Association of polymorphic kinase anchor proteins with cardiac phenotypes and related methods
First Claim
Patent Images
1. A method for indicating increased susceptibility of a subject to a disease or disorder, comprising:
- conducting an EKG examination;
determining the EKG-PR-interval in the subject, wherein, if the EKG-PR-interval is decreased, then determining the amino acid present in the subject at position 646 of AKAP10/D-AKAP2 (SEQ ID NO;
2) or the nucleotide present at position corresponding to nucleotide 2073 of SEQ ID NO;
1, wherein the presence of Val at position 646 of SEQ ID NO;
2 or the presence of a -G- at nucleotide position 2073 of SEQ ID NO;
1, indicates increased susceptibility to a disease or disorder.
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Abstract
Polymorphic A-kinase anchor proteins (AKAPs) and nucleic acids encoding the proteins are provided herein. Methods of detecting polymorphic AKAPs and nucleic acids encoding the AKAPs, and kits for use in the detection methods are also provided. Further provided herein are methods of identifying subjects having or at risk of developing diseases or disorders, such as those related to signal transduction and/or cardiovascular disease. Methods of determining susceptibility to morbidity and/or increased or early mortality are also provided.
111 Citations
62 Claims
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1. A method for indicating increased susceptibility of a subject to a disease or disorder, comprising:
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conducting an EKG examination;
determining the EKG-PR-interval in the subject, wherein, if the EKG-PR-interval is decreased, then determining the amino acid present in the subject at position 646 of AKAP10/D-AKAP2 (SEQ ID NO;
2) or the nucleotide present at position corresponding to nucleotide 2073 of SEQ ID NO;
1, wherein the presence of Val at position 646 of SEQ ID NO;
2 or the presence of a -G- at nucleotide position 2073 of SEQ ID NO;
1, indicates increased susceptibility to a disease or disorder. - View Dependent Claims (2, 3, 4, 5, 6, 7, 24, 25, 26, 49, 50, 51, 52)
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8. A method for indicating increased susceptibility of a subject to a disease or disorder associated with the cardiovascular system, comprising:
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conducting an EKG exam;
determining the EKG-PR-interval in the subject, wherein, if the EKG-PR-interval is decreased, then determining the amino acid present at position 646 of AKAP10/D-AKAP2 (SEQ ID NO;
2) or the nucleotide present at position corresponding to nucleotide 2073 of SEQ ID NO;
1, wherein the presence of Val at position 646 of SEQ ID NO;
2 or the presence of a -G- at nucleotide position 2073 of SEQ ID NO;
1, indicates increased susceptibility to a disease or disorder associated with the cardiovascular system. - View Dependent Claims (9, 10, 11, 12, 13)
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14-23. -23. (canceled)
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27-29. -29. (canceled)
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30. A method for determining responsiveness of a subject to one or more β
- -blocking agents, comprising;
detecting for the subject the presence or absence of Val at position 646 of SEQ ID NO;
2 or a -G- nucleotide at a position corresponding to position 2073 of SEQ ID NO;
1, wherein the presence of a Val at position 646 of SEQ ID NO;
2 or a -G- at nucleotide 2073 of SEQ ID NO;
1, is indicative of an increased likelihood that a subject has a modulated response to one or more β
-blocking agents compared to a subject who does not have the allelic variant. - View Dependent Claims (31, 32, 33, 34, 35)
- -blocking agents, comprising;
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36. A method for determining responsiveness of a subject to one or more β
- -blocking agents, comprising;
detecting the presence or absence of Val at position 646 of SEQ ID NO;
2 or a -G- nucleotide at a position corresponding to position 2073 of SEQ ID NO;
1, wherein the presence of a Val at position 646 of SEQ ID NO;
2 or a -G- at nucleotide 2073 of SEQ ID NO;
1, is indicative of an increased likelihood that a subject has an increased response to one or more β
