Diagnosis and treatment of vascular disease
First Claim
1. A method for identifying a subject as a candidate for a particular clinical course of therapy to treat a vascular disease or disorder comprising the steps of:
- a) determining the identity of the nucleotides present at nucleotide positions 157790 and 159908 of SEQ ID NO;
1, or the complements thereof; and
b) identifying the subject as a candidate for a particular clinical course of therapy based on the identity the nucleotides present at nucleotide positions 157790 and 159908 of SEQ ID NO;
1, or the complements thereof.
3 Assignments
0 Petitions
Accused Products
Abstract
The present invention is based at least in part on the discovery of polymorphisms within the endothelin-1 (EDN1) gene. Accordingly, the invention provides nucleic acid molecules having a nucleotide sequence of an allelic variant of an EDN1 gene. The invention also provides methods for identifying specific alleles of polymorphic regions of an EDN1 gene, methods for determining whether a subject has or is at risk of developing a disease which is associated with a specific allele of a polymorphic region of an EDN1 gene, e.g., a vascular disease, based on detection of one or more polymorphisms within the EDN1 gene, and kits for performing such methods. The invention further provides methods for identifying a subject who has, or is at risk for developing, a vascular disease or disorder as a candidate for a particular clinical course of therapy or a particular diagnostic evaluation. The invention further provides methods for selecting a clinical course of therapy or a diagnostic evaluation to treat a subject who is at risk for developing, a vascular disease or disorder.
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Citations
130 Claims
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1. A method for identifying a subject as a candidate for a particular clinical course of therapy to treat a vascular disease or disorder comprising the steps of:
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a) determining the identity of the nucleotides present at nucleotide positions 157790 and 159908 of SEQ ID NO;
1, or the complements thereof; and
b) identifying the subject as a candidate for a particular clinical course of therapy based on the identity the nucleotides present at nucleotide positions 157790 and 159908 of SEQ ID NO;
1, or the complements thereof. - View Dependent Claims (2, 3, 4, 5, 6, 7)
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8. A method for identifying a subject who is a candidate for further diagnostic evaluation for a vascular disease or disorder comprising the steps of:
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a) determining the identity of the nucleotides present at nucleotide positions 157790 and 159908 of SEQ ID NO;
1, or the complements thereof; and
b) identifying the subject as a subject who is a candidate for further diagnostic evaluation for a vascular disease or disorder based on the identity of the nucleotides present at nucleotide positions 157790 and 159908 of SEQ ID NO;
1, or the complements thereof. - View Dependent Claims (9, 10, 11, 12)
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13. A method for selecting a clinical course of therapy to treat a subject who is at risk for developing a vascular disease or disorder comprising the steps of:
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a) determining the identity of the nucleotides present at nucleotide positions 157790 and 159908 of SEQ ID NO;
1, or the complements thereof; and
b) selecting a clinical course of therapy for treatment of a subject who is at risk for developing a vascular disease or disorder based on the identity of the nucleotides present at nucleotide positions 157790 and 159908 of SEQ ID NO;
1, or the complements thereof. - View Dependent Claims (14, 15, 16, 17, 18, 19)
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20. A method for determining whether a subject will benefit from implantation of a stent comprising the steps of:
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a) determining the identity of the nucleotides present at nucleotide positions 157790 and 159908 of SEQ ID NO;
1, or the complements thereof; and
b) determining whether a subject will benefit from implantation of a stent based on the identity of the nucleotides present at nucleotide positions 157790 and 159908 of SEQ ID NO;
1, or the complements thereof. - View Dependent Claims (21)
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22. A method for determining whether a subject will benefit from use of a vascular imaging procedure comprising the steps of:
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a) determining the identity of the nucleotides present at nucleotide positions 157790 and 159908 of SEQ ID NO;
1, or the complements thereof; and
b) determining whether a subject will benefit from use of a vascular imaging procedure based on the identity of the nucleotides present at nucleotide positions 157790 and 159908 of SEQ ID NO;
1, or the complements thereof. - View Dependent Claims (23, 24)
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25. A method for determining whether a subject will benefit from a surgical procedure comprising the steps of:
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a) determining the identity of the nucleotides present at nucleotide positions 157790 and 159908 of SEQ ID NO;
1, or the complements thereof; and
b) determining whether a subject will benefit from a surgical procedure based on the identity of the nucleotides present at nucleotide positions 157790 and 159908 of SEQ ID NO;
1, or the complements thereof. - View Dependent Claims (26, 27)
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28. A method for selecting an effective vascular imaging device as a diagnostic tool in a subject comprising the steps of:
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a) determining the identity of the nucleotides present at nucleotide positions 157790 and 159908 of SEQ ID NO;
1, or the complements thereof, andb) selecting an effective vascular imaging device as a diagnostic tool for said subject based on the identity of the nucleotides present at nucleotide positions 157790 and 159908 of SEQ ID NO;
1, or the complements thereof. - View Dependent Claims (29, 30)
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31. A computer readable medium for storing instructions for performing a computer implemented method for determining whether or not a subject has a predisposition to a vascular disease or disorder, said instructions comprising the functionality of:
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obtaining information from the subject indicative of the presence or absence of the polymorphic region of an EDN1 gene, and based on the presence or absence of the polymorphic region of an EDN1 gene, determining whether or not the subject has a predisposition to a vascular disease or disorder.
