DK2535424T3 - SNP'er forbundet med thromboembolisk sygdom - Google Patents
SNP'er forbundet med thromboembolisk sygdom Download PDFInfo
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- 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
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- thrombosis
- thromboembolic
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- 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
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- 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
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- C12Q2600/00—Oligonucleotides characterized by their use
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- C12Q2600/00—Oligonucleotides characterized by their use
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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.
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| EP11170235.3A EP2535424B1 (en) | 2011-06-16 | 2011-06-16 | SNPs associated with thromboemoblic disease |
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| DK12728458.6T DK2721172T5 (da) | 2011-06-16 | 2012-06-13 | Tromboemboliske sygdomsmarkører |
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| DK2535424T3 (da) | 2011-06-16 | 2015-09-14 | Gendiag Exe Sl | SNP'er forbundet med thromboembolisk sygdom |
| US10557170B2 (en) | 2011-06-16 | 2020-02-11 | Gendiag.Exe, S.L. | Thromboembolic disease markers |
| EP4286517A3 (en) | 2013-04-04 | 2024-03-13 | President and Fellows of Harvard College | Therapeutic uses of genome editing with crispr/cas systems |
| BR112017020750A2 (en) | 2015-03-27 | 2018-06-26 | President And Fellows Of Harvard College | modified t-cells and methods of producing and using them |
| US20200166524A1 (en) * | 2015-12-08 | 2020-05-28 | Umc Utrecht Holding B.V. | Extracellular vesicle markers for stable angina and unstable angina |
| 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 |
| WO2018104549A1 (en) * | 2016-12-09 | 2018-06-14 | Gene Predictis Sa | Method for predicting the risk of deep vein thrombosis and pulmonary embolism associated with hormonal preparations and hormone levels |
| US11913015B2 (en) | 2017-04-17 | 2024-02-27 | 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 |
| WO2019154996A1 (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 |
| CN116052770A (zh) * | 2022-07-20 | 2023-05-02 | 中日友好医院(中日友好临床医学研究所) | 基于多基因突变的vte风险评估模型、构建方法及应用 |
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| US20050026168A1 (en) * | 2002-12-13 | 2005-02-03 | Genesis Group Inc. | Method for the detection of risk factors associated with myocardial infarction |
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| CA2546171A1 (en) | 2003-11-17 | 2005-05-26 | Tm Bioscience Corporation | Method of detecting mutations associated with thrombosis |
| EP1704253A1 (en) * | 2004-01-15 | 2006-09-27 | THE GOVERNMENT OF THE UNITED STATES OF AMERICA, as represented by THE SECRETARY, DEPARTMENT OF HEALTH AND HUMAN SERVICES | Method evolved for recognition of thrombophilia (mert) |
| JP2008526249A (ja) * | 2005-01-13 | 2008-07-24 | プロジェニカ・バイオファーマ・エス・アー | ｉｎｖｉｔｒｏ遺伝子タイピングのための方法および製品 |
| 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 |
| DK2535424T3 (da) | 2011-06-16 | 2015-09-14 | Gendiag Exe Sl | SNP'er forbundet med thromboembolisk sygdom |
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- 2012-06-13 EP EP12728458.6A patent/EP2721172B1/en active Active
- 2012-06-13 RU RU2014101169A patent/RU2606758C2/ru not_active IP Right Cessation
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| US20140221230A1 (en) | 2014-08-07 |
| ES2663943T3 (es) | 2018-04-17 |
| EP2799556A3 (en) | 2015-04-08 |
| AU2012269112B2 (en) | 2015-09-03 |
| CA2839368C (en) | 2018-12-04 |
| AU2012269112A1 (en) | 2014-01-30 |
| PT2535424E (pt) | 2015-10-29 |
| DK2721172T3 (da) | 2018-02-19 |
| RU2606758C2 (ru) | 2017-01-10 |
| WO2012171949A3 (en) | 2013-02-21 |
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| DOP2013000296A (es) | 2014-03-31 |
| PT2721172T (pt) | 2018-02-21 |
| EP2721172B1 (en) | 2018-01-10 |
| CL2013003605A1 (es) | 2014-08-08 |
| US9518297B2 (en) | 2016-12-13 |
| NO2721172T3 (da) | 2018-06-09 |
| EP2799556A2 (en) | 2014-11-05 |
| RU2014101169A (ru) | 2015-07-27 |
| MX349347B (es) | 2017-07-25 |
| EP2535424B1 (en) | 2015-08-05 |
| WO2012171949A2 (en) | 2012-12-20 |
| US10023914B2 (en) | 2018-07-17 |
| EP2721172A2 (en) | 2014-04-23 |
| MX360663B (es) | 2018-11-13 |
| BR112013032352A2 (pt) | 2018-10-30 |
| US20160102355A1 (en) | 2016-04-14 |
| AR086734A1 (es) | 2014-01-22 |
| PE20141069A1 (es) | 2014-09-06 |
| CA2839368A1 (en) | 2012-12-20 |
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