# US 2010/0167947 A1 · Polymorphisms in Genes Affecting Ace-Related Disorders and Uses Thereof > Agents: this data is available as JSON from the patentgrep API and MCP server — see https://patentgrep.com/llms.txt - Number: US 2010/0167947 A1 - Document ID: US20100167947A1 - Status: Published application - Kind: A1 - Application number: 12/598,265 - Filed: 2008-04-30 - Published: 2010-07-01 - Earliest claimed: 2007-04-30 - Assignees: The Ohio State University Research Foundation - Inventors: Wolfgang Sadee; Andrew D. Johnson; Danxin Wang; Audrey C. Papp - Web page: https://patentgrep.com/patent/US20100167947A1 ## CPC - C12Q 1/6883: for diseases caused by alterations of genetic material - C12Q 2600/106: Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism - C12Q 2600/154: Methylation markers - C12Q 2600/156: Polymorphic or mutational markers - C12Q 2600/158: Expression markers - C12Q 2600/16: Primer sets for multiplex assays - C12Q 2600/172: Haplotypes - C12Q: MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS (immunoassay G01N33/53); COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES ## Abstract A method for predicting a subject's risk factors for ACE-related disorders includes detecting the allelic status of one or more polymorphisms in a nucleic acid sample of the subject. ## Claims ### Claim 1 A method for predicting a subject's risk factors for an ACE-related disorder, the method comprising detecting the allelic status of one or more polymorphisms in a nucleic acid sample of the subject, wherein the polymorphism is one or more of: (i) ACE-associated SNPs rs4290, rs7214530, rs7213516 or combinations thereof; or, (ii) a SNP in linkage disequilibrium with one or more SNPs listed in (i) wherein the allelic status of the polymorphism in the subject is predictive of the subject's risk for having or developing the ACE-related disorder. ### Claim 2 A method of screening a subject for a prognostic biomarker of an ACE-related disorder, comprising detecting the allelic status of one or more polymorphisms in a nucleic acid sample of the subject, wherein the polymorphism is one or more of: (i) ACE-associated SNPs rs4290, rs7214530, rs7213516 or combinations thereof; or, (ii) a SNP in linkage disequilibrium with one or more SNPs listed in (i) wherein the allelic status of the polymorphism in the subject is predictive of the prognostic outcome of the ACE-related disorder. ### Claim 3 (depends on 1) The method of claim 1, further comprising the step of correlating the allelic status of the polymorphism in the subject with the allelic status of the polymorphism in a reference population to predict the subject's risk for having or developing the ACE-related disorder. ### Claim 4 (depends on 1) The method of claim 1, further comprising the step of correlating the allelic status of the polymorphism in the subject with the allelic status of the polymorphism in a reference population to predict whether the subject has a more or less severe phenotype of the ACE-related disorder. ### Claim 5 (depends on 1) The method of claim 1, further comprising the step of correlating the allelic status of the polymorphism in the subject with the allelic status of the polymorphism in a reference population to predict the prognostic outcome of the disorder in the subject. ### Claim 6 (depends on 1) The method of claim 1, further comprising the step of correlating the allelic status of the polymorphism in the subject with the allelic status of the polymorphism in a reference population to predict the subject's response to treatment. ### Claim 7 (depends on 1) The method of claim 1, wherein the ACE-related disorder comprises one or more of the following: cardiovascular disease, hypertension, myocardial infarction, angioedema, altered kidney function, Alzheimer's, and responsiveness to a therapeutic agent targeting the subject's renin-angiotensin system. ### Claim 8 (depends on 1) The method of claim 1, wherein the therapeutic agent comprises one or more of: ACE inhibitors, beta-blockers, and angiotensin receptor blockers (ARBs). ### Claim 9 (depends on 1) The method of claim 1, wherein the polymorphism comprises an ACE-associated 3 SNP haplotype comprising rs4290, rs7214530, and rs7213516. ### Claim 10 (depends on 1) The method of claim 1, wherein the polymorphism