WO2003107008A3 - DIAGNOSTIC POLYMORPHISM OF 11ss-HYDROXYSTEROID DEHYDROGENASE USEFUL FOR IDENTIFYING THE RISK OF THE DEVELOPMENT OF ALZHEIMER'S DISEASE - Google Patents

DIAGNOSTIC POLYMORPHISM OF 11ss-HYDROXYSTEROID DEHYDROGENASE USEFUL FOR IDENTIFYING THE RISK OF THE DEVELOPMENT OF ALZHEIMER'S DISEASE Download PDF

Info

Publication number
WO2003107008A3
WO2003107008A3 PCT/EP2003/006315 EP0306315W WO03107008A3 WO 2003107008 A3 WO2003107008 A3 WO 2003107008A3 EP 0306315 W EP0306315 W EP 0306315W WO 03107008 A3 WO03107008 A3 WO 03107008A3
Authority
WO
WIPO (PCT)
Prior art keywords
disease
development
alzheimer
risk
identifying
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/EP2003/006315
Other languages
French (fr)
Other versions
WO2003107008A2 (en
Inventor
Quervain Dominique De
Andreas Papassotiropoulos
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.)
Zurich Universitaet Institut fuer Medizinische Virologie
Original Assignee
Zurich Universitaet Institut fuer Medizinische Virologie
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 Zurich Universitaet Institut fuer Medizinische Virologie filed Critical Zurich Universitaet Institut fuer Medizinische Virologie
Priority to AU2003246438A priority Critical patent/AU2003246438A1/en
Priority to EP03759962A priority patent/EP1514119A2/en
Publication of WO2003107008A2 publication Critical patent/WO2003107008A2/en
Publication of WO2003107008A3 publication Critical patent/WO2003107008A3/en
Anticipated expiration legal-status Critical
Ceased legal-status Critical Current

Links

Classifications

    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/0004—Oxidoreductases (1.)
    • C12N9/0006—Oxidoreductases (1.) acting on CH-OH groups as donors (1.1)
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00—Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48—Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/68—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
    • G01N33/6893—Chemical 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
    • G01N33/6896—Neurological disorders, e.g. Alzheimer's disease
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/28—Neurological disorders
    • G01N2800/2814—Dementia; Cognitive disorders
    • G01N2800/2821—Alzheimer

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Organic Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Zoology (AREA)
  • Biomedical Technology (AREA)
  • Biotechnology (AREA)
  • Analytical Chemistry (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Health & Medical Sciences (AREA)
  • Biochemistry (AREA)
  • Medicinal Chemistry (AREA)
  • Hematology (AREA)
  • General Engineering & Computer Science (AREA)
  • Physics & Mathematics (AREA)
  • Pathology (AREA)
  • Urology & Nephrology (AREA)
  • Cell Biology (AREA)
  • General Physics & Mathematics (AREA)
  • Neurosurgery (AREA)
  • Food Science & Technology (AREA)
  • Neurology (AREA)
  • Biophysics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)

Abstract

La présente invention est fondée sur l'association surprenante d'un polymorphisme dans le gène codant pour HSD11B1 avec un risque génétique accru de développement d'une maladie neurodégénérative, en particulier la maladie d'Alzheimer, et concerne une méthode permettant de diagnostiquer et de pronostiquer une telle maladie, ou de déterminer la propension ou la prédisposition d'un sujet à développer une telle maladie. Ladite méthode consiste à détecter la présence ou l'absence d'un polymorphisme de nucléotide simple dans le gène codant pour HSD11B1.The present invention is based on the surprising association of a polymorphism in the gene coding for HSD11B1 with an increased genetic risk for the development of a neurodegenerative disease, in particular Alzheimer's disease, and relates to a method making it possible to diagnose and to predict such a disease, or to determine a subject's propensity or predisposition to develop such a disease. The method includes detecting the presence or absence of a single nucleotide polymorphism in the gene encoding HSD11B1.

