메뉴 건너뛰기




Volumn 4, Issue 2, 2010, Pages 132-138

OCTN1 variant L503F is associated with familial and sporadic inflammatory bowel disease

Author keywords

Familial IBD registry; Genetic association; Inflammatory bowel disease; L503F; OCTN; Organic cation transporter

Indexed keywords

GENE PRODUCT; PROTEIN OCTN1; UNCLASSIFIED DRUG;

EID: 77952103249     PISSN: 18739946     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.crohns.2009.09.003     Document Type: Article
Times cited : (18)

References (46)
  • 1
    • 3042801577 scopus 로고    scopus 로고
    • Unravelling the complex genetics of inflammatory bowel disease
    • Russell R.K., Wilson D.C., and Satsangi J. Unravelling the complex genetics of inflammatory bowel disease. Arch Dis Child 89 (2004) 598-603
    • (2004) Arch Dis Child , vol.89 , pp. 598-603
    • Russell, R.K.1    Wilson, D.C.2    Satsangi, J.3
  • 2
    • 44349124113 scopus 로고    scopus 로고
    • The genetics and immunopathogenesis of inflammatory bowel disease. Nature Reviews
    • Cho J.H. The genetics and immunopathogenesis of inflammatory bowel disease. Nature Reviews. Immunology 8 (2008) 458-466
    • (2008) Immunology , vol.8 , pp. 458-466
    • Cho, J.H.1
  • 5
    • 32944466887 scopus 로고    scopus 로고
    • Ecological and evolutionary forces shaping microbial diversity in the human intestine
    • Ley R.E., Peterson D.A., and Gordon J.I. Ecological and evolutionary forces shaping microbial diversity in the human intestine. Cell 124 (2006) 837-848
    • (2006) Cell , vol.124 , pp. 837-848
    • Ley, R.E.1    Peterson, D.A.2    Gordon, J.I.3
  • 7
    • 0035978651 scopus 로고    scopus 로고
    • Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease.[see comment]
    • Hugot J.P., Chamaillard M., Zouali H., Lesage S., Cezard J.P., Belaiche J., et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease.[see comment]. Nature 411 (2001) 599-603
    • (2001) Nature , vol.411 , pp. 599-603
    • Hugot, J.P.1    Chamaillard, M.2    Zouali, H.3    Lesage, S.4    Cezard, J.P.5    Belaiche, J.6
  • 8
    • 33845340501 scopus 로고    scopus 로고
    • A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.[see comment]
    • Duerr R.H., Taylor K.D., Brant S.R., Rioux J.D., Silverberg M.S., Daly M.J., et al. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.[see comment]. Science 314 (2006) 1461-1463
    • (2006) Science , vol.314 , pp. 1461-1463
    • Duerr, R.H.1    Taylor, K.D.2    Brant, S.R.3    Rioux, J.D.4    Silverberg, M.S.5    Daly, M.J.6
  • 9
    • 34347338690 scopus 로고    scopus 로고
    • Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.[see comment]
    • Parkes M., Barrett J.C., Prescott N.J., Tremelling M., Anderson C.A., Fisher S.A., et al. Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.[see comment]. Nat Genet 39 (2007) 830-832
    • (2007) Nat Genet , vol.39 , pp. 830-832
    • Parkes, M.1    Barrett, J.C.2    Prescott, N.J.3    Tremelling, M.4    Anderson, C.A.5    Fisher, S.A.6
  • 10
    • 33846627302 scopus 로고    scopus 로고
    • A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1
    • Hampe J., Franke A., Rosenstiel P., Till A., Teuber M., Huse K., et al. A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1. Nat Genet 39 (2007) 207-211
    • (2007) Nat Genet , vol.39 , pp. 207-211
    • Hampe, J.1    Franke, A.2    Rosenstiel, P.3    Till, A.4    Teuber, M.5    Huse, K.6
  • 11
    • 31544434271 scopus 로고    scopus 로고
    • Developmental maturation and segmental distribution of rat small intestinal l-carnitine uptake
    • Garcia-Miranda P., Duran J.M., Peral M.J., and Ilundain A.A. Developmental maturation and segmental distribution of rat small intestinal l-carnitine uptake. J Membr Biol 206 (2005) 9-16
    • (2005) J Membr Biol , vol.206 , pp. 9-16
    • Garcia-Miranda, P.1    Duran, J.M.2    Peral, M.J.3    Ilundain, A.A.4
  • 12
    • 33747618018 scopus 로고    scopus 로고
