Title:
HUMAN TYPE II DIABETES GENE-Kv CHANNEL-INTERACTING PROTEIN (KChIP1) LOCATED ON CHROMOSOME 5
Document Type and Number:
WIPO Patent Application WO2004041193
Kind Code:
A3
Abstract:
Association of Type II diabetes and a locus on chromosome 5 is disclosed. In particular, the gene KCh1P 1 within this locus is shown by linkage analysis to be a susceptibility gene for Type Il diabetes. Pathway targeting for drug delivery and diagnosis applications in identifying those who have Type lI diabetes or are at risk of developing Type Il diabetes, in particular those that are non-obese are described.
Inventors:
REYNISDOTTIR INGA (IS)
GULCHER JEFFREY R (US)
GRANT STRUAN F (IS)
THORLEIFSSON GUDMAR (IS)
GULCHER JEFFREY R (US)
GRANT STRUAN F (IS)
THORLEIFSSON GUDMAR (IS)
Application Number:
PCT/US2003/034681
Publication Date:
October 06, 2005
Filing Date:
October 31, 2003
Export Citation:
Assignee:
DECODE GENETICS EHF (IS)
REYNISDOTTIR INGA (IS)
GULCHER JEFFREY R (US)
GRANT STRUAN F (IS)
THORLEIFSSON GUDMAR (IS)
REYNISDOTTIR INGA (IS)
GULCHER JEFFREY R (US)
GRANT STRUAN F (IS)
THORLEIFSSON GUDMAR (IS)
International Classes:
A01K67/027; A61K6/00; A61K31/7088; A61K38/17; A61K39/395; A61K45/00; A61K48/00; A61P3/10; C07H21/04; C12N15/12; C12P19/34; C12P21/02; C12Q1/68; C12Q1/70; G01N33/53; A61K; (IPC1-7): C07H21/04; C12P19/34; C12Q1/70
Foreign References:
| US6361971B1 | 2002-03-26 |
Other References:
KROESE M. ET AL: "Genetic Test and Their Evaluation: Can We Answer the Key Questions?", GENETICS IN MEDICINE., vol. 6, November 2004 (2004-11-01) - December 2004 (2004-12-01), pages 475 - 480, XP008061434
LUCENTINI J. ET AL: "Gene Association Studies Typically Wrong.", THE SCIENTIST., vol. 18, no. 24, 20 December 2004 (2004-12-20), pages 20, XP002985230
PAGE G.P. ET AL: "Are We There Yet? Deciding When One Has Demostrated Specific Genetic Causation in Complex Diseases and Quantitative Traits.", AM.J.HUM.GENET., vol. 73, no. 4, October 2003 (2003-10-01), pages 711 - 719, XP002984383
VAN HOORICK D. ET AL: "Differential Modulation of Kv4 Kinetics by KChI PI Splice Variants.", MOLECULAR AND CELLULAR NEUROSCIENCE., vol. 24, 2003, pages 357 - 366, XP002999468
REYNISDOTTIR I. ET AL: "Localization of a Susceptibility Gene for Type 2 Diabetes to Chromosome.", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 73, no. 2, August 2003 (2003-08-01), pages 323 - 335, XP002368356
MARTIN L.J. ET AL: "A Quantitative Trait Locus Influencing Type 2 Diabetes Susceptibility Maps to a Region on 5q in an Extended French Family.", DIABETES., vol. 51, December 2002 (2002-12-01), pages 3568 - 3572, XP002999469
LINDGREN C.M. ET AL: "Contribution of Known and Unknown Susceptibility Gene to Early Onset Diabetes in Scandinavia.", DIABETES., vol. 51, no. 5, May 2002 (2002-05-01), pages 1609 - 1617, XP002979997
PEZZOLESI M.G. ET AL: "Examination of Candidate Chromosomal Regions for Type 2 Diabetes Reveals a Susceptibility Locus on Human Chromosome 8p23.1.", DIABETES, vol. 53, February 2004 (2004-02-01), pages 486 - 491, XP002999470
TAKIMOTO K. ET AL: "Palmitoylation of KChIP Splicing Variants is Required for Efficient Cell Surface Expression of Kv4.3 Channels.", J.BIOL.CHEMISTRY., vol. 277, no. 30, July 2002 (2002-07-01), pages 26904 - 26911, XP002999471
AN W.F. ET AL: "Modulation of A-type Potassium Channels by a Family of CAlcium Sensors.", NATURE., vol. 403, no. 6769, 3 February 2000 (2000-02-03), pages 553 - 556, XP002209980
See also references of EP 1572102A4
LUCENTINI J. ET AL: "Gene Association Studies Typically Wrong.", THE SCIENTIST., vol. 18, no. 24, 20 December 2004 (2004-12-20), pages 20, XP002985230
PAGE G.P. ET AL: "Are We There Yet? Deciding When One Has Demostrated Specific Genetic Causation in Complex Diseases and Quantitative Traits.", AM.J.HUM.GENET., vol. 73, no. 4, October 2003 (2003-10-01), pages 711 - 719, XP002984383
VAN HOORICK D. ET AL: "Differential Modulation of Kv4 Kinetics by KChI PI Splice Variants.", MOLECULAR AND CELLULAR NEUROSCIENCE., vol. 24, 2003, pages 357 - 366, XP002999468
REYNISDOTTIR I. ET AL: "Localization of a Susceptibility Gene for Type 2 Diabetes to Chromosome.", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 73, no. 2, August 2003 (2003-08-01), pages 323 - 335, XP002368356
MARTIN L.J. ET AL: "A Quantitative Trait Locus Influencing Type 2 Diabetes Susceptibility Maps to a Region on 5q in an Extended French Family.", DIABETES., vol. 51, December 2002 (2002-12-01), pages 3568 - 3572, XP002999469
LINDGREN C.M. ET AL: "Contribution of Known and Unknown Susceptibility Gene to Early Onset Diabetes in Scandinavia.", DIABETES., vol. 51, no. 5, May 2002 (2002-05-01), pages 1609 - 1617, XP002979997
PEZZOLESI M.G. ET AL: "Examination of Candidate Chromosomal Regions for Type 2 Diabetes Reveals a Susceptibility Locus on Human Chromosome 8p23.1.", DIABETES, vol. 53, February 2004 (2004-02-01), pages 486 - 491, XP002999470
TAKIMOTO K. ET AL: "Palmitoylation of KChIP Splicing Variants is Required for Efficient Cell Surface Expression of Kv4.3 Channels.", J.BIOL.CHEMISTRY., vol. 277, no. 30, July 2002 (2002-07-01), pages 26904 - 26911, XP002999471
AN W.F. ET AL: "Modulation of A-type Potassium Channels by a Family of CAlcium Sensors.", NATURE., vol. 403, no. 6769, 3 February 2000 (2000-02-03), pages 553 - 556, XP002209980
See also references of EP 1572102A4
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