PCT/EP2003/006315 2002-06-17 2003-06-16 DIAGNOSTIC POLYMORPHISM OF 11ß-HYDROXYSTEROID DEHYDROGENASE USEFUL FOR IDENTIFYING RISK OF DEVELOPING ALZHEIMER'S DISEASE Ceased WO2003107008A2 (en)

Priority Applications (2)

Application Number Priority Date Filing Date Title
AU2003246438A AU2003246438A1 (en) 2002-06-17 2003-06-16 DIAGNOSTIC POLYMORPHISM OF 11ss-HYDROXYSTEROID DEHYDROGENASE USEFUL FOR IDENTIFYING RISK OF DEVELOPING ALZHEIMER'S DISEASE
EP03759962A EP1514119A2 (en) 2002-06-17 2003-06-16 DIAGNOSTIC POLYMORPHISM OF 11s-HYDROXYSTEROID DEHYDROGENASE USEFUL FOR IDENTIFYING RISK OF DEVELOPING ALZHEIMER S DISEA SE

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
EP02013239 2002-06-17
EP02013239.5 2002-06-17

Publications (2)

Publication Number Publication Date
WO2003107008A2 WO2003107008A2 (en) 2003-12-24
WO2003107008A3 true WO2003107008A3 (en) 2004-03-25

Family

ID=29724390

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/EP2003/006315 Ceased WO2003107008A2 (en) 2002-06-17 2003-06-16 DIAGNOSTIC POLYMORPHISM OF 11ß-HYDROXYSTEROID DEHYDROGENASE USEFUL FOR IDENTIFYING RISK OF DEVELOPING ALZHEIMER'S DISEASE

Country Status (3)

Country Link
EP (1) EP1514119A2 (en)
AU (1) AU2003246438A1 (en)
WO (1) WO2003107008A2 (en)

Non-Patent Citations (12)

* Cited by examiner, † Cited by third party
Title
"A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms", NATURE, MACMILLAN JOURNALS LTD. LONDON, GB, vol. 409, 15 February 2001 (2001-02-15), pages 928 - 933, XP002193850, ISSN: 0028-0836 *
DATABASE SNP-DATABASE OF NCBI [online] 29 January 2001 (2001-01-29), XP002220033, retrieved from SNP-DATABASE OF NCBI Database accession no. rs846911 *
DATABASE SNP-DATABASE OF NCBI [online] 9 February 2000 (2000-02-09), XP002263453, retrieved from SNP-DATABASE OF NCBI Database accession no. rs860150 *
DE KLOET E RONALD ET AL: "Brain corticosteroid receptor balance in health and disease.", ENDOCRINE REVIEWS, vol. 19, no. 3, June 1998 (1998-06-01), pages 269 - 301, XP002220013, ISSN: 0163-769X *
KNIGHT J C ET AL: "A polymorphism that affects OCT-1 binding to the TNF promoter region is associated with severe malaria [see comments]", NATURE GENETICS, NATURE AMERICA, NEW YORK, US, vol. 22, no. 2, June 1999 (1999-06-01), pages 145 - 150, XP002139041, ISSN: 1061-4036 *
KOTELEVTSEV YURI ET AL: "11beta-hydroxysteroid dehydrogenase type 1 knockout mice show attenuated glucocorticoid-inducible responses and resist hyperglycemia on obesity or stress.", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES, vol. 94, no. 26, 23 December 1997 (1997-12-23), Dec. 23, 1997, pages 14924 - 14929, XP002220014, ISSN: 0027-8424 *
RAJAN VIDYA ET AL: "11-beta-Hydroxysteroid dehydrogenase in cultured hippocampal cells reactivates inert 11-dehydrocorticosterone, potentiating neurotoxicity", JOURNAL OF NEUROSCIENCE, vol. 16, no. 1, 1996, pages 65 - 70, XP002263452, ISSN: 0270-6474 *
SECKL J R ET AL: "Enzymes, receptors and glucocorticoid action on the brain.", JOURNAL OF ENDOCRINOLOGY, vol. 156, no. SUPPL., March 1998 (1998-03-01), 17th Joint Meeting of the British Endocrine Societies;Edinburgh, Scotland, UK; March 23-25, 1998, pages S24, XP008009951, ISSN: 0022-0795 *
SEIGEL A T ET AL: "Homology modelling of the 11beta-hydroxysteroid dehydrogenase isozymes.", BRITISH JOURNAL OF PHARMACOLOGY, vol. 134, no. Proceedings Supplement, November 2001 (2001-11-01), Meeting of the British Pharmacological Society;Dublin, Ireland; July 03-05, 2001, pages 113P, XP001051165, ISSN: 0007-1188 *
VESELL E S: "INTRODUCTION", PHARMACOLOGY, XX, XX, vol. 61, no. 3, 2000, pages 118 - 123, XP008001593, ISSN: 0031-7012 *
WU GARY D ET AL: "Oct-1 and CCAAT/enhancer-binding protein (C/EBP) bind to overlapping elements within the interleukin-8 promoter. The role of Oct-1 as a transcriptional repressor.", JOURNAL OF BIOLOGICAL CHEMISTRY, vol. 272, no. 4, 1997, pages 2396 - 2403, XP002222664, ISSN: 0021-9258 *
YAU JOYCE L W ET AL: "Lack of tissue glucocorticoid reactivation in 11beta-hydroxysteroid dehydrogenase type 1 knockout mice ameliorates age-related learning impairments.", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES, vol. 98, no. 8, 10 April 2001 (2001-04-10), April 10, 2001, pages 4716 - 4721, XP002220012, ISSN: 0027-8424 *

