WO2006063703A3 - Polymorphisme a simple nucleotide (snp) - Google Patents

Polymorphisme a simple nucleotide (snp) Download PDF

Info

Publication number
WO2006063703A3
WO2006063703A3 PCT/EP2005/012986 EP2005012986W WO2006063703A3 WO 2006063703 A3 WO2006063703 A3 WO 2006063703A3 EP 2005012986 W EP2005012986 W EP 2005012986W WO 2006063703 A3 WO2006063703 A3 WO 2006063703A3
Authority
WO
WIPO (PCT)
Prior art keywords
diabetes
type
single nucleotide
snp
nucleotide polymorphism
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Ceased
Application number
PCT/EP2005/012986
Other languages
English (en)
Other versions
WO2006063703A8 (fr
WO2006063703A2 (fr
Inventor
Malek Faham
Soren Germer
Hywel Bowden Jones
Mitchell Lee Martin
Martin Emilio Moorhead
Erik Roy Rasmussen
James Andrew Rosinski
Delphine Lagarde
Brian Kent Rhees
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
F Hoffmann La Roche AG
Original Assignee
F Hoffmann La Roche AG
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by F Hoffmann La Roche AG filed Critical F Hoffmann La Roche AG
Priority to EP05823148A priority Critical patent/EP1828417A2/fr
Priority to CA002589037A priority patent/CA2589037A1/fr
Priority to JP2007544791A priority patent/JP2008522597A/ja
Publication of WO2006063703A2 publication Critical patent/WO2006063703A2/fr
Publication of WO2006063703A3 publication Critical patent/WO2006063703A3/fr
Anticipated expiration legal-status Critical
Publication of WO2006063703A8 publication Critical patent/WO2006063703A8/fr
Ceased legal-status Critical Current

Links

Classifications

    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P3/00Drugs for disorders of the metabolism
    • A61P3/08Drugs for disorders of the metabolism for glucose homeostasis
    • A61P3/10Drugs for disorders of the metabolism for glucose homeostasis for hyperglycaemia, e.g. antidiabetics
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/68Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
    • G01N33/6893Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids related to diseases not provided for elsewhere
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/156Polymorphic or mutational markers
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/158Expression markers
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/172Haplotypes
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00Detection or diagnosis of diseases
    • G01N2800/04Endocrine or metabolic disorders
    • G01N2800/042Disorders of carbohydrate metabolism, e.g. diabetes, glucose metabolism

Landscapes

  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Organic Chemistry (AREA)
  • Diabetes (AREA)
  • Hematology (AREA)
  • Immunology (AREA)
  • General Health & Medical Sciences (AREA)
  • Molecular Biology (AREA)
  • Analytical Chemistry (AREA)
  • Physics & Mathematics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Medicinal Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Urology & Nephrology (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Zoology (AREA)
  • Pathology (AREA)
  • Genetics & Genomics (AREA)
  • Biotechnology (AREA)
  • Biomedical Technology (AREA)
  • Biophysics (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Food Science & Technology (AREA)
  • General Engineering & Computer Science (AREA)
  • Cell Biology (AREA)
  • Emergency Medicine (AREA)
  • Endocrinology (AREA)
  • Obesity (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • General Physics & Mathematics (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

L'invention concerne l'association du diabète de type 2 avec des polymorphismes et des haplotypes à simple nucléotide. L'invention concerne également des applications diagnostiques permettant d'identifier les patients souffrant d'un diabète de type 2 ou présentant des risques de développer un diabète de type 2 ainsi que la découverte d'agents thérapeutiques et de méthodes de traitement.
PCT/EP2005/012986 2004-12-13 2005-12-05 Polymorphisme a simple nucleotide (snp) Ceased WO2006063703A2 (fr)

Priority Applications (3)

Application Number Priority Date Filing Date Title
EP05823148A EP1828417A2 (fr) 2004-12-13 2005-12-05 Polymorphisme a simple nucleotide (snp) associes au diabete sucre de type 2
CA002589037A CA2589037A1 (fr) 2004-12-13 2005-12-05 Polymorphisme a simple nucleotide (snp)
JP2007544791A JP2008522597A (ja) 2004-12-13 2005-12-05 Ii型糖尿病に関連する単一ヌクレオチド多型(snp)

Applications Claiming Priority (4)

Application Number Priority Date Filing Date Title
US63556304P 2004-12-13 2004-12-13
US60/635,563 2004-12-13
US71432105P 2005-09-06 2005-09-06
US60/714,321 2005-09-06

Publications (3)

Publication Number Publication Date
WO2006063703A2 WO2006063703A2 (fr) 2006-06-22
WO2006063703A3 true WO2006063703A3 (fr) 2006-10-26
WO2006063703A8 WO2006063703A8 (fr) 2007-11-08

Family

ID=35799724

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/EP2005/012986 Ceased WO2006063703A2 (fr) 2004-12-13 2005-12-05 Polymorphisme a simple nucleotide (snp)

Country Status (4)