    • Organic cation/carnitine transporter OCTN2 (Slc22a5) is responsible for carnitine transport across apical membranes of small intestinal epithelial cells in mouse
    • Kato Y., Sugiura M., Sugiura T., Wakayama T., Kubo Y., Kobayashi D., et al. Organic cation/carnitine transporter OCTN2 (Slc22a5) is responsible for carnitine transport across apical membranes of small intestinal epithelial cells in mouse. Mol Pharmacol 70 (2006) 829-837
    • (2006) Mol Pharmacol , vol.70 , pp. 829-837
    • Kato, Y.1    Sugiura, M.2    Sugiura, T.3    Wakayama, T.4    Kubo, Y.5    Kobayashi, D.6
  • 13
    • 0031434178 scopus 로고    scopus 로고
    • Cloning and characterization of a novel human pH-dependent organic cation transporter, OCTN1
    • Tamai I., Yabuuchi H., Nezu J., Sai Y., Oku A., Shimane M., et al. Cloning and characterization of a novel human pH-dependent organic cation transporter, OCTN1. FEBS Lett 419 (1997) 107-111
    • (1997) FEBS Lett , vol.419 , pp. 107-111
    • Tamai, I.1    Yabuuchi, H.2    Nezu, J.3    Sai, Y.4    Oku, A.5    Shimane, M.6
  • 14
    • 34249893108 scopus 로고    scopus 로고
    • The Bacillus subtilis quorum-sensing milecule CSF contributes to intestinal homeostasis via OCTN2, a host cell membrane transporter
    • Fujiya M., Musch M.W., Nakagawa Y., Hu S., Alverdy J., Kohgo Y., et al. The Bacillus subtilis quorum-sensing milecule CSF contributes to intestinal homeostasis via OCTN2, a host cell membrane transporter. Cell Host Microbe 1 (2007) 299-308
    • (2007) Cell Host Microbe , vol.1 , pp. 299-308
    • Fujiya, M.1    Musch, M.W.2    Nakagawa, Y.3    Hu, S.4    Alverdy, J.5    Kohgo, Y.6
  • 15
    • 2442585704 scopus 로고    scopus 로고
    • Functional variants of OCTN cation transporter genes are associated with Crohn disease
    • Peltekova V.D., Wintle R.F., Rubin L.A., Amos C.I., Huang Q., Gu X., Newman B., et al. Functional variants of OCTN cation transporter genes are associated with Crohn disease. Nat Genet 36 (2004) 471-475
    • (2004) Nat Genet , vol.36 , pp. 471-475
    • Peltekova, V.D.1    Wintle, R.F.2    Rubin, L.A.3    Amos, C.I.4    Huang, Q.5    Gu, X.6    Newman, B.7
  • 16
    • 33744808327 scopus 로고    scopus 로고
    • Contribution of OCTN variants within the IBD5 locus to pediatric onset Crohn's disease
    • Babusukumar U., Wang T., McGuire E., Broeckel U., and Kugathasan S. Contribution of OCTN variants within the IBD5 locus to pediatric onset Crohn's disease. Am J Gastroenterol 101 (2006) 1354-1361
    • (2006) Am J Gastroenterol , vol.101 , pp. 1354-1361
    • Babusukumar, U.1    Wang, T.2    McGuire, E.3    Broeckel, U.4    Kugathasan, S.5
  • 17
    • 33644751624 scopus 로고    scopus 로고
    • Polymorphisms in the organic cation transporter genes SLC22A4 and SLC22A5 and Crohn's disease in a New Zealand Caucasian cohort
    • Leung E., Hong J., Fraser A.G., Merriman T.R., Vishnu P., and Krissansen G.W. Polymorphisms in the organic cation transporter genes SLC22A4 and SLC22A5 and Crohn's disease in a New Zealand Caucasian cohort. Immunol Cell Biol 84 (2006) 233-236
    • (2006) Immunol Cell Biol , vol.84 , pp. 233-236
    • Leung, E.1    Hong, J.2    Fraser, A.G.3    Merriman, T.R.4    Vishnu, P.5    Krissansen, G.W.6
  • 18
    • 33644924311 scopus 로고    scopus 로고
    • Variants of OCTN1-2 cation transporter genes are associated with both Crohn's disease and ulcerative colitis
    • Palmieri O., Latiano A., Valvano R., D'Inca R., Vecchi M., Sturniolo G.C., et al. Variants of OCTN1-2 cation transporter genes are associated with both Crohn's disease and ulcerative colitis. Aliment Pharmacol Ther 23 (2006) 497-506
    • (2006) Aliment Pharmacol Ther , vol.23 , pp. 497-506
    • Palmieri, O.1    Latiano, A.2    Valvano, R.3    D'Inca, R.4    Vecchi, M.5    Sturniolo, G.C.6
  • 19
    • 33646061100 scopus 로고    scopus 로고
    • Analysis of the influence of OCTN1/2 variants within the IBD5 locus on disease susceptibility and growth indices in early onset inflammatory bowel disease
