WO2016114662A3 - Annexin a2 snp and von willebrand disease - Google Patents

Annexin a2 snp and von willebrand disease Download PDF

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Publication number
WO2016114662A3
WO2016114662A3 PCT/NL2016/050030 NL2016050030W WO2016114662A3 WO 2016114662 A3 WO2016114662 A3 WO 2016114662A3 NL 2016050030 W NL2016050030 W NL 2016050030W WO 2016114662 A3 WO2016114662 A3 WO 2016114662A3
Authority
WO
WIPO (PCT)
Prior art keywords
von willebrand
willebrand disease
annexin
snp
determining
Prior art date
Application number
PCT/NL2016/050030
Other languages
French (fr)
Other versions
WO2016114662A2 (en
Inventor
Waander Laurens Van Heerde
Original Assignee
Stichting Katholieke Universiteit
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 Stichting Katholieke Universiteit filed Critical Stichting Katholieke Universiteit
Publication of WO2016114662A2 publication Critical patent/WO2016114662A2/en
Publication of WO2016114662A3 publication Critical patent/WO2016114662A3/en

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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
    • 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
    • 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
    • G01N2333/00—Assays involving biological materials from specific organisms or of a specific nature
    • G01N2333/435—Assays involving biological materials from specific organisms or of a specific nature from animals; from humans
    • G01N2333/46—Assays involving biological materials from specific organisms or of a specific nature from animals; from humans from vertebrates
    • G01N2333/47—Assays involving proteins of known structure or function as defined in the subgroups
    • G01N2333/4701—Details
    • G01N2333/4718—Lipocortins
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2405/00—Assays, e.g. immunoassays or enzyme assays, involving lipids
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/22—Haematology
    • G01N2800/222—Platelet disorders
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/50—Determining the risk of developing a disease

Landscapes

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

Abstract

The present disclosure relates to an in vitro method for determining Von Willebrand Disease or an increased risk of developing Von Willebrand Disease. The method involves determining whether a point mutation at a defined position is present or absent in the ANXA2 gene sequence. Also disclosed is a kit for determining Von Willebrand Disease or an increased risk of developing Von Willebrand Disease comprising means for determining the point mutation.
PCT/NL2016/050030 2015-01-14 2016-01-13 Annexin a2 snp and von willebrand disease WO2016114662A2 (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
NL2014136A NL2014136B1 (en) 2015-01-14 2015-01-14 Annexin A2 SNP and von Willebrand Disease.
NL2014136 2015-01-14

Publications (2)

Publication Number Publication Date
WO2016114662A2 WO2016114662A2 (en) 2016-07-21
WO2016114662A3 true WO2016114662A3 (en) 2016-09-22

Family

ID=52781247

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/NL2016/050030 WO2016114662A2 (en) 2015-01-14 2016-01-13 Annexin a2 snp and von willebrand disease

Country Status (2)

Country Link
NL (1) NL2014136B1 (en)
WO (1) WO2016114662A2 (en)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN110396540B (en) * 2019-04-30 2023-06-09 广州普世利华科技有限公司 Method for detecting hemophilia gene mutation site

Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2009080303A1 (en) * 2007-12-21 2009-07-02 Csl Behring Gmbh Diagnostic in vitro method for assessing von willebrand disease and increased bleeding risk associated with von willebrand disease and acquired or congenital disorders of platelet function
WO2009143633A1 (en) * 2008-05-30 2009-12-03 Institut De Recherches Cliniques De Montreal Pcsk9 inhibitors and methods of use thereof
WO2011119235A1 (en) * 2010-03-24 2011-09-29 Glendon John Parker Methods for conducting genetic analysis using protein polymorphism

Patent Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2009080303A1 (en) * 2007-12-21 2009-07-02 Csl Behring Gmbh Diagnostic in vitro method for assessing von willebrand disease and increased bleeding risk associated with von willebrand disease and acquired or congenital disorders of platelet function
WO2009143633A1 (en) * 2008-05-30 2009-12-03 Institut De Recherches Cliniques De Montreal Pcsk9 inhibitors and methods of use thereof
WO2011119235A1 (en) * 2010-03-24 2011-09-29 Glendon John Parker Methods for conducting genetic analysis using protein polymorphism

Non-Patent Citations (13)

