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WO2016005589A3 - Novel gene panel for the diagnosis of dilated cardiomyopathy - Google Patents

Novel gene panel for the diagnosis of dilated cardiomyopathy Download PDF

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Publication number
WO2016005589A3
WO2016005589A3 PCT/EP2015/065890 EP2015065890W WO2016005589A3 WO 2016005589 A3 WO2016005589 A3 WO 2016005589A3 EP 2015065890 W EP2015065890 W EP 2015065890W WO 2016005589 A3 WO2016005589 A3 WO 2016005589A3
Authority
WO
WIPO (PCT)
Prior art keywords
subject
sequence
dilated cardiomyopathy
dcm
risk
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/EP2015/065890
Other languages
French (fr)
Other versions
WO2016005589A2 (en
Inventor
Sebastian Schäfer
Norbert Huebner
Stuart A. Cook
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.)
Max Delbrueck Centrum fuer Molekulare in der Helmholtz Gemeinschaft
National University of Singapore
Original Assignee
Max Delbrueck Centrum fuer Molekulare in der Helmholtz Gemeinschaft
National University of Singapore
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 Max Delbrueck Centrum fuer Molekulare in der Helmholtz Gemeinschaft, National University of Singapore filed Critical Max Delbrueck Centrum fuer Molekulare in der Helmholtz Gemeinschaft
Publication of WO2016005589A2 publication Critical patent/WO2016005589A2/en
Publication of WO2016005589A3 publication Critical patent/WO2016005589A3/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
    • 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
    • C12Q2600/118—Prognosis of disease development
    • 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

Landscapes

  • 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)

Abstract

The application relates to a method for diagnosing dilated cardiomyopathy (DCM) in a subject or for assessing the risk of a subject to acquire DCM or the risk of heart failure comprising: (i) determining in a sample of a subject to be diagnosed the sequence of one or more polymorphisms in a (first) panel of genes, wherein the panel of genes comprises the genes of the group consisting of PIEZO1, PLEC, HELZ2, NACAD, PKD1, IGSF10, TNRC18, UNC13B, VWF, and XIRP2; (ii) comparing the determined sequence to the sequence of said polymorphism in a control derived from a control subject (control sequence), the control subject not suffering from dilated cardiomyopathy; and (iii) attributing the presence of dilated cardiomyopathy or the risk of acquiring DCM or the risk of heart failure to said subject to be diagnosed if one or more determined sequences differ from the respective sequence in said control sequence. Furthermore, the application relates to a kit or array for diagnosing dilated cardiomyopathy (DCM) in a subject or for assessing the risk of a subject to acquire DCM comprising means for determining the sequence of one or more polymorphisms in a (first) panel of genes comprising probes for detecting a one or more SNP within each gene of the first panel of genes.
PCT/EP2015/065890 2014-07-10 2015-07-10 Novel gene panel for the diagnosis of dilated cardiomyopathy Ceased WO2016005589A2 (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
EP14176611 2014-07-10
EP14176611.3 2014-07-10

Publications (2)

Publication Number Publication Date
WO2016005589A2 WO2016005589A2 (en) 2016-01-14
WO2016005589A3 true WO2016005589A3 (en) 2016-03-10

Family

ID=51162586

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/EP2015/065890 Ceased WO2016005589A2 (en) 2014-07-10 2015-07-10 Novel gene panel for the diagnosis of dilated cardiomyopathy

Country Status (1)

Country Link
WO (1) WO2016005589A2 (en)

Families Citing this family (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN106435002B (en) * 2016-12-12 2019-07-12 北京泱深生物信息技术有限公司 Oral squamous cell carcinoma biomarker and its application
CN107287317A (en) * 2017-07-10 2017-10-24 中国人民解放军第四军医大学 MYH7 A934V mutators are used for the application for preparing Diagnosis of Hypertrophic Cardiomyopathy kit

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2012107580A1 (en) * 2011-02-10 2012-08-16 INSERM (Institut National de la Santé et de la Recherche Médicale) In vitro diagnosis method for predicting a predisposition to cardiomyopathy

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2012107580A1 (en) * 2011-02-10 2012-08-16 INSERM (Institut National de la Santé et de la Recherche Médicale) In vitro diagnosis method for predicting a predisposition to cardiomyopathy

Non-Patent Citations (6)

* Cited by examiner, † Cited by third party
Title
"Genotyping Probeset Details, Page for Axiom_BioBank1:AX-83052633 Resources for arrays selected in Current Query Genome-Wide Human SNP Array 5.0", 1 January 2008 (2008-01-01), XP055212659, Retrieved from the Internet <URL:https://www.affymetrix.com/analysis/netaffx/> [retrieved on 20150910] *
ERIC VILLARD ET AL: "A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy", EUROPEAN HEART JOURNAL (ONLINE), OXFORD UNIVERSITY PRESS, GB, US, NL, vol. 32, no. 9, 1 May 2011 (2011-05-01), pages 1065 - 1076, XP002644271, ISSN: 1522-9645, [retrieved on 20110401], DOI: 10.1093/EURHEARTJ/EHR105 *
ID: "Genotyping Probeset Details for Axiom_BioBank1:AX-83528153 Resources for arrays selected in Current Query Genome-Wide Human SNP Array 5.0 SNP Probe Set", 1 January 2008 (2008-01-01), XP055212661, Retrieved from the Internet <URL:https://www.affymetrix.com/analysis/netaffx/> [retrieved on 20150910] *
MARIA C BOLLING ET AL: "PLEC1 Mutations Underlie Adult-Onset Dilated Cardiomyopathy in Epidermolysis Bullosa Simplex with Muscular Dystrophy", JOURNAL OF INVESTIGATIVE DERMATOLOGY, vol. 130, no. 4, 17 December 2009 (2009-12-17), pages 1178 - 1181, XP055214683, ISSN: 0022-202X, DOI: 10.1038/jid.2009.390 *
RAY E HERSHBERGER ET AL: "Update 2011: Clinical and Genetic Issues in Familial Dilated Cardiomyopathy", JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, ELSEVIER, NEW YORK, NY, US, vol. 57, no. 16, 31 January 2011 (2011-01-31), pages 1641 - 1649, XP028190026, ISSN: 0735-1097, [retrieved on 20110228], DOI: 10.1016/J.JACC.2011.01.015 *
TAM G W C ET AL: "The Role of DNA Copy Number Variation in Schizophrenia", BIOLOGICAL PSYCHIATRY, ELSEVIER SCIENCE, NEW YORK, NY; US, vol. 66, no. 11, 1 December 2009 (2009-12-01), pages 1005 - 1012, XP026746236, ISSN: 0006-3223, [retrieved on 20090912], DOI: 10.1016/J.BIOPSYCH.2009.07.027 *

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Publication number Publication date
WO2016005589A2 (en) 2016-01-14

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