WO2004065931A2 - Techniques permettant de diagnostiquer l'osteoporose ou une vulnerabilite a l'osteoporose fondees sur la liaison bmp2 et coliai - Google Patents

Techniques permettant de diagnostiquer l'osteoporose ou une vulnerabilite a l'osteoporose fondees sur la liaison bmp2 et coliai Download PDF

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Publication number
WO2004065931A2
WO2004065931A2 PCT/US2004/001087 US2004001087W WO2004065931A2 WO 2004065931 A2 WO2004065931 A2 WO 2004065931A2 US 2004001087 W US2004001087 W US 2004001087W WO 2004065931 A2 WO2004065931 A2 WO 2004065931A2
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WO
WIPO (PCT)
Prior art keywords
haplotype
allele
collal
osteoporosis
nucleic acid
Prior art date
Application number
PCT/US2004/001087
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English (en)
Other versions
WO2004065931A3 (fr
Inventor
Unnur Styrkarsdottir
Struan F. Grant
Jean-Baptiste Cazier
Jeffrey R. Gulcher
Original Assignee
Decode Genetics Ehf.
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Publication date
Application filed by Decode Genetics Ehf. filed Critical Decode Genetics Ehf.
Publication of WO2004065931A2 publication Critical patent/WO2004065931A2/fr
Publication of WO2004065931A3 publication Critical patent/WO2004065931A3/fr

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    • 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
    • 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
    • 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
    • C12Q2600/172—Haplotypes

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

Abstract

La présente invention concerne des techniques permettant de diagnostiquer l'ostéoporose ou une vulnérabilité à l'ostéoporose fondées sur la détection d'haplotypes à risque associés à BMP2 et au polymorphisme Spl de ColIa1.
PCT/US2004/001087 2003-01-16 2004-01-15 Techniques permettant de diagnostiquer l'osteoporose ou une vulnerabilite a l'osteoporose fondees sur la liaison bmp2 et coliai WO2004065931A2 (fr)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US44076603P 2003-01-16 2003-01-16
US60/440,766 2003-01-16

Publications (2)

Publication Number Publication Date
WO2004065931A2 true WO2004065931A2 (fr) 2004-08-05
WO2004065931A3 WO2004065931A3 (fr) 2004-09-02

Family

ID=32771859

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2004/001087 WO2004065931A2 (fr) 2003-01-16 2004-01-15 Techniques permettant de diagnostiquer l'osteoporose ou une vulnerabilite a l'osteoporose fondees sur la liaison bmp2 et coliai

Country Status (1)

Country Link
WO (1) WO2004065931A2 (fr)

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN115873943A (zh) * 2023-02-13 2023-03-31 山东大学 骨形态发生蛋白2在子痫前期诊断、预防和治疗中的应用

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2000015839A1 (fr) * 1998-09-10 2000-03-23 Erasmus Universiteit Rotterdam Methode permettant de determiner la susceptibilite aux lesions osseuses par detection de polymorphismes dans le gene du recepteur de la vitamine d
US20020072066A1 (en) * 2000-09-14 2002-06-13 Decode Genetics Ehf. Iceland Human osteoporosis gene

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2000015839A1 (fr) * 1998-09-10 2000-03-23 Erasmus Universiteit Rotterdam Methode permettant de determiner la susceptibilite aux lesions osseuses par detection de polymorphismes dans le gene du recepteur de la vitamine d
US20020072066A1 (en) * 2000-09-14 2002-06-13 Decode Genetics Ehf. Iceland Human osteoporosis gene

Non-Patent Citations (10)

