Thromboembolic disease markers
Inventors
Salas, Eduardo • Soria, José Manuel • Ogorelkova, Miroslava • Elosua Llanos, Roberto • Vila, Joan • Castillo Fernandez, Sergio
Assignees
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Publication Number
US-10557170-B2
Publication Date
2020-02-11
Expiration Date
Abstract
The invention relates to a method for a more appropriate thromboembolic event risk assessment based on the presence of different genetic variant. The invention also relates to a method for determining the risk of suffering a thromboembolism disease by combining the absence or presence of one or more polymorphic markers in a sample from the subject with conventional risk factors for thromboembolism as well as computer-implemented means for carrying out said method.
Core Innovation
The invention relates to assessing thromboembolic event risk and supporting diagnosis for treatment by determining, in a sample isolated from a human subject, the presence or absence of a defined panel of genetic polymorphisms. The polymorphisms include Serpin A10 (protein Z inhibitor) Arg67Stop (rs2232698), Serpin CI (antithrombin) Ala384Ser (Cambridge II), factor XIIC46T (rs1801020), factor XIII Va134Leu (rs5985), Factor II (prothrombin) G20210A (rs1799963), factor V Leiden Arg506Gln (rs6025), factor V Cambridge Arg306Thr, factor V Hong Kong Arg306Gly, and ABO blood group rs8176719, rs7853989, rs8176743, and rs8176750.
A method is provided in which at least one of the specified polymorphisms is detected in the subject and the subject is identified with at least one of said polymorphisms for treatment. The identification is followed by administering to the identified subject an anticoagulant and/or antithrombotic therapy.
The disclosed approach integrates genetic polymorphism detection with conventional sociodemographic/clinical risk factors using computational risk models. Genetic risk score concepts are described through presence/absence of risk alleles and risk interactions, and the resulting personalized risk probabilities are used to aid diagnosis and to support prevention and/or thrombo-prophylactic decision making.
Claims Coverage
The independent claims provide a treatment-support method in which a specified genetic polymorphism panel is determined in a human subject, at least one polymorphism is detected, and the subject is identified for anticoagulant and/or antithrombotic therapy. The independent claim includes a defined polymorphism set and links detection to therapeutic identification and administration.
Polymorphism panel determination and detection
Determining in a sample isolated from a human subject the presence or absence of a specified panel of polymorphisms including Serpin A10 (protein Z inhibitor) Arg67Stop (rs2232698), Serpin CI (antithrombin) Ala384Ser (Cambridge II), factor XIIC46T (rs1801020), factor XIII Va134Leu (rs5985), Factor II (prothrombin) G20210A (rs1799963), factor V Leiden Arg506Gln (rs6025), factor V Cambridge Arg306Thr, factor V Hong Kong Arg306Gly, and ABO blood group rs8176719, rs7853989, rs8176743, and rs8176750; detecting the presence of at least one of said polymorphisms in said subject.
Identification for treatment based on polymorphism presence
Identifying the subject with at least one of said polymorphisms for treatment.
Anticoagulant and/or antithrombotic therapy administration
Administering to the subject identified in step c) an anticoagulant and/or antithrombotic therapy.
Across the independent claim, the core coverage is directed to determining a defined genetic polymorphism panel in a human sample, detecting at least one polymorphism, identifying the subject with at least one polymorphism for treatment, and administering an anticoagulant and/or antithrombotic therapy.
Stated Advantages
Improved predictive performance compared with Factor V Leiden and/or prothrombin alone, as reported using metrics including OR and c-statistics/AUC and NRI/IDI.
Documented Applications
Risk assessment and diagnosis assistance for thromboembolic events by detecting a panel of genetic polymorphisms and supporting prevention and/or thrombo-prophylactic decision making.
Treatment identification and administration of anticoagulant and/or antithrombotic therapy for a human subject identified with at least one of the specified polymorphisms.
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