Country Link
EP (1) EP1828417A2 (fr)
JP (1) JP2008522597A (fr)
CA (1) CA2589037A1 (fr)
WO (1) WO2006063703A2 (fr)

Families Citing this family (7)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP2102368A1 (fr) * 2007-01-19 2009-09-23 Integragen Gène btbd9 de susceptibilité au diabète humain
WO2008122673A2 (fr) * 2007-04-10 2008-10-16 Integragen Gène tnfrsf10a de susceptibilité au diabète chez l'homme
CA2683570A1 (fr) * 2007-04-10 2008-10-16 Integragen Gene tnfrsf10d de susceptibilite au diabete chez l'homme
WO2008122671A1 (fr) * 2007-04-10 2008-10-16 Integragen Gène tnfrsf10c de susceptibilité au diabète chez l'homme
EP2134866A2 (fr) * 2007-04-10 2009-12-23 Integragen Gène tnfrsf10b de susceptibilité au diabète chez l'homme
WO2008135508A2 (fr) * 2007-05-04 2008-11-13 Integragen Gène eefsec humain de prédisposition au diabète
CN103882127B (zh) * 2014-03-13 2016-03-16 河北联合大学 用于预测患2型糖尿病肾病发生风险的试剂盒

Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1995028411A1 (fr) * 1994-04-13 1995-10-26 Baylor College Of Medicine Sequence codant le recepteur de sulfonyluree mammifere et procede de detection de l'hypoglycemie hyperinsulinique persistante chez l'enfant
WO2002052044A2 (fr) * 2000-12-27 2002-07-04 Riken Detection de polymorphismes genetiques
WO2003079747A2 (fr) * 2001-11-05 2003-10-02 Uab Research Foundation Polynucleotide isole associe au diabete sucre de type ii et procedes d'utilisation associes
WO2004084797A2 (fr) * 2003-02-28 2004-10-07 Hubit Genomix Inc Gene associe au diabete sucre du type 2 et son utilisation

Patent Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1995028411A1 (fr) * 1994-04-13 1995-10-26 Baylor College Of Medicine Sequence codant le recepteur de sulfonyluree mammifere et procede de detection de l'hypoglycemie hyperinsulinique persistante chez l'enfant
WO2002052044A2 (fr) * 2000-12-27 2002-07-04 Riken Detection de polymorphismes genetiques
WO2003079747A2 (fr) * 2001-11-05 2003-10-02 Uab Research Foundation Polynucleotide isole associe au diabete sucre de type ii et procedes d'utilisation associes
WO2004084797A2 (fr) * 2003-02-28 2004-10-07 Hubit Genomix Inc Gene associe au diabete sucre du type 2 et son utilisation

Non-Patent Citations (8)

* Cited by examiner, † Cited by third party
Title
DAIMON MAKOTO ET AL: "Large-scale search of SNPs for type 2 DM susceptibility genes in a Japanese population.", BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, vol. 302, no. 4, 21 March 2003 (2003-03-21), pages 751 - 758, XP002369695, ISSN: 0006-291X *
DATABASE EMBL [online] 5 October 2000 (2000-10-05), "UC-59 Human Homo sapiens STS genomic clone BAC 204E21 SP6 side, sequence tagged site.", XP002369706, retrieved from EBI accession no. EM_STS:G31183 Database accession no. G31183 *
DATABASE EMBL [online] 5 October 2002 (2002-10-05), "Sequence 1883 from Patent WO02052044.", XP002369707, retrieved from EBI accession no. EM_PRO:AX515685 Database accession no. AX515685 *
DATABASE Geneseq [online] 31 January 1996 (1996-01-31), "Human sulphonylurea receptor cDNA fragment.", XP002369705, retrieved from EBI accession no. GSN:AAT01566 Database accession no. AAT01566 *
ELBEIN S C ET AL: "Role of common sequence variants in insulin secretion in familial type 2 diabetic kindreds: the sulfonylurea receptor, glucokinase, and hepatocyte nuclear factor 1alpha genes.", DIABETES CARE. MAR 2001, vol. 24, no. 3, March 2001 (2001-03-01), pages 472 - 478, XP002369698, ISSN: 0149-5992 *
FLOREZ JOSE C ET AL: "Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region", DIABETES, vol. 53, no. 5, May 2004 (2004-05-01), pages 1360 - 1368, XP002369696, ISSN: 0012-1797 *
GLOYN ANNA L ET AL: "Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes.", DIABETES, vol. 52, no. 2, February 2003 (2003-02-01), pages 568 - 572, XP002369699, ISSN: 0012-1797 *
LAUKKANEN OLLI ET AL: "Polymorphisms of the SUR1 (ABCC8) and Kir6.2 (KCNJ11) genes predict the conversion from impaired glucose tolerance to type 2 diabetes. The Finnish diabetes Prevention Study", JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol. 89, no. 12, December 2004 (2004-12-01), pages 6286 - 6290, XP002369697, ISSN: 0021-972X *

Also Published As

Publication number Publication date
EP1828417A2 (fr) 2007-09-05
JP2008522597A (ja) 2008-07-03
CA2589037A1 (fr) 2006-06-22
WO2006063703A8 (fr) 2007-11-08
WO2006063703A2 (fr) 2006-06-22