comprises an ACE-associated SNP haplotype comprising rs4290. ### Claim 11 (depends on 1) The method of claim 1, wherein the polymorphism comprises rs4290, rs7213516 or combinations thereof, wherein the presence of the polymorphism in a subject is predictive of an increased risk for a hypertensive ACE-related disorder. ### Claim 12 (depends on 1) The method of claim 1, wherein the presence of a minor allele of the polymorphism is predictive of lower levels of ACE in target tissue and is associated with a decreased ACE mRNA expression. ### Claim 13 A kit comprising an assay for detecting the allelic status of one or more polymorphisms in a nucleic acid sample of a subject, wherein the polymorphism is one or more of: (i) ACE-associated SNPs rs4290, rs7214530, rs7213516 or combinations thereof; or, (ii) a SNP in linkage disequilibrium with one or more SNPs listed in (i). ### Claim 14 (depends on 13) The kit of claim 13, further comprising instructions for correlating the assay results with the subject's risk for having or developing an ACE-related disorder. ### Claim 15 (depends on 13) The kit of claim 13, further comprising instructions for correlating the assay results with the subject's prognostic outcome for the disorder. ### Claim 16 (depends on 13) The kit claim 13, further comprising instructions for correlating the assay results with the probability of success or failure of a particular drug treatment in the subject. ### Claim at position 17 -34. (canceled) ### Claim 35 A method for identifying susceptibility to cardiovascular disease in a subject, comprising: obtaining a sample from a human subject; and determining if the sample contains a risk allele of ACE-associated SNPs rs4290, rs7214530, rs7213516 or combinations thereof. ### Claim 36 (depends on 35) The method of claim 35 wherein the subject is an African-American human male or female. ### Claim 37 (depends on 35) The method of claim 35, wherein the subject is a Caucasian human male or female. ### Claim 38 A method of screening a subject for susceptibility to cardiovascular disease, comprising: obtaining a sample from a human subject; detecting a risk allele of the ACE-associated SNPs rs4290, rs7214530, rs7213516 or combinations thereof; and providing an indication of susceptibility to cardiovascular disease based on the detection of the risk allele. ### Claim 39 A microarray comprising oligonucleotide probes capable of hybridizing under stringent conditions to one or more nucleic acid molecules having a polymorphic variant sequence at the site encoding ACE-associated SNPs rs4290, rs7214530, rs7213516 or combinations thereof. ### Claim 40 A system for identifying a phenotype for an organism or biological sample derived therefrom, the system comprising: a) a set of marker probes or primers configured to detect at least one allelic status associated with the phenotype, wherein the allele comprises ACE-associated SNPs rs4290, rs7214530, rs7213516 or combinations thereof; b) a detector that is configured to detect one or more signal outputs from the set of marker probes or primers, or an amplicon produced from the set of marker probes or primers, thereby identifying the presence or absence of the allele; and, c) system instructions that correlate the presence or absence of the allele with the predicted phenotype, thereby identifying the phenotype for the organism or biological sample derived therefrom. ### Claim 41 (depends on 40) The system of claim 40, wherein the phenotype comprises a diagnosis of or predisposition to cardiovascular disease or hypertension. ### Claim 42 (depends on 40) The method of claim 40, wherein the SNPs to be analyzed are defined by features present of geographic population differentiation SNPs. ### Claim 43 (depends on 42) The method of claim 42, wherein the geographic populations are selected from the group consisting of American, Asian, European, African, and Australian. ### Claim 44 A subset of SNPs comprising at least two of the ACE-associated SNPs rs4290, rs7214530 and rs7213516. ### Claim 45 (depends on 44) The subset of SNPs of claim 44, wherein the subset of SNPs are use in predicting a phenotype of a subject. ### Claim 46 A composition comprising a set of probes that hybridize to at least two of the ACE-associated SNPs rs4290, rs7214530 and rs7213516.