Method for detecting polymorphisms
Inventors
Salas Pérez-Rasilla, Eduardo • Marrugat De La Iglesia, Jaume • Elosua Llanos, Roberto • Castillo Fernandez, Sergio • Salgado Gómez, Joan • Ordovás Munoz, Jose Maria
Assignees
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Publication Number
US-9957565-B2
Publication Date
2018-05-01
Expiration Date
Abstract
The invention relates to a method for determining the risk of suffering a cardiovascular disease based on the presence of different polymorphisms as well as to kits for practicing the above method. The invention also relates to a method for determining the risk of suffering a cardiovascular disease by combining the absence or presence of one or more polymorphic markers in a sample from the subject with conventional risk factors for CVD as well as computer-implemented means for carrying out said method.
Core Innovation
The invention relates to a method of detecting polymorphisms in a biological sample isolated from a human subject, where the polymorphisms are at position 27 within each of defined nucleic acid sequences of SEQ ID NO:1, SEQ ID NO:3, SEQ ID NO:7, SEQ ID NO:8, SEQ ID NO:9, and SEQ ID NO:10. The disclosed approach identifies the polymorphism at position 27 based on direct sequencing of nucleic acids in the sample, or based on detecting hybridization or lack of hybridization with a set of nucleic acid probes corresponding to the specified sequences.
The disclosed method supports cardiovascular risk assessment and therapy selection by using SNPs/polymorphic markers at nucleotide position 27 within the nucleic acid sequences SEQ ID NO:1-11. Specific alleles at position 27 are asserted to indicate increased risk of adverse cardiovascular disease and/or low therapy response, and to support identifying subjects for early/aggressive or prophylactic cardiovascular therapy.
The disclosure further provides computer-implemented risk calculations that combine genetic allele counts/scores derived from the position-27 polymorphism detection with conventional cardiovascular risk factors. It states that hazard ratio-based and survival-based probability models are used for risk determination, and that risk calculations can be executed by a computer program on computer-readable media.
Claims Coverage
The partial content provides one independent claim directed to detecting polymorphisms at position 27 in specified SEQ ID nucleic acid sequences, with two alternative assay routes and defined nucleotide variants.
Position 27 polymorphism detection in defined SEQ ID sequences by sequencing
Assaying the biological sample isolated from a human subject for the presence of polymorphisms at position 27 within each of the nucleic acid sequences of SEQ ID NO:1, SEQ ID NO:3, SEQ ID NO:7, SEQ ID NO:8, SEQ ID NO:9, and SEQ ID NO:10 by direct sequencing of nucleic acids in the sample, and detecting the polymorphisms at position 27 within those sequences based on the sequencing.
Position 27 polymorphism detection in defined SEQ ID sequences by probe hybridization
Assaying the biological sample isolated from a human subject for the presence of polymorphisms at position 27 within each of the nucleic acid sequences of SEQ ID NO:1, SEQ ID NO:3, SEQ ID NO:7, SEQ ID NO:8, SEQ ID NO:9, and SEQ ID NO:10 by detecting hybridization or lack of hybridization of the nucleic acid sequences with a set of nucleic acid probes, and detecting the polymorphisms at position 27 based on the hybridization or lack of hybridization.
Defined nucleotide variants at position 27 across SEQ ID NO:1, 3, and 7-10
Defining that the polymorphism at position 27 within the nucleic acid sequences of SEQ ID NOs:1 and 3 and 7-10 is a C in SEQ ID NO:1, C in SEQ ID NO:3, T in SEQ ID NO:7, C in SEQ ID NO:8, C in SEQ ID NO:9, and T in SEQ ID NO:10.
Across the independent claim, the core coverage is the assay of a human biological sample for polymorphisms at nucleotide position 27 within specified SEQ ID sequences using either direct sequencing or probe hybridization/lack of hybridization, together with a defined mapping of the position-27 nucleotide variants for the included SEQ ID NOs.
Stated Advantages
Supports identifying subjects for early/aggressive or prophylactic cardiovascular therapy.
Indicates increased risk of adverse cardiovascular disease and/or low therapy response.
Documented Applications
Cardiovascular risk assessment and therapy-selection based on SNPs/polymorphic markers at nucleotide position 27 within nucleic acid sequences SEQ ID NO:1-11.
Identifying subjects for early/aggressive or prophylactic cardiovascular therapy using position-27 allele information.
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