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32. A computer readable medium for storing instructions for performing a computer implemented method for identifying a predisposition to a vascular disease or disorder, said instructions comprising the functionality of:
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obtaining information regarding the presence or absence of the polymorphic region of an EDN1 gene, and based on the presence or absence of the polymorphic region of an EDN1 gene, identifying a predisposition to a vascular disease or disorder.
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33. An electronic system comprising a processor for determining whether or not a subject has a predisposition to a vascular disease or disorder, said processor implementing the functionality of:
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obtaining information from the subject indicative of the presence or absence of the polymorphic region of an EDN1 gene, and based on the presence or absence of the polymorphic region of an EDN1 gene, determining whether or not the subject has the predisposition to a vascular disease or disorder. - View Dependent Claims (35, 36)
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34. An electronic system comprising a processor for performing a method for identifying a predisposition to a vascular disease or disorder in a subject, said processor implementing the functionality of:
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obtaining information from the subject indicative of the presence or absence of the polymorphic region of an EDN1 gene, and based on the presence or absence of the polymorphic region of an EDN1 gene, performing a method for identifying a predisposition to a vascular disease or disorder associated with the polymorphic region.
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37. A network system for identifying a predisposition to a vascular disease or disorder in response to information submitted by an individual, said system comprising means for:
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receiving data from the individual regarding the presence or absence of the polymorphic region of an EDN1 gene, and based on the presence or absence of the polymorphic region, determining whether or not the subject has the predisposition to the vascular disease or disorder associated with the polymorphic region. - View Dependent Claims (39)
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38. A network system for identifying whether or not a subject has a predisposition to a vascular disease or disorder, said system comprising means for:
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receiving information from the subject regarding the polymorphic region of an EDN1 gene, receiving phenotypic information associated with the subject, acquiring additional information from the network, and based on one or more of the phenotypic information, the polymorphic region, and the acquired information, determining whether or not the subject has a pre-disposition to a vascular disease or disorder associated with a polymorphic region of an EDN1 gene.
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40. A method for determining whether a subject has a pre-disposition to a vascular disease or disorder associated with a polymorphic region of an EDN1 gene, said method comprising the steps of:
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receiving information associated with the polymorphic region of an EDN1 gene, receiving phenotypic information associated with the subject, acquiring information from the network corresponding to an EDN1 gene, and based on one or more of the phenotypic information, the polymorphic region, and the acquired information, determining whether the subject has a pre-disposition to a vascular disease or disorder associated with a polymorphic region of an EDN1 gene.
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- 41. A method for diagnosing or aiding in the diagnosis of a vascular disease or disorder in a subject comprising the steps of determining the EDN1 genetic profile of the subject, thereby diagnosing or aiding in the diagnosis of a vascular disease or disorder.
- 45. A method for selecting the appropriate drug to administer to a subject who has, or is at risk of developing, a vascular disease or disorder, comprising determining the molecular structure of at least a portion of an EDN1 gene of the subject.
