IPC분류정보
국가/구분 |
United States(US) Patent
등록
|
국제특허분류(IPC7판) |
|
출원번호 |
US-0935753
(2009-04-01)
|
등록번호 |
US-8808985
(2014-08-19)
|
우선권정보 |
IS-8722 (2008-04-01) |
국제출원번호 |
PCT/IS2009/000002
(2009-04-01)
|
§371/§102 date |
20100930
(20100930)
|
국제공개번호 |
WO2009/122448
(2009-10-08)
|
발명자
/ 주소 |
- Thorgeirsson, Thorgeir
- Sulem, Patrick
- Geller, Frank
- Magnusson, Kristinn P.
|
출원인 / 주소 |
|
대리인 / 주소 |
Marshall, Gerstein & Borun LLP
|
인용정보 |
피인용 횟수 :
0 인용 특허 :
18 |
초록
▼
The present invention discloses certain genetic variants as susceptibility variants for peripheral arterial disease (PAD) and abdominal aortic aneurysm (AAA). The invention relates to risk management using such variants. The invention further relates to kits for use in risk assessment of PAD and AAA
The present invention discloses certain genetic variants as susceptibility variants for peripheral arterial disease (PAD) and abdominal aortic aneurysm (AAA). The invention relates to risk management using such variants. The invention further relates to kits for use in risk assessment of PAD and AAA.
대표청구항
▼
1. A method for determining a susceptibility to peripheral arterial disease or abdominal aortic aneurysm in a human individual, the method comprising: analyzing polymorphic marker rs1051730 in a nucleic acid sample from the human individual,detecting the presence of allele T of polymorphic marker rs
1. A method for determining a susceptibility to peripheral arterial disease or abdominal aortic aneurysm in a human individual, the method comprising: analyzing polymorphic marker rs1051730 in a nucleic acid sample from the human individual,detecting the presence of allele T of polymorphic marker rs1051730 in the sample,determining an increased genetic susceptibility to peripheral arterial disease or abdominal aortic aneurysm for the individual attributable to the presence of allele T of polymorphic marker rs1051730 in the sample, andperforming vascular imaging, segmental pressure measurement, or pulse volume recording on the individual identified as having the increased genetic susceptibility, to monitor the development, progress, and/or appearance of symptoms of peripheral arterial disease or performing angiography or ultrasound imaging on the individual identified as having the increased genetic susceptibility to abdominal aortic aneurism, to monitor the development, progress, and/or appearance of symptoms of abdominal aortic aneurism. 2. The method of claim 1, further comprising calculating a risk score for peripheral arterial disease or abdominal aortic aneurysm for the individual that includes an odds ratio or a relative risk of at least 1.15 attributed to allele T of rs1051730 being present in the sample. 3. The method of claim 1, wherein the individual is of an ancestry that includes Caucasian ancestry as self-reported by the individual. 4. The method of claim 1, further comprising reporting the increased genetic susceptibility to at least one entity selected from the group consisting of the individual, a guardian of the individual, a genetic service provider, a physician, a medical organization, and a medical insurer. 5. The method of claim 1 further comprising analyzing non-genetic information from the individual to make risk assessment, diagnosis, or prognosis of the individual for peripheral arterial disease or abdominal aortic aneurysm. 6. The method of claim 5, wherein the non-genetic information is selected from age, gender, ethnicity, socioeconomic status, smoking history, medical history, family history of peripheral arterial disease or abdominal aortic aneurysm, biochemical measurements, and clinical measurements. 7. The method of claim 5, further comprising calculating overall risk. 8. The method according to claim 1, wherein the determining of the increased genetic susceptibility includes calculating a risk measure with an apparatus, comprising: a processor anda computer readable memory having computer executable instructions adapted to be executed on the processor to analyze marker information for at least one human individual with respect to at least one polymorphic marker, wherein the polymorphic marker comprises rs1051730, and generate an output based on the marker information, wherein the output comprises a risk measure of the at least one marker as a genetic indicator of peripheral arterial disease or abdominal aortic aneurysm for the human individual. 9. The method according to claim 8, wherein the computer readable memory further comprises data indicative of the risk of developing peripheral arterial disease or abdominal aortic aneurysm associated with at least one allele of the at least one polymorphic marker, and wherein a risk measure for the human individual is based on a comparison of the marker status for the human individual to the risk of peripheral arterial disease or abdominal aortic aneurysm that is associated with the at least one allele of the at least one polymorphic marker. 10. The method according to claim 8, wherein the computer readable memory further comprises data indicative of the frequency of at least one allele of the at least one polymorphic marker in a plurality of individuals diagnosed with peripheral arterial disease or abdominal aortic aneurysm, and data indicative of the frequency of at the least-one allele of the at least one polymorphic marker in a plurality of reference individuals, and wherein risk of developing peripheral arterial disease or abdominal aortic aneurysm is based on a comparison of the frequency of the at least one allele in individuals diagnosed with peripheral arterial disease or abdominal aortic aneurysm and the frequency in the reference individuals. 11. The method of claim 1, wherein the individual is one who has not been diagnosed with peripheral arterial disease or abdominal aortic aneurysm. 12. The method of claim 1, further comprising communicating the determination of susceptibility to at least one person selected from the human individual, a guardian of the individual, a physician or other healthcare worker, a medical organization, a medical insurer or a genetic service provider. 13. The method according to claim 12, wherein the communication comprises making the determination of susceptibility available to the at least one person via a secure web site. 14. The method of claim 1, wherein the step of analyzing comprises at least one nucleic acid analysis technique selected from: polymerase chain reaction, allele-specific hybridization, allele-specific primer extension, allele-specific amplification, nucleic acid sequencing, 5′-exonuclease digestion, molecular beacon assay, oligonucleotide ligation assay, size analysis, and single-stranded conformation analysis. 15. The method of claim 2, further comprising communicating the risk score to at least one person selected from the human individual, a guardian of the individual, a physician or other healthcare worker, a medical organization, a medical insurer or a genetic service provider. 16. The method according to claim 1 that comprises: determining an increased genetic susceptibility to peripheral arterial disease, andperforming at least one of vascular imaging, segmental pressure measurement, and pulse volume recording. 17. The method according to claim 1 that comprises performing at least one of angiography and ultrasound imaging. 18. The method according to claim 1, wherein the individual is a tobacco smoker, and wherein the determining of increased susceptibility comprises determining an increased genetic susceptibility compared to smokers who lack the T allele of polymorphic marker rs1051730. 19. The method according to claim 5, wherein the non-genetic information comprises smoking history. 20. The method according to claim 1 that comprises determining increased genetic susceptibility to peripheral arterial disease. 21. The method according to claim 1 that comprises determining increased genetic susceptibility to abdominal aortic aneurysm. 22. The method according to claim 1 that comprises determining an increased susceptibility to peripheral arterial disease and determining an increased susceptibility to abdominal aortic aneurysm for the individual.
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