    • Russell R.K., Drummond H.E., Nimmo E.R., Anderson N.H., Noble C.L., Wilson D.C., et al. Analysis of the influence of OCTN1/2 variants within the IBD5 locus on disease susceptibility and growth indices in early onset inflammatory bowel disease. Gut 55 (2006) 1114-1123
    • (2006) Gut , vol.55 , pp. 1114-1123
    • Russell, R.K.1    Drummond, H.E.2    Nimmo, E.R.3    Anderson, N.H.4    Noble, C.L.5    Wilson, D.C.6
  • 20
    • 33847212513 scopus 로고    scopus 로고
    • Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's disease
    • Silverberg M.S., Duerr R.H., Brant S.R., Bromfield G., Datta L.W., Jani N., et al. Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's disease. Eur J Hum Genet 15 (2007) 328-335
    • (2007) Eur J Hum Genet , vol.15 , pp. 328-335
    • Silverberg, M.S.1    Duerr, R.H.2    Brant, S.R.3    Bromfield, G.4    Datta, L.W.5    Jani, N.6
  • 21
    • 21344449654 scopus 로고    scopus 로고
    • Polymorphisms in the DLG5 and OCTN cation transporter genes in Crohn's disease.[see comment]
    • Torok H.P., Glas J., Tonenchi L., Lohse P., Muller-Myhsok B., Limbersky O., et al. Polymorphisms in the DLG5 and OCTN cation transporter genes in Crohn's disease.[see comment]. Gut 54 (2005) 1421-1427
    • (2005) Gut , vol.54 , pp. 1421-1427
    • Torok, H.P.1    Glas, J.2    Tonenchi, L.3    Lohse, P.4    Muller-Myhsok, B.5    Limbersky, O.6
  • 22
    • 33646779514 scopus 로고    scopus 로고
    • Evidence for association of OCTN genes and IBD5 with ulcerative colitis
    • Waller S., Tremelling M., Bredin F., Godfrey L., Howson J., and Parkes M. Evidence for association of OCTN genes and IBD5 with ulcerative colitis. Gut 55 (2006) 809-814
    • (2006) Gut , vol.55 , pp. 809-814
    • Waller, S.1    Tremelling, M.2    Bredin, F.3    Godfrey, L.4    Howson, J.5    Parkes, M.6
  • 23
    • 12744274602 scopus 로고    scopus 로고
    • Association analysis of SLC22A4, SLC22A5 and DLG5 in Japanese patients with Crohn disease
    • Yamazaki K., Takazoe M., Tanaka T., Ichimori T., Saito S., Iida A., et al. Association analysis of SLC22A4, SLC22A5 and DLG5 in Japanese patients with Crohn disease. J Hum Genet 49 (2004) 664-668
    • (2004) J Hum Genet , vol.49 , pp. 664-668
    • Yamazaki, K.1    Takazoe, M.2    Tanaka, T.3    Ichimori, T.4    Saito, S.5    Iida, A.6
  • 24
    • 34247125293 scopus 로고    scopus 로고
    • Role of CARD15, DLG5 and OCTN genes polymorphisms in children with inflammatory bowel diseases
    • Cucchiara S., Latiano A., Palmieri O., Staiano A.M., D'Inca R., Guariso G., et al. Role of CARD15, DLG5 and OCTN genes polymorphisms in children with inflammatory bowel diseases. World J Gastroenterol 13 (2007) 1221-1229
    • (2007) World J Gastroenterol , vol.13 , pp. 1221-1229
    • Cucchiara, S.1    Latiano, A.2    Palmieri, O.3    Staiano, A.M.4    D'Inca, R.5    Guariso, G.6
  • 25
    • 33746935094 scopus 로고    scopus 로고
    • Direct or indirect association in a complex disease: the role of SLC22A4 and SLC22A5 functional variants in Crohn disease
    • Fisher S.A., Hampe J., Onnie C.M., Daly M.J., Curley C., Purcell S., et al. Direct or indirect association in a complex disease: the role of SLC22A4 and SLC22A5 functional variants in Crohn disease. Hum Mutat 27 (2006) 778-785
    • (2006) Hum Mutat , vol.27 , pp. 778-785
    • Fisher, S.A.1    Hampe, J.2    Onnie, C.M.3    Daly, M.J.4    Curley, C.5    Purcell, S.6
  • 27
    • 34447624497 scopus 로고    scopus 로고
    • Plasma carnitine ester profiles in Crohn's disease patients characterized for SLC22A4 C1672T and SLC22A5 G-207C genotypes
    • Bene J., Komlosi K., Magyari L., Talian G., Horvath K., Gasztonyi B., et al. Plasma carnitine ester profiles in Crohn's disease patients characterized for SLC22A4 C1672T and SLC22A5 G-207C genotypes. Br J Nutr 98 (2007) 345-350
    • (2007) Br J Nutr , vol.98 , pp. 345-350
    • Bene, J.1    Komlosi, K.2    Magyari, L.3    Talian, G.4    Horvath, K.5    Gasztonyi, B.6
  • 28
    • 33646789498 scopus 로고    scopus 로고
