DK2535424T3 - SNP'er forbundet med thromboembolisk sygdom - Google Patents
SNP'er forbundet med thromboembolisk sygdom Download PDFInfo
- Publication number
- DK2535424T3 DK2535424T3 DK11170235.3T DK11170235T DK2535424T3 DK 2535424 T3 DK2535424 T3 DK 2535424T3 DK 11170235 T DK11170235 T DK 11170235T DK 2535424 T3 DK2535424 T3 DK 2535424T3
- Authority
- DK
- Denmark
- Prior art keywords
- factor
- risk
- thrombosis
- thromboembolic
- venous
- Prior art date
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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
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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
- C12Q1/6813—Hybridisation assays
- C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
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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
- C12Q1/6813—Hybridisation assays
- C12Q1/6834—Enzymatic or biochemical coupling of nucleic acids to a solid phase
- C12Q1/6837—Enzymatic or biochemical coupling of nucleic acids to a solid phase using probe arrays or probe chips
-
- 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
- C12Q2600/106—Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
-
- 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
- C12Q2600/112—Disease subtyping, staging or classification
-
- 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
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- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Organic Chemistry (AREA)
- Health & Medical Sciences (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Wood Science & Technology (AREA)
- Zoology (AREA)
- Engineering & Computer Science (AREA)
- Genetics & Genomics (AREA)
- Analytical Chemistry (AREA)
- General Engineering & Computer Science (AREA)
- General Health & Medical Sciences (AREA)
- Microbiology (AREA)
- Biotechnology (AREA)
- Physics & Mathematics (AREA)
- Biochemistry (AREA)
- Molecular Biology (AREA)
- Immunology (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Biophysics (AREA)
- Pathology (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Investigating Or Analysing Biological Materials (AREA)
- Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
- Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
Claims (8)
1. Fremgangsmåde til vurdering af risikoen for thromboembolisk hændelse hos et subjekt eller til diagnosticering af udvikling af eller lidelse af en thromboembolisk sygdom eller hændelse hos et subjekt, omfattende trinnene af at bestemme, i en prøve isoleret fra subjektet, tilstedeværelsen af Serpin A10 (protein-Z-inhibitor) Arg67Stop (rs2232698), Serpin Cl (antithrombin) Ala384Ser (Cambridge II), faktor XII C46T (rsl801020), faktor XIII Val34Leu (rs5985), faktor II (prothrombin) G20210A (rsl799963), faktor V Leiden Arg506Gln (rs6025), faktor V Cambridge Arg306Thr, faktor V Hong Kong Arg306Gly, ABO-blodgruppe rs8176719, ABO-blodgruppe rs7853989, ABO-blodgruppe rs8176743 og ABO-blodgruppe rs8176750, hvilken er henholdsvis indikativ for en risiko for at få en thromboembolisk hændelse eller for udvikling af eller lidelse af en thromboembolisk sygdom eller hændelse.
2. Fremgangsmåde til identificering af et subjekt med behov for antikoagulant og/eller antitrombotisk terapi eller med behov for profylaktisk antitrombotisk og/eller antikoagulant terapi, omfattende trinnene af at bestemme, i en prøve isoleret fra subjektet, tilstedeværelsen i mindst én allel af polymorfismer Serpin A10 (protein-Z-inhibitor) Arg67Stop (rs2232698), Serpin Cl (antithrombin) Ala384Ser (Cambridge II), faktor XII C46T (rsl801020), faktor XIII Val34Leu (rs5985), faktor II (prothrombin) G20210A (rsl799963), faktor V Leiden Arg506Gln (rs6025), faktor V Cambridge Arg306Thr, faktor V Hong Kong Arg306Gly, ABO-blodgruppe rs8176719, ABO-blodgruppe rs7853989, ABO-blodgruppe rs8176743, og ABO-blodgruppe rs8176750, hvilken er indikativ for en nedsat respons for en antitrombotisk og/eller antikoagulant terapi eller for behov for tidlig og aggressiv antitrombotisk og/eller antikoagulant terapi eller for behov for profylaktisk antitrombotisk og/eller antikoagulant behandling.
