad7 gene differentially interpret bone morphogenetic protein concentrations. Mol. Cell. Biol . 23, 6646-6661. DOI |
22 | Klupa, T., Malecki, M.T., Pezzolesi, M., Ji, L., Curtis, S., Langefeld, C.D., Rich, S.S., Warram, J.H., and Krolewski, A.S. (2000). Further evidence for a susceptibility locus for type 2 diabetes on chromosome 20q13.1-q13.2. Diabetes 49, 2212-2216 DOI ScienceOn |
23 | Bento, J.L., Palmer, N.D., Mychaleckyj, J.C., Lange, L.A., Langefeld, C.D., Rich, S.S., Freedman, B.I., and Bowden, D.W. (2004). Association of protein tyrosine phosphatase 1B gene polymorphisms with type 2 diabetes. Diabetes 53, 3007-3012 DOI ScienceOn |
24 | Collaku, A., Rankinen, T., Rice, T., Leon, A.S., Rao, D.C., Skinner, J.S., Wilmore, J.H., and Bouchard, C. (2004). A genome-wide linkage scan for dietary energy and nutrient intakes: the Health, Risk Factors, Exercise Training, and Genetics (HERITAGE) Family Study. Am. J. Clin. Nutr. 79, 881-886 DOI |
25 | Seely, B.L., Staubs, P.A., Reichart, D.R., Berhanu, P., Milarski, K.L., Saltiel, A.R., Kusari, J., and Olefsky, J.M. (1996). Protein tyrosine phosphatase 1B interacts with the activated insulin receptor. Diabetes 45, 1379-1385 DOI ScienceOn |
26 | Zouali, H., Hani, E.H., Philippi, A., Vionnet, N., Beckmann, J.S., Demenais, F., and Froguel, P. (1997). A susceptibility locus for early-onset non-insulin dependent (type 2) diabetes mellitus maps to chromosome 20q, proximal to the phosphoenolpyruvate carboxykinase gene. Hum. Mol. Genet. 6, 1401-1408 DOI ScienceOn |
27 | Forsell, P.A., Boie, Y., Montalibet, J., Collins, S., and Kennedy, B.P. (2000). Genomic characterization of the human and mouse protein tyrosine phosphatase-1B genes. Gene 260, 145-153 DOI ScienceOn |
28 | Goldstein, B.J., Bittner-Kowalczyk, A., White, M.F., and Harbeck, M. (2000). Tyrosine dephosphorylation and deactivation of insulin receptor substrate-1 by protein-tyrosine phosphatase 1B. Possible facilitation by the formation of a ternary complex with the Grb2 adaptor protein. J. Biol. Chem. 275, 4283-4289 DOI ScienceOn |
29 | Goldstein, B.J., Li, P.M., Ding, W., Ahmad, F., and Zhang, W.R. (1998). Regulation of insulin action by protein tyrosine phosphatases. Vitam. Horm. 54, 67-96 DOI |
30 | Klaman, L.D., Boss, O., Peroni, O.D., Kim, J.K., Martino, J.L., Zabolotny, J.M., Moghal, N., Lubkin, M., Kim, Y.B., Sharpe, A.H., Stricker-Krongrad, A., Shulman, G.I., Neel, B.G., and Kahn, B.B. (2000). Increased energy expenditure, decreased adiposity, and tissue-specific insulin sensitivity in protein-tyrosine phosphatase 1B-deficient mice. Mol. Cell Biol. 20, 5479-5489 DOI |
31 | Kwan, M., Powell, D.R., Nachman, T.Y., and Brown, M.A. (2005). An intron GATA-binding site regulates chromatin accessibility and is essential for IL-4 gene expression in mast cells. Eur. J. Immunol. 35, 1267-1274 DOI ScienceOn |
32 | Santaniemi, M., Ukkola, O., and Kesaniemi, Y.A. (2004). Tyrosine phosphatase 1B and leptin receptor genes and their interaction in type 2 diabetes. J. Intern. Med. 256, 48-55 DOI ScienceOn |