Also Published As

Publication number Publication date
AU2003246438A1 (en) 2003-12-31
WO2003107008A2 (en) 2003-12-24
EP1514119A2 (en) 2005-03-16
AU2003246438A8 (en) 2003-12-31

Similar Documents

Publication Publication Date Title
Rabbani et al. The promise of whole-exome sequencing in medical genetics
Sobenin et al. Quantitative assessment of heteroplasmy of mitochondrial genome: perspectives in diagnostics and methodological pitfalls
Whitford et al. Proof of concept for multiplex amplicon sequencing for mutation identification using the MinION nanopore sequencer
EP1542009A1 (en) Method of detecting nucleic acid by using dna microarrays and nucleic acid detection apparatus
White et al. A roadmap for high‐throughput sequencing studies of wild animal populations using noninvasive samples and hybridization capture
WO2003089897A3 (en) Diagnosis and treatment of vascular disease
CA2511042A1 (en) Association of single nucleotide polymorphisms in ppar.gamma. with osteoporosis
CA2427471A1 (en) Nod2 nucleic acids and proteins
Shaw et al. Characterisation of genetic variation in ST8SIA2 and its interaction region in NCAM1 in patients with bipolar disorder
Licastro et al. Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures
Gao et al. Whole exome sequencing identifies a novel DFNA9 mutation, C162Y
EP1531180A4 (en) Method of diagnosing risk of myocardial infarction
Bigio et al. Detection of homozygous and hemizygous complete or partial exon deletions by whole-exome sequencing
Kim et al. A double‐screening method to identify reliable candidate non‐synonymous SNPs from chicken EST data
WO2004058051A3 (en) Androgen-regulated genes and uses for diagnosis, prognosis and treatment of prostate neoplastic conditions
Alders et al. Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis
US20170067110A1 (en) Detection method for genetic disease
Han et al. Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders
WO2003020118A3 (en) Diagnosis and treatment of vascular disease
Montanez‑Gonzalez et al. A PCR-RFLP method for genotyping of inversion 2R c in Anopheles coluzzii
Nowacka‐Woszuk et al. Deep sequencing of a candidate region harboring the SOX 9 gene for the canine XX disorder of sex development
WO1999057315A3 (en) Mmp-9 gene polymorphisms
WO2003060160A3 (en) Verification of fish origin based on nucleic acid pattern recognition
WO2003018835A3 (en) Method for rapid detection of haplotypes
KR102570462B1 (en) Asessment methods and diagnostic kit for depressive disorders in women using genetic biomarkers comprising the rs820148 region of the MYO15B gene

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 BY BZ CA CH CN CO CR CU CZ DE DK DM DZ EC EE ES FI GB GD GE GH GM HR HU ID IL IN IS JP KE KG KP KR KZ LC LK LR LS LT LU LV MA MD MG MK MN MW MX MZ NI NO NZ OM PG PH PL PT RO RU SC SD SE SG SK SL 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): GH GM KE LS MW MZ 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 IT LU MC NL PT RO SE SI SK TR BF BJ CF CG CI CM GA GN GQ GW ML MR NE SN TD TG

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

Ref document number: 2003759962

Country of ref document: EP

WWP Wipo information: published in national office

Ref document number: 2003759962

Country of ref document: EP

NENP Non-entry into the national phase

Ref country code: JP

WWW Wipo information: withdrawn in national office

Country of ref document: JP