3. Fremgangsmåde, som defineret i et hvilket som helst af krav 1 til 2, yderligere omfattende at bestemme én eller flere af en cardiovaskulær sygdoms- eller lidelsesrisikofaktor eller valgt fra gruppen bestående af alder, race, køn, legemsmasseindeks, ryger status, systolisk blodtryk, diastolisk blodtryk, hospitalsindlæggelse, immobilisation ved gipsbandagering, kirurgi, traume, oral svangerskabsforebyggelse eller hormon terapi, graviditet, længerevarende rejsen (> 2 timer), kollagen vaskulære sygdomme, hjertesvigt, ondartethed, medicinske behandlinger, myeloproliferative lidelser, nefrotisk syndrom, recidiverende spontan abort, abdominal fedme, diabetes mellitus, lavdensitetslipoprotein (LDL)-kolesterolniveau, højdensitetslipoprotein (HDL)-kolesterolniveau, kolesterolniveau, triglyceridniveauer, familiehistorie med thromboembolisk hændelse, graviditet og legemsmasseindeks.
4. Fremgangsmåde ifølge et hvilket som helst af krav 1 til 2, hvor prøven er en oral vævsprøve, et oralt skrab eller et oralt skyl, eller en biologisk væskeprøve, fortrinsvis saliva, urin eller blod.
5. Fremgangsmåde ifølge et hvilket som helst eller flere af kravene 1 til 4, hvor til- stedeværelsen eller fraværet af polynukleotidet identificeres ved at amplificere eller at fejle at amplificere et amplifikationsprodukt fra prøven, hvor amplifikationsproduktet fortrinsvist nedbrydes med et restriktionsenzym inden analyse og/eller, hvor SNP'en identificeres ved at hybridisere nukleinsyreprøven med et primer-mærke, som er en detekterbar del.
6. Fremgangsmåde ifølge et hvilket som helst eller flere af kravene 1 til 4, hvor tilstedeværelsen eller fraværet af polynukleotidet identificeres ved hybridisering til specifikke Hairloop™-prober SEQ ID NO:l til 24 påført et microarray.
7. Fremgangsmåde som defineret i et hvilket som helst af krav 1 til 6, hvor throm-boembolismesygdommen er valgt fra gruppen af fatalt eller non-fatalt myokardieinfarkt, slagtilfælde, transitoriske iskæmiske attaker, perifer arteriopati, dyb venethrombose, pul-monal embolisme eller en kombination deraf.
8. Computerprogram eller computerlæsbart medie indeholdende midler til at udføre en fremgangsmåde som defineret i et hvilket som helst af krav 1 til 7.
Applications Claiming Priority (1)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
EP11170235.3A EP2535424B1 (en) | 2011-06-16 | 2011-06-16 | SNPs associated with thromboemoblic disease |
Publications (1)
Publication Number | Publication Date |
---|---|
DK2535424T3 true DK2535424T3 (da) | 2015-09-14 |
Family
ID=46320920
Family Applications (2)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
DK11170235.3T DK2535424T3 (da) | 2011-06-16 | 2011-06-16 | SNP'er forbundet med thromboembolisk sygdom |
DK12728458.6T DK2721172T5 (da) | 2011-06-16 | 2012-06-13 | Tromboemboliske sygdomsmarkører |
Family Applications After (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
DK12728458.6T DK2721172T5 (da) | 2011-06-16 | 2012-06-13 | Tromboemboliske sygdomsmarkører |
Country Status (16)
Country | Link |
---|---|
US (2) | US9518297B2 (da) |
EP (3) | EP2535424B1 (da) |
AR (1) | AR086734A1 (da) |
AU (1) | AU2012269112B2 (da) |
BR (1) | BR112013032352A2 (da) |
CA (1) | CA2839368C (da) |
CL (1) | CL2013003605A1 (da) |
DK (2) | DK2535424T3 (da) |
DO (1) | DOP2013000296A (da) |
ES (2) | ES2547075T3 (da) |
MX (2) | MX349347B (da) |
NO (1) | NO2721172T3 (da) |
PE (1) | PE20141069A1 (da) |
