DK2414543T3 - Genetiske markører til risikohåndtering af atrieflimren og slagtilfælde - Google Patents

Genetiske markører til risikohåndtering af atrieflimren og slagtilfælde Download PDF

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DK2414543T3
DK2414543T3 DK10758154.8T DK10758154T DK2414543T3 DK 2414543 T3 DK2414543 T3 DK 2414543T3 DK 10758154 T DK10758154 T DK 10758154T DK 2414543 T3 DK2414543 T3 DK 2414543T3
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risk
markers
allele
marker
stroke
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DK10758154.8T
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Hilma Holm
Daniel Gudbjartsson
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Decode Genetics Ehf
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    • 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
    • A61P7/00Drugs for disorders of the blood or the extracellular fluid
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    • 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
    • C12Q2600/106Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
    • 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
    • C12Q2600/118Prognosis of disease development
    • 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
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    • 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

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  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Engineering & Computer Science (AREA)
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Claims (10)

1. Fremgangsmåde til bestemmelse af en tilbøjelighed til en tilstand valgt fra gruppen bestående af: en hjertearytmi valgt blandt atrieflimren og atrieflagren, og slagtilfælde, i et menneskeligt individ, hvilken fremgangsmåde omfatter: detektering ved sekvensering og analyse af sekvensdata vedrørende mindst en polymorf markør i en prøve fra et menneskeligt individ fra en kaukasisk population, identificering af mindst en allel af mindst en polymorf markør, hvori forskellige alleler af den mindste ene polymorfe markør er associereret med forskellige tilbøjeligheder til tilstanden i mennesker, og bestemmelse af en tilbøjelighed til tilstanden ud fra sekvensdata, hvori den mindst ene polymorfe markør er valgt fra gruppen bestående af rs7193343, og markører i koblingsuligevægt med denne, hvori koblingsuligevægten mellem markører er karakteriseret ved værdier for r2 på mindste 0,8 i den kaukasiske HapMap-population.
2. Fremgangsmåden ifølge krav 1, hvori den mindst ene polymorfe markør er valgt fra gruppen bestående af rs7193343, og markører perfekt korreleret dermed (r2 = 1).
3. Fremgangsmåden ifølge krav 1 eller krav 2, hvori sekvensanalyse af den mindst ene polymorfe markør omfatter bestemmelse af tilstedeværelse eller fravær af mindst én allel af den mindste ene polymorfe markør.
4. Fremgangsmåden ifølge et hvilke som helst af de foregående krav, hvori bestemmelse af en tilbøjelighed omfatter sammenligning af sekvensdata med en database indeholdende korrelerede data mellem den mindst ene polymorfe markør og tilbøjelighed til tilstanden.
5. Fremgangsmåden ifølge krav 1 og 3-4, hvori den mindst ene polymorfe markør er valgt fra gruppen bestående af markørerne rs7193343 og rs719354.
6. Fremgangsmåden ifølge et hvilke som helst af de foregående krav, hvori den mindst ene allel er associeret med en forøget tilbøjelighed til tilstanden i mennesker.
7. Fremgangsmåden ifølge krav 6, hvori tilstedeværelsen af den mindst ene allel eller haplotype er indikativ for forøget tilbøjelighed med en relativ risiko på 1,10, mindst 1,11, mindst 1,12, mindst 1,13, mindst 1,14, mindst 1,15, mindst 1,16, mindst 1,17, mindst 1,18, mindst 1,19 eller or mindst 1,20.
8. Fremgangsmåden ifølge krav 6 eller krav 7, hvori den mindst ene allel er valgt fra gruppen bestående af T-allelen af rs7193343 og T-allelen af rs719354.
9. Apparat til bestemmelse af en genetisk indikator for en tilstand valgt fra gruppen bestående af: en hjertearytmi valgt blandt atrieflimren og atrieflagren, og slagtilfælde, i et menneskeligt individ fra en kaukasisk population, hvilket apparat omfatter: en processor; en computerlæsbar hukommelse, som har computer-eksekverbare instruktioner tilpasset til at blive eksekveret på processoren for at analysere markør- og/eller haplotype-information for mindst ét menneskeligt individ med hensyn til mindst én polymor markør valgt fra gruppen bestående af rs7193343, og markører i koblingsuligevægt med denne, hvori koblingsuligevægten er karakteriseret ved værdier for r2 på mindst 0,8 i den kaukasiske HapMap-population, og generere et output baseret på markør- eller haplotype-informationen, hvori outputtet omfatter et mål for tilbøjelighed af den mindste ene markør eller haplotype som en genetisk indikator for tilstanden hos det menneskelige individ.
10. Apparatet ifølge krav 9, hvori den mindst ene polymorfe markør er valgt fra gruppen bestående af markørerne rs7193343 og rs719354.
DK10758154.8T 2009-04-03 2010-03-30 Genetiske markører til risikohåndtering af atrieflimren og slagtilfælde DK2414543T3 (da)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
IS8813 2009-04-03
PCT/IS2010/050001 WO2010113185A1 (en) 2009-04-03 2010-03-30 Genetic markers for risk management of atrial fibrillation and stroke

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DK2414543T3 true DK2414543T3 (da) 2017-01-23

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US (1) US8795963B2 (da)
EP (1) EP2414543B1 (da)
CN (1) CN102449165B (da)
AU (1) AU2010231494B2 (da)
CA (1) CA2757384A1 (da)
DK (1) DK2414543T3 (da)
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NZ595918A (en) 2013-07-26
EP2414543A4 (en) 2012-11-14
WO2010113185A1 (en) 2010-10-07
CA2757384A1 (en) 2010-10-07
US20120021989A1 (en) 2012-01-26
EP2414543B1 (en) 2016-10-12
AU2010231494B2 (en) 2016-01-07
US8795963B2 (en) 2014-08-05
CN102449165B (zh) 2014-07-09
CN102449165A (zh) 2012-05-09
AU2010231494A1 (en) 2011-11-03
EP2414543A1 (en) 2012-02-08

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