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48. A method for treating a subject having a disease or condition associated with specific allelic variants of an EDN1 gene, comprising the steps of:
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(a) determining the identity of EDN1 allelic variants associated with vascular disease; and
(b) administering to the subject a compound that modulates EDN1 gene expression or protein activity. - View Dependent Claims (49)
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50. A method of diagnosing or aiding in the diagnosis of a vascular disease in a subject comprising the steps of:
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(a) obtaining a nucleic acid sample from the subject; and
(b) determining the identity of the nucleotides at nucleotide positions 157790 and 159908 of SEQ ID NO;
1, or the complement thereof,wherein the presence at least one copy of a C at nucleotide position 157790 of GI 2791272 in combination with at least one copy of a G at nucleotide position 159908 of GI 2791272, or the complements thereof, or at least one copy of T at nucleotide position 157790 of GI 2791272 in combination with at least one copy of T at nucleotide position 159908 of GI 2791272, or the complements thereof, is indicative of increased likelihood of a vascular disease in the subject as compared with a subject having any other combination of these alleles. - View Dependent Claims (51, 52, 53)
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54. A method for predicting the likelihood that a subject will have a vascular disease, comprising the steps of:
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(a) obtaining a nucleic acid sample from the subject; and
(b) determining the identity of the nucleotides at nucleotide positions 157790 and 159908 of SEQ ID NO;
1, or the complement thereof,wherein the presence of at least one copy of a C at nucleotide position 157790 of GI 2791272, in combination with at least one copy of a G at nucleotide position 159908 of GI 2791272, or the complements thereof, or at least one copy of T at nucleotide position 157790 of GI 2791272, in combination with at least one copy of T at nucleotide position 159908 of GI 2791272, or the complements thereof, is indicative of increased likelihood of a vascular disease in the subject as compared with a subject having any other combination of these alleles. - View Dependent Claims (55, 56, 57)
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58. An isolated nucleic acid molecule comprising a nucleotide sequence comprising at least two allelic variants of a polymorphic region of an EDN1 gene, or the complements thereof, and allelic variants in linkage disequilibrium therewith, wherein the allelic variants differ from the reference sequence set forth in SEQ ID NO:
- 1, and wherein the allelic variants are associated with vascular disease.
- View Dependent Claims (59, 60, 61)
- 62. A method for determining the identity of one or more allelic variants of a polymorphic region of an EDN1 gene in a nucleic acid obtained from a subject, comprising contacting a sample nucleic acid from the subject with probes or primers having sequences which are complementary to an EDN1 gene sequence, wherein the sample comprises an EDN1 gene sequence, thereby determining the identity of one or more of the allelic variants.
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73. An Internet-based method for assessing a subject'"'"'s risk for vascular disease, the method comprising:
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a) analyzing biological information from a subject indicative of the presence or absence of a polymorphic region of EDN1;
b) providing results of the analysis to the subject via the Internet, wherein the presence of a polymorphic region of EDN1 indicates an increased risk for vascular disease.
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74. A method of assessing a subject'"'"'s risk for vascular disease, the method comprising:
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a) obtaining biological information from the individual;
b) analyzing the information to obtain the subject'"'"'s EDN1 genetic profile;
c) representing the EDN1 genetic profile information as digital genetic profile data;
d) electronically processing the EDN1 digital genetic profile data to generate a risk assessment report for vascular disease, wherein the presence of a polymorphic region of EDN1 indicates an increased risk for vascular disease; and
e) displaying the risk assessment report on an output device. - View Dependent Claims (76, 77, 78)
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75. A method of assessing a subject'"'"'s risk for vascular disease, the method comprising:
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a) obtaining the subject'"'"'s EDN1 genetic profile information as digital genetic profile data;
b) electronically processing the EDN1 digital genetic profile data to generate a risk assessment report for vascular disease, wherein the presence of a polymorphic region of EDN1 indicates an increased risk for vascular disease; and
c) displaying the risk assessment report on an output device. - View Dependent Claims (79, 80)
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81. A medical information system for assessing a subject'"'"'s risk for vascular disease comprising:
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a) means for obtaining biological information from the individual to obtain an EDN1 genetic profile;
b) means for representing the EDN1 genetic profile as digital molecular data;
c) means for electronically processing the EDN1 digital genetic profile to generate a risk assessment report for vascular disease; and
d) means for displaying the risk assessment report on an output device, wherein the presence of a polymorphic region of EDN1 indicates an increased risk for vascular disease.