* Cited by examiner, † Cited by third party
Title
DONG S ET AL: "FLEXIBLE USE OF HIGH-DENSITY OLIGONUCLEOTIDE ARRAYS FOR SINGLE-NUCLEOTIDE POLYMORPHISM DISCOVERY AND VALIDATION" GENOME RESEARCH, COLD SPRING HARBOR LABORATORY PRESS, US, vol. 11, no. 8, 2001, pages 1418-1424, XP001039177 ISSN: 1088-9051 *
GIGUÈRE Y ET AL: "The genetics of osteoporosis: 'complexities and difficulties'." CLINICAL GENETICS. DENMARK MAR 2000, vol. 57, no. 3, March 2000 (2000-03), pages 161-169, XP002286261 ISSN: 0009-9163 *
GRANT S F A ET AL: "REDUCED BONE DENSITY AND OSTEOPOROSIS ASSOCIATED WITH A POLYMORPHICSP1 BINDING SITE IN THE COLLAGEN TYPE I ALPHA 1 GENE" NATURE GENETICS, NEW YORK, NY, US, vol. 14, October 1996 (1996-10), pages 203-205, XP000867512 ISSN: 1061-4036 cited in the application *
GUO Z ET AL: "DIRECT FLUORESCENCE ANALYSIS OF GENETIC POLYMORPHISMS BY HYBRIDIZATION WITH OLIGONUCLEOTIDE ARRAYS ON GLASS SUPPORTS" NUCLEIC ACIDS RESEARCH, OXFORD UNIVERSITY PRESS, SURREY, GB, vol. 22, no. 24, 1994, pages 5456-5465, XP008018942 ISSN: 0305-1048 *
LINDBLAD-TOH K ET AL: "LOSS-OF-HETEROZYGOSITY ANALYSIS OF SMALL-CELL LUNG CARCINOMAS USING SINGLE-NUCLEOTIDE POLYMORPHISM ARRAYS" NATURE BIOTECHNOLOGY, NATURE PUBLISHING, US, vol. 18, no. 9, September 2000 (2000-09), pages 1001-1005, XP001063318 ISSN: 1087-0156 *
MANN V ET AL: "A COL1A1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality." THE JOURNAL OF CLINICAL INVESTIGATION. UNITED STATES APR 2001, vol. 107, no. 7, April 2001 (2001-04), pages 899-907, XP002286258 ISSN: 0021-9738 *
MCGUIGAN F E ET AL: "Susceptibility to osteoporotic fracture is determined by allelic variation at the Sp1 site, rather than other polymorphic sites at the COL1A1 locus." OSTEOPOROSIS INTERNATIONAL: A JOURNAL ESTABLISHED AS RESULT OF COOPERATION BETWEEN THE EUROPEAN FOUNDATION FOR OSTEOPOROSIS AND THE NATIONAL OSTEOPOROSIS FOUNDATION OF THE USA. ENGLAND 2000, vol. 11, no. 4, 2000, pages 338-343, XP002286257 ISSN: 0937-941X *
RALSTON STUART H: "Genetic control of susceptibility to osteoporosis." THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM. UNITED STATES JUN 2002, vol. 87, no. 6, June 2002 (2002-06), pages 2460-2466, XP002286260 ISSN: 0021-972X *
STYRKARSDOTTIR UNNUR ET AL: "Linkage of osteoporosis to chromosome 20p12 and association to BMP2." PLOS BIOLOGY, vol. 1, no. 3 Cited December 31, 2003, December 2003 (2003-12), pages 351-360, XP002286259 *
UITTERLINDEN A G ET AL: "INTERACTION BETWEEN THE VITAMIN D RECEPTOR GENE AND COLLAGEN TYPE IALPHA1 GENE IN SUSCEPTIBILITY FOR FRACTURE" JOURNAL OF BONE AND MINERAL RESEARCH, NEW YORK, NY, US, vol. 16, no. 2, February 2001 (2001-02), pages 379-385, XP009015684 ISSN: 0884-0431 *

Cited By (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN115873943A (zh) * 2023-02-13 2023-03-31 山东大学 骨形态发生蛋白2在子痫前期诊断、预防和治疗中的应用
CN115873943B (zh) * 2023-02-13 2024-03-29 山东大学 骨形态发生蛋白2在子痫前期诊断、预防和治疗中的应用

Also Published As

Publication number Publication date
WO2004065931A3 (fr) 2004-09-02

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