    • Relationship between CARD15, SLC22A4/5, and DLG5 polymorphisms and early-onset inflammatory bowel diseases: an Italian multicentric study
    • Ferraris A., Torres B., Knafelz D., Barabino A., Lionetti P., de Angelis G.L., et al. Relationship between CARD15, SLC22A4/5, and DLG5 polymorphisms and early-onset inflammatory bowel diseases: an Italian multicentric study. Inflamm Bowel Dis 12 (2006) 355-361
    • (2006) Inflamm Bowel Dis , vol.12 , pp. 355-361
    • Ferraris, A.1    Torres, B.2    Knafelz, D.3    Barabino, A.4    Lionetti, P.5    de Angelis, G.L.6
  • 29
    • 34250017046 scopus 로고    scopus 로고
    • Prevalence of SLC22A4 1672T and SLC22A5 -207C combination defined TC haplotype in Hungarian ulcerative colitis patients
    • Magyari L., Bene J., Komlosi K., Talian G., Farago B., Csongei V., et al. Prevalence of SLC22A4 1672T and SLC22A5 -207C combination defined TC haplotype in Hungarian ulcerative colitis patients. Pathol Oncol Res 13 (2007) 53-56
    • (2007) Pathol Oncol Res , vol.13 , pp. 53-56
    • Magyari, L.1    Bene, J.2    Komlosi, K.3    Talian, G.4    Farago, B.5    Csongei, V.6
  • 30
    • 28844509940 scopus 로고    scopus 로고
    • The contribution of OCTN1/2 variants within the IBD5 locus to disease susceptibility and severity in Crohn's disease
    • Noble C.L., Nimmo E.R., Drummond H., Ho G.T., Tenesa A., Smith L., et al. The contribution of OCTN1/2 variants within the IBD5 locus to disease susceptibility and severity in Crohn's disease. Gastroenterology 129 (2005) 1854-1864
    • (2005) Gastroenterology , vol.129 , pp. 1854-1864
    • Noble, C.L.1    Nimmo, E.R.2    Drummond, H.3    Ho, G.T.4    Tenesa, A.5    Smith, L.6
  • 31
    • 28844459843 scopus 로고    scopus 로고
    • Association of organic cation transporter risk haplotype with perianal penetrating Crohn's disease but not with susceptibility to IBD.[comment]
    • Vermeire S., Pierik M., Hlavaty T., Claessens G., van Schuerbeeck N., Joossens S., et al. Association of organic cation transporter risk haplotype with perianal penetrating Crohn's disease but not with susceptibility to IBD.[comment]. Gastroenterology 129 (2005) 1845-1853
    • (2005) Gastroenterology , vol.129 , pp. 1845-1853
    • Vermeire, S.1    Pierik, M.2    Hlavaty, T.3    Claessens, G.4    van Schuerbeeck, N.5    Joossens, S.6
  • 32
    • 0030002989 scopus 로고    scopus 로고
    • Multiplex genotype determination at a large number of gene loci
    • Lin Z., Cui X., and Li H. Multiplex genotype determination at a large number of gene loci. Proc Natl Acad Sci U S A 93 (1996) 2582-2587
    • (1996) Proc Natl Acad Sci U S A , vol.93 , pp. 2582-2587
    • Lin, Z.1    Cui, X.2    Li, H.3
  • 33
    • 17144411157 scopus 로고    scopus 로고
    • Assessment of two flexible and compatible SNP genotyping platforms: TaqMan SNP genotyping assays and the SNPlex genotyping system
    • De la Vega F.M., Lazaruk K.D., Rhodes M.D., and Wenz M.H. Assessment of two flexible and compatible SNP genotyping platforms: TaqMan SNP genotyping assays and the SNPlex genotyping system. Mutat Res 573 (2005) 111-135
    • (2005) Mutat Res , vol.573 , pp. 111-135
    • De la Vega, F.M.1    Lazaruk, K.D.2    Rhodes, M.D.3    Wenz, M.H.4
  • 36
    • 77249166049 scopus 로고    scopus 로고
    • Genetic association of DLG5 R30Q with familial and sporadic inflammatory bowel disease in men
    • Lin Z., Poritz L., Franke A., Li T.-Y., Ruether A., Byrnes K.A., et al. Genetic association of DLG5 R30Q with familial and sporadic inflammatory bowel disease in men. Disease Markers 27 (2009) 1-9
    • (2009) Disease Markers , vol.27 , pp. 1-9
    • Lin, Z.1    Poritz, L.2    Franke, A.3    Li, T.-Y.4    Ruether, A.5    Byrnes, K.A.6
  • 37
    • 77949311825 scopus 로고    scopus 로고
    • Lin Z, Poritz L, Franke A, Li T-Y, Ruether A, Byrnes KA, et al. Genetic association of nonsynonymous variants of the IL23R with familial and sporadic inflammatory bowel disease in women. Digestive Diseases and Sciences 2009; Published online March 18.