PT (2) | PT2535424E (da) |
RU (1) | RU2606758C2 (da) |
WO (1) | WO2012171949A2 (da) |
Families Citing this family (17)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
PT2535424E (pt) | 2011-06-16 | 2015-10-29 | Gendiag Exe Sl | Snps associados a doença tromboembólica |
US10557170B2 (en) | 2011-06-16 | 2020-02-11 | Gendiag.Exe, S.L. | Thromboembolic disease markers |
CN105518146B (zh) | 2013-04-04 | 2022-07-15 | 哈佛学院校长同事会 | 利用CRISPR/Cas系统的基因组编辑的治疗性用途 |
BR112017020750A2 (pt) | 2015-03-27 | 2018-06-26 | Harvard College | células t modificadas e métodos de produção e utilização das mesmas |
WO2017097854A1 (en) * | 2015-12-08 | 2017-06-15 | Umc Utrecht Holding B.V. | Extracellular vesicle markers for stable angina and unstable angina |
ES2912156T3 (es) * | 2016-12-09 | 2022-05-24 | Gene Gender S R L | Método para predecir el riesgo de trombosis venosa profunda y embolia pulmonar asociado con preparaciones hormonales y niveles hormonales |
CA3046149A1 (en) * | 2016-12-09 | 2018-06-14 | Gene Predictis Sa | Method and kit for predicting the risk of deep vein thrombosis and pulmonary embolism |
WO2018195129A1 (en) | 2017-04-17 | 2018-10-25 | University Of Maryland, College Park | Embryonic cell cultures and methods of using the same |
EP3631016A1 (en) * | 2017-05-24 | 2020-04-08 | Genincode UK, Ltd. | Cancer-associated venous thromboembolic events |
CA3090339A1 (en) * | 2018-02-09 | 2019-08-15 | Genincode Uk, Ltd. | Prediction of pregnancy loss |
CN108642163B (zh) * | 2018-05-16 | 2021-10-22 | 江苏中济万泰生物医药有限公司 | 一种人类红细胞abo血型基因分型引物组及应用 |
RU2710213C1 (ru) * | 2018-12-17 | 2019-12-25 | Федеральное государственное бюджетное научное учреждение "Томский национальный исследовательский медицинский центр Российской академии наук" (Томский НИМЦ) | Способ определения вероятности церебральной и нецеребральной тромбоэмболии артерий большого круга кровообращения |
EA038901B1 (ru) * | 2019-09-27 | 2021-11-03 | Федеральное государственное бюджетное учреждение "Национальный медицинский исследовательский центр гематологии" Министерства здравоохранения Российской Федерации (ФГБУ "НМИЦ гематологии" Минздрава России) | Способ прогнозирования тромбоэмболических осложнений у женщин при носительстве мутаций гена протромбина [f2(20210)ga] |
RU2722986C1 (ru) * | 2019-12-24 | 2020-06-05 | Федеральное государственное бюджетное учреждение "Национальный медицинский исследовательский центр терапии и профилактической медицины" Министерства здравоохранения Российской Федерации (ФГБУ "НМИЦ ТПМ" Минздрава России) | Способ прогнозирования дополнительного риска тромбоэмболических осложнений у пациентов старческого возраста с фибрилляцией предсердий |
CN114410766A (zh) * | 2021-11-24 | 2022-04-29 | 广州知力医学诊断技术有限公司 | 一种血栓与出凝血性疾病检测panel及其应用 |
EP4194568A1 (en) * | 2021-12-10 | 2023-06-14 | Genincode Uk Limited | Covid-19-associated venous thromboembolism |
CN114214402B (zh) * | 2021-12-29 | 2024-02-09 | 江苏意诺飞生物科技有限公司 | 血液高凝或静脉血栓风险基因多态性检测引物组、试剂盒及检测方法和应用 |
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JP3163105B2 (ja) | 1994-02-14 | 2001-05-08 | リヤクス・ユニフアーシテイト・レイデン | 血栓症及び/又は活性化プロテインcに対する弱い抗凝血応答に関連した遺伝性欠陥の存在をスクリーニングする方法 |
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CA2417986C (en) * | 2000-08-11 | 2013-11-26 | University Of Utah Research Foundation | Single-labeled oligonucleotide probes |