Similar Documents

Publication Publication Date Title
WO2006063704A3 (fr) Polymorphisme a simple nucleotide (snp)
WO2003038123A3 (fr) Procede de traitement du diabete et conditions apparentees basees sur des polymorphismes dans le gene tcf1
WO2009059317A3 (fr) Prédiction d'amd avec snps à l'intérieur ou près de c2, facteur b, plekha1, htra1, prelp ou loc387715
WO2008151803A3 (fr) Nouveaux polymorphismes du gène abcb1 associés à une absence de réaction clinique à des médicaments
WO2008017002A3 (fr) Polymorphismes dans des gènes affectant des troubles du système nerveux central et leurs utilisations
WO2006023719A3 (fr) Mutation genetique indiquant un risque accru de schizophrenie, de trouble schizo-affectif et de trouble bipolaire et applications pour le diagnostic et le traitement de ces maladies
WO2008147887A8 (fr) Méthodes et trousses permettant de lier des séquences polymorphes à des mutations à répétions étendues
WO2007149798A3 (fr) Biomarqueurs pour la progression de la maladie d'alzheimer
WO2008137762A3 (fr) Procédés de diagnostic et de traitement de la maladie de crohn
WO2007025085A3 (fr) Carte genetique de genes humains associes a la maladie de crohn
WO2002072604A3 (fr) Genes et polymorphismes associes a une maladie cardiovasculaire et leur utilisation
WO2003070082A3 (fr) Utilisation de polymorphismes de nucleotides simples dans le locus comt et dans les loci voisins pour determiner une predisposition a la schizophrenie, au trouble bipolaire, au cancer du sein et au cancer colorectal
WO2006063703A3 (fr) Polymorphisme a simple nucleotide (snp)
WO2003054166A3 (fr) Polymorphisme nucleotidiques associes a l'osteoarthrite
WO2006119775A3 (fr) Procede de diagnostic et de traitement d'une maladie mentale
PL1730315T3 (pl) Polimorfizmy w genie NOD2/CARD15
WO2005072151A3 (fr) Marqueurs genetiques apoe associes a l'age de l'apparition de la maladie d'alzheimer
WO2006099259A3 (fr) Nouvelles mutations faux-sens et polymorphismes a simple nucleotide dans le gene du type rabphillin-3a et utilisations correspondantes
Currie et al. Investigation of ACE, ACE2 and AGTR1 genes for association with nephropathy in Type 1 diabetes mellitus
Bendjemana et al. Genetic polymorphism of gluthation-S transferases and N-acetyl transferases 2 and nasopharyngeal carcinoma: the Tunisia experience
WO2008065544A3 (fr) Prédicteurs génétiques d'un risque de diabète sucré de type 2
WO2007006862A3 (fr) Methode et trousse permettant de detecter un risque de coronaropathie
WO2004005886A3 (fr) Kits et procedes pour evaluer la sante cardio-vasculaire
WO2002053018A3 (fr) Procede d'identification et de gestion de l'augmentation des risques de cancer du sein associes a des polymorphismes des genes mhc
WO2006053955A3 (fr) Procede et kit de detection d'un risque d'hypertension arterielle essentielle

Legal Events

Date Code Title Description
AK Designated states

Kind code of ref document: A2

Designated state(s): AE AG AL AM AT AU AZ BA BB BG BR BW BY BZ CA CH CN CO CR CU CZ DE DK DM DZ EC EE EG ES FI GB GD GE GH GM HR HU ID IL IN IS JP KE KG KM KN KP KR KZ LC LK LR LS LT LU LV LY MA MD MG MK MN MW MX MZ NA NG NI NO NZ OM PG PH PL PT RO RU SC SD SE SG SK SL SM SY TJ TM TN TR TT TZ UA UG US UZ VC VN YU ZA ZM ZW

AL Designated countries for regional patents

Kind code of ref document: A2

Designated state(s): GM KE LS MW MZ NA SD SL SZ TZ UG ZM ZW AM AZ BY KG KZ MD RU TJ TM AT BE BG CH CY CZ DE DK EE ES FI FR GB GR HU IE IS IT LT LU LV MC NL PL PT RO SE SI SK TR BF BJ CF CG CI CM GA GN GQ GW ML MR NE SN TD TG

DPE2 Request for preliminary examination filed before expiration of 19th month from priority date (pct application filed from 20040101)
121 Ep: the epo has been informed by wipo that ep was designated in this application
WWE Wipo information: entry into national phase

Ref document number: 2005823148

Country of ref document: EP

WWE Wipo information: entry into national phase

Ref document number: 2589037

Country of ref document: CA

WWE Wipo information: entry into national phase

Ref document number: 2007544791

Country of ref document: JP

NENP Non-entry into the national phase

Ref country code: DE

WWE Wipo information: entry into national phase

Ref document number: 200580048008.4

Country of ref document: CN

WWP Wipo information: published in national office

Ref document number: 2005823148

Country of ref document: EP