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82. A medical information system for assessing a subject'"'"'s risk for vascular disease comprising:
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a) means for representing the subject'"'"'s EDN1 genetic profile data as digital molecular data;
b) means for electronically processing the EDN1 digital genetic profile to generate a risk assessment report for vascular disease; and
c) means for displaying the risk assessment report on an output device, wherein the presence of a polymorphic region of EDN1 indicates an increased risk for vascular disease.
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83. A computerized method of providing medical advice to a subject comprising:
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a) analyzing biological information from a subject to determine the subject'"'"'s EDN1 genetic profile;
b) based on the subject'"'"'s EDN1 genetic profile, determining the subject'"'"'s risk for vascular disease;
c) based on the subject'"'"'s risk for vascular disease, electronically providing medical advice to the subject. - View Dependent Claims (85, 86, 87)
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84. A computerized method of providing medical advice to a subject comprising:
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a) based on the subject'"'"'s EDN1 genetic profile, determining the subject'"'"'s risk for vascular disease;
b) based on the subject'"'"'s risk for vascular disease, electronically providing medical advice to the subject.
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88. A method for self-assessing risk for a vascular disease comprising
a) providing biological information for genetic analysis; b) accessing an electronic output device displaying results of the genetic analysis, thereby self-assessing risk for a vascular disease, wherein the presence of a polymorphic region of EDN1 indicates an increased risk for vascular disease. - View Dependent Claims (95, 96, 97, 98)
- 89. A method for self-assessing risk for a vascular disease comprising accessing an electronic output device displaying results of a genetic analysis of a biological sample, wherein the presence of a polymorphic region of EDN1 indicates an increased risk for vascular disease, thereby self-assessing risk for a vascular disease.
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90. A method of self-assessing risk for vascular disease, the method comprising
a) providing biological information; b) accessing EDN1 digital genetic profile data obtained from the biological information, the EDN1 digital genetic profile data being displayed via an output device, wherein the presence of a polymorphic region of EDN1 indicates an increased risk for vascular disease.
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91. A method of self-assessing risk for vascular disease, the method comprising accessing EDN1 digital genetic profile data obtained from biological information, the EDN1 digital genetic profile data being displayed via an output device, wherein the presence of a polymorphic region of EDN1 indicates an increased risk for vascular disease.
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99. A method for a health care provider to generate a personal health assessment report for an individual, the method comprising counseling the individual to provide a biological sample;
- authorizing a draw station to take a biological sample from the individual and transmit molecular information from the sample to a laboratory company, wherein the molecular information comprises the presence or absence of a polymorphic region of EDN1;
requesting the laboratory company to provide digital molecular data corresponding to the molecular information to a medical information system to electronically process the digital molecular data and digital health data obtained from the individual to generate a health assessment report;
receiving the health assessment report from the medical information system; and
providing the health assessment report to the individual.
- authorizing a draw station to take a biological sample from the individual and transmit molecular information from the sample to a laboratory company, wherein the molecular information comprises the presence or absence of a polymorphic region of EDN1;
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100. A method for a health care provider to generate a personal health assessment report for an individual, the method comprising requesting a laboratory company to provide digital molecular data corresponding to the molecular information derived from a biological sample from the individual to a medical information system to electronically process the digital molecular data and digital health data obtained to generate a health assessment report;
- receiving the health assessment report from the medical information system; and
providing the health assessment report to the individual.
- receiving the health assessment report from the medical information system; and
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101. A method of assessing the health of an individual, the method comprising:
- obtaining health information from the individual using an input device;
representing at least some of the health information as digital health data;
obtaining biological information from the individual, wherein the information comprises the presence or absence of a polymorphic region of EDN1;
representing at least some of the information as digital molecular data;
electronically processing the digital molecular data and digital health data to generate a health assessment report; and
displaying the health assessment report on an output device. - View Dependent Claims (102, 103, 104, 105, 106, 107, 108, 109, 110, 111, 112, 113, 114, 115, 116, 117, 118, 119, 120, 121, 122, 123, 124, 125, 126, 127, 128, 129, 130)
- obtaining health information from the individual using an input device;
Specification