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JP2007522804A (ja) * | 2004-01-15 | 2007-08-16 | ザ ガバメント オブ ザ ユナイテッド ステイツ オブ アメリカ アズ リプレゼンテッド バイ ザ セクレタリー オブ ザ デパートメント オブ ヘルス アンド ヒューマン サービシーズ | 血栓形成傾向の識別のために開発された方法(mert) |
WO2006075254A2 (en) * | 2005-01-13 | 2006-07-20 | Progenika Biopharma, S.A. | Methods and products for in vitro genotyping |
WO2008020090A1 (es) * | 2006-08-18 | 2008-02-21 | Laboratorios Indas, S.A. | Método y kit para diagnosticar el riesgo de desarrollar una enfermedad trombótica venosa |
PT2535424E (pt) | 2011-06-16 | 2015-10-29 | Gendiag Exe Sl | Snps associados a doença tromboembólica |
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2011
- 2011-06-16 PT PT111702353T patent/PT2535424E/pt unknown
- 2011-06-16 DK DK11170235.3T patent/DK2535424T3/da active
- 2011-06-16 ES ES11170235.3T patent/ES2547075T3/es active Active
- 2011-06-16 EP EP11170235.3A patent/EP2535424B1/en active Active
-
2012
- 2012-06-13 EP EP20140164550 patent/EP2799556A3/en not_active Withdrawn
- 2012-06-13 PE PE2013002819A patent/PE20141069A1/es not_active Application Discontinuation
- 2012-06-13 US US14/126,624 patent/US9518297B2/en active Active
- 2012-06-13 PT PT127284586T patent/PT2721172T/pt unknown
- 2012-06-13 DK DK12728458.6T patent/DK2721172T5/da active
- 2012-06-13 MX MX2013014622A patent/MX349347B/es active IP Right Grant
- 2012-06-13 RU RU2014101169A patent/RU2606758C2/ru not_active IP Right Cessation
- 2012-06-13 EP EP12728458.6A patent/EP2721172B1/en active Active
- 2012-06-13 NO NO12728458A patent/NO2721172T3/no unknown
- 2012-06-13 WO PCT/EP2012/061185 patent/WO2012171949A2/en active Application Filing
- 2012-06-13 MX MX2017009492A patent/MX360663B/es unknown
- 2012-06-13 BR BR112013032352-3A patent/BR112013032352A2/pt not_active IP Right Cessation
- 2012-06-13 CA CA2839368A patent/CA2839368C/en active Active
- 2012-06-13 AU AU2012269112A patent/AU2012269112B2/en not_active Ceased
- 2012-06-13 ES ES12728458.6T patent/ES2663943T3/es active Active
- 2012-06-15 AR ARP120102132A patent/AR086734A1/es unknown
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2013
- 2013-12-10 DO DO2013000296A patent/DOP2013000296A/es unknown
- 2013-12-16 CL CL2013003605A patent/CL2013003605A1/es unknown
-
2015
- 2015-10-19 US US14/886,463 patent/US10023914B2/en active Active
Also Published As
Publication number | Publication date |
---|---|
EP2721172A2 (en) | 2014-04-23 |
EP2721172B1 (en) | 2018-01-10 |
AR086734A1 (es) | 2014-01-22 |
CA2839368A1 (en) | 2012-12-20 |
CL2013003605A1 (es) | 2014-08-08 |
DK2721172T5 (da) | 2018-02-26 |
RU2606758C2 (ru) | 2017-01-10 |
US20140221230A1 (en) | 2014-08-07 |
MX2013014622A (es) | 2014-03-27 |
ES2663943T3 (es) | 2018-04-17 |
PT2535424E (pt) | 2015-10-29 |
EP2799556A3 (en) | 2015-04-08 |
MX349347B (es) | 2017-07-25 |
US9518297B2 (en) | 2016-12-13 |
NO2721172T3 (da) | 2018-06-09 |
DOP2013000296A (es) | 2014-03-31 |
WO2012171949A3 (en) | 2013-02-21 |
AU2012269112B2 (en) | 2015-09-03 |
PE20141069A1 (es) | 2014-09-06 |
EP2535424A1 (en) | 2012-12-19 |
US20160102355A1 (en) | 2016-04-14 |
CA2839368C (en) | 2018-12-04 |
PT2721172T (pt) | 2018-02-21 |
WO2012171949A2 (en) | 2012-12-20 |
BR112013032352A2 (pt) | 2018-10-30 |
DK2721172T3 (da) | 2018-02-19 |
ES2547075T3 (es) | 2015-10-01 |
RU2014101169A (ru) | 2015-07-27 |
AU2012269112A1 (en) | 2014-01-30 |
MX360663B (es) | 2018-11-13 |
EP2799556A2 (en) | 2014-11-05 |
US10023914B2 (en) | 2018-07-17 |
EP2535424B1 (en) | 2015-08-05 |
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