-blocking agents compared to a subject who does not have the allelic variant. - View Dependent Claims (37, 38)
- -blocking agents, comprising;
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39. A method for determining responsiveness of a subject to one or more β
- -blocking agents, comprising;
detecting for the subject the presence or absence of Val at position 646 of SEQ ID NO;
2 or a -G- nucleotide at a position corresponding to position 2073 of SEQ ID NO;
1, wherein the presence of a Val at position 646 of SEQ ID NO;
2 or a -G- at nucleotide 2073 of SEQ ID NO;
1, is indicative of an increased likelihood that a subject is non-responsive to one or more β
-blocking agents compared to a subject who does not have the allelic variant. - View Dependent Claims (40, 41)
- -blocking agents, comprising;
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42. A method for determining responsiveness of a subject to one or more β
- -blocking agents, comprising;
detecting the presence or absence of Val at position 646 of SEQ ID NO;
2 or a -G- nucleotide at a position corresponding to position 2073 of SEQ ID NO;
1, wherein the presence of a Val at position 646 of SEQ ID NO;
2 or a -G- at nucleotide 2073 of SEQ ID NO;
1, is indicative of an increased likelihood that a subject is hyper-responsive to one or more β
-blocking agents compared to a subject who does not have the allelic variant. - View Dependent Claims (43, 44)
- -blocking agents, comprising;
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45. A method for indicating susceptibility to morbidity, increased or early mortality, or morbidity and increased or early mortality of a subject;
- comprising;
conducting an EKG exam;
determining the EKG-PR-interval in the subject, wherein if the EKG-PR-interval is decreased;
thendetermining the amino acid at position 646 of AKAP10/D-AKAP2 (SEQ ID NO;
2) or the nucleotide present at position corresponding to nucleotide 2073 of SEQ ID NO;
1, wherein the presence of Val at position 646 of SEQ ID NO;
2 or the presence of a -G- at nucleotide position 2073 of SEQ ID NO;
1, indicates increased susceptibility to morbidity, increased or early mortality, or morbidity and increased or early mortality of a subject. - View Dependent Claims (46, 47)
- comprising;
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48. (canceled)
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53. A method for indicating increased susceptibility of a subject to a disease or disorder, comprising:
in a subject determined to have a decreased EKG-PR-interval, determining the amino acid present at position 646 of AKAP10/D-AKAP2 (SEQ ID NO;
2) or the nucleotide present at position corresponding to nucleotide 2073 of SEQ ID NO;
1, wherein the presence of Val at position 646 of SEQ ID NO;
2 or the presence of a -G- at nucleotide position 2073 of SEQ ID NO;
1, indicates increased susceptibility to a disease or disorder.
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54-58. -58. (canceled)
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60. A method for indicating increased susceptibility of a subject to a disease or disorder, comprising:
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conducting an EKG examination;
determining the EKG-PR-interval in the subject, wherein, if the EKG-PR-interval is decreased, then determining the amino acid present in the subject at position 249 of AKAP10/D-AKAP2 (SEQ ID NO;
2) or the nucleotide present at position corresponding to nucleotide 883 of SEQ ID NO;
1, wherein the presence of His at position 249 of SEQ ID NO;
2 or the presence of a -A- at nucleotide position 883 of SEQ ID NO;
1, indicates increased susceptibility to a disease or disorder. - View Dependent Claims (62)
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61. A method for determining responsiveness of a subject to one or more β
- -blocking agents, comprising;
detecting for the subject the presence or absence of His at position 249 of SEQ ID NO;
2 or a -A- nucleotide at a position corresponding to position 883 of SEQ ID NO;
1, wherein the presence of a His at position 249 of SEQ ID NO;
2 or a -A- at nucleotide 883 of SEQ ID NO;
1, is indicative of an increased likelihood that a subject has a modulated response to one or more β
-blocking agents compared to a subject who does not have the allelic variant.
- -blocking agents, comprising;
Specification