* Cited by examiner, † Cited by third party
Title
BRUNZELL J D ET AL: "Lipoprotein Management in Patients With Cardiometabolic Risk", JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY,, vol. 51, no. 15, 15 April 2008 (2008-04-15), ELSEVIER, NEW YORK, NY, US, pages 1512 - 1524, XP022593652, ISSN: 0735-1097, DOI: 10.1016/J.JACC.2008.02.034 *
CHANDLER WAYNE L ET AL: "Von Willebrand factor assay proficiency testing. The North American Specialized Coagulation Laboratory Association experience.", AMERICAN JOURNAL OF CLINICAL PATHOLOGY, vol. 135, no. 6, June 2011 (2011-06-01), pages 862 - 869, XP002743462, ISSN: 1943-7722 *
FAVALORO E J ET AL: "DEVELOPMENT OF A SIMPLE COLLAGEN BASED ELISA ASSAY AIDS IN THE DIAGNOSIS OF, AND PERMITS SENSITIVE DISCRIMINATION BETWEEN TYPE 1 AND TYPE II, VON WILLEBRAND'S DISEASE", BLOOD COAGULATION & FIBRINOLYSIS, RAPID COMMUNICATIONS, vol. 2, no. 2, 1 January 1991 (1991-01-01), OXFORD, OXFORD, GB, pages 285 - 291, XP000916134, ISSN: 0957-5235, DOI: 10.1097/00001721-199104000-00011 *
FAVALORO EMMANUEL J ET AL: "Reducing errors in identification of von Willebrand disease: the experience of the royal college of pathologists of australasia quality assurance program.", SEMINARS IN THROMBOSIS AND HEMOSTASIS, vol. 32, no. 5, July 2006 (2006-07-01), pages 505 - 513, XP009185806, ISSN: 0094-6176 *
HABERICHTER S L ET AL: "Assay of the von Willebrand factor (VWF) propeptide to identify patients with type 1 von Willebrand disease with decreased VWF survival", BLOOD, vol. 108, no. 10, 15 November 2006 (2006-11-15), AMERICAN SOCIETY OF HEMATOLOGY, US, pages 3344 - 3351, XP002570482, ISSN: 0006-4971 *
LAGACE THOMAS A: "PCSK9 and LDLR degradation: regulatory mechanisms in circulation and in cells.", CURRENT OPINION IN LIPIDOLOGY OCT 2014, vol. 25, no. 5, October 2014 (2014-10-01), pages 387 - 393, XP002743458, ISSN: 1473-6535 *
LISITSKAYA K V ET AL: "Study of Single-Nucleotide Polymorphism in Seven Genes (GHR, IGFBP3, IGFR1, IRS1, FMN1, ANXA2, TAGLN) in Ethnic Russians and Patients with Prostate Cancer", MOLECULAR GENETICS MICROBIOLOGY AND VIROLOGY, vol. 25, no. 2, June 2010 (2010-06-01), pages 84 - 88, XP002743461 *
LY KÉVIN ET AL: "Annexin A2 reduces PCSK9 protein levels via a translational mechanism and interacts with the M1 and M2 domains of PCSK9.", THE JOURNAL OF BIOLOGICAL CHEMISTRY, vol. 289, no. 25, 20 June 2014 (2014-06-20), pages 17732 - 17746, XP002743460, ISSN: 1083-351X *
MAYER GAÉTAN ET AL: "Annexin A2 is a C-terminal PCSK9-binding protein that regulates endogenous low density lipoprotein receptor levels.", THE JOURNAL OF BIOLOGICAL CHEMISTRY, vol. 283, no. 46, 14 November 2008 (2008-11-14), pages 31791 - 31801, XP002743459, ISSN: 0021-9258 *
NITU-WHALLEY I C ET AL: "IDENTIFICATION OF TYPE 2 VON WILLEBRAND DISEASE IN PREVIOUSLY DIAGNOSED TYPE 1 PATIENTS: A REAPPRAISAL USING PHENOTYPES, GENOTYPES AND MOLECULAR MODELLING", THROMBOSIS AND HAEMOSTASIS, vol. 84, no. 6, 1 December 2000 (2000-12-01), SCHATTAUER GMBH, DE, pages 998 - 1004, XP008066031, ISSN: 0340-6245 *
S. BENJANNET ET AL: "Loss- and Gain-of-function PCSK9 Variants: CLEAVAGE SPECIFICITY, DOMINANT NEGATIVE EFFECTS, AND LOW DENSITY LIPOPROTEIN RECEPTOR (LDLR) DEGRADATION", JOURNAL OF BIOLOGICAL CHEMISTRY, vol. 287, no. 40, 8 August 2012 (2012-08-08), pages 33745 - 33755, XP055145308, ISSN: 0021-9258, DOI: 10.1074/jbc.M112.399725 *
SANJAY PANDEY ET AL: "Effect of ANXA2 gene single nucleotide polymorphism (SNP) on the development of osteonecrosis in Indian sickle cell patient: a PCR-RFLP approach", INDIAN JOURNAL OF EXPERIMENTAL BIOLOGY, vol. 50, no. 7, 1 July 2012 (2012-07-01), IN, pages 455 - 458, XP055208108, ISSN: 0019-5189 *
SEIDAH NABIL G ET AL: "Annexin A2 is a natural extrahepatic inhibitor of the PCSK9-induced LDL receptor degradation.", PLOS ONE, vol. 7, no. 7, E41865, 27 July 2012 (2012-07-27), pages 1 - 13, XP002743457, ISSN: 1932-6203, DOI: 10.1371/journal.pone.0041865 *

Also Published As

Publication number Publication date
NL2014136A (en) 2016-09-26
NL2014136B1 (en) 2017-01-27
WO2016114662A2 (en) 2016-07-21

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