    • Lin Z, Poritz L, Franke A, Li T-Y, Ruether A, Byrnes KA, et al. Genetic association of nonsynonymous variants of the IL23R with familial and sporadic inflammatory bowel disease in women. Digestive Diseases and Sciences 2009; Published online March 18.
  • 38
    • 33645012263 scopus 로고    scopus 로고
    • Evidence of transmission ratio distortion of DLG5 R30Q variant in general and implication of an association with Crohn disease in men
    • Friedrichs F., Brescianini S., Annese V., Latiano A., Berger K., Kugathasan S., et al. Evidence of transmission ratio distortion of DLG5 R30Q variant in general and implication of an association with Crohn disease in men. Hum Genet 119 (2006) 305-311
    • (2006) Hum Genet , vol.119 , pp. 305-311
    • Friedrichs, F.1    Brescianini, S.2    Annese, V.3    Latiano, A.4    Berger, K.5    Kugathasan, S.6
  • 39
    • 33947683912 scopus 로고    scopus 로고
    • Endoscopist can be more powerful than age and male gender in predicting adenoma detection at colonoscopy.[see comment]
    • Chen S.C., and Rex D.K. Endoscopist can be more powerful than age and male gender in predicting adenoma detection at colonoscopy.[see comment]. Am J Gastroenterol 102 (2007) 856-861
    • (2007) Am J Gastroenterol , vol.102 , pp. 856-861
    • Chen, S.C.1    Rex, D.K.2
  • 41
    • 0032577202 scopus 로고    scopus 로고
    • Ganapathy V. cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family
    • Wu X., Prasad P.D., and Leibach F.H. Ganapathy V. cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family. Biochem Biophys Res Commun 246 (1998) 589-595
    • (1998) Biochem Biophys Res Commun , vol.246 , pp. 589-595
    • Wu, X.1    Prasad, P.D.2    Leibach, F.H.3
  • 42
    • 18444395237 scopus 로고    scopus 로고
    • Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF(-kappa)B transcription factors
    • van Heel D.A., Udalova I.A., De Silva A.P., McGovern D.P., Kinouchi Y., Hull J., et al. Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF(-kappa)B transcription factors. Hum Mol Genet 11 (2002) 1281-1289
    • (2002) Hum Mol Genet , vol.11 , pp. 1281-1289
    • van Heel, D.A.1    Udalova, I.A.2    De Silva, A.P.3    McGovern, D.P.4    Kinouchi, Y.5    Hull, J.6
  • 43
    • 33646032683 scopus 로고    scopus 로고
    • Bacterially speaking
    • Bassler B.L., and Losick R. Bacterially speaking. Cell 125 (2006) 237-246
    • (2006) Cell , vol.125 , pp. 237-246
    • Bassler, B.L.1    Losick, R.2
  • 44
    • 33644517930 scopus 로고    scopus 로고
    • Bacterial small-molecule signaling pathways
    • Camilli A., and Bassler B.L. Bacterial small-molecule signaling pathways. Science 311 (2006) 1113-1116
    • (2006) Science , vol.311 , pp. 1113-1116
    • Camilli, A.1    Bassler, B.L.2
  • 46
    • 33846709701 scopus 로고    scopus 로고
    • Biomedicine. Puzzling out the pains in the gut
    • Marx J. Biomedicine. Puzzling out the pains in the gut. Science 315 (2007) 33-35
    • (2007) Science , vol.315 , pp. 33-35
    • Marx, J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.