# US 12,077,825 B2 · Genetic polymorphisms associated with stroke, methods of detection and uses thereof

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- Number: US 12,077,825 B2
- Document ID: US12077825B2
- Status: Granted
- Kind: B2
- Application number: 17/849,982
- Filed: 2022-06-27
- Published: 2023-04-13
- Granted: 2024-09-03
- Earliest claimed: 2008-02-20
- Assignees: Celera Corporation
- Applicants: Celera Corporation
- Inventors: May Luke; James J. Devlin
- Web page: https://patentgrep.com/patent/US12077825B2

## CPC

- C12Q 1/6883: for diseases caused by alterations of genetic material
- A61K 31/22: of acyclic acids, e.g. pravastatin
- A61K 31/35: having six-membered rings with one oxygen as the only ring hetero atom
- A61K 31/40: having five-membered rings with one nitrogen as the only ring hetero atom, e.g. sulpiride, succinimide, tolmetin, buflomedil
- A61K 31/404: Indoles, e.g. pindolol
- A61K 31/435: having six-membered rings with one nitrogen as the only ring hetero atom
- A61P 9/00: Drugs for disorders of the cardiovascular system
- A61P 9/10: for treating ischaemic or atherosclerotic diseases, e.g. antianginal drugs, coronary vasodilators, drugs for myocardial infarction, retinopathy, cerebrovascula insufficiency, renal arteriosclerosis
- A61P 25/00: Drugs for disorders of the nervous system
- A61P 43/00: Drugs for specific purposes, not provided for in groups A61P1/00-A61P41/00
- C12Q 2600/118: Prognosis of disease development
- C12Q 2600/156: Polymorphic or mutational markers
- C12Q 2600/172: Haplotypes
- Y02E 60/10: Energy storage using batteries
- 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
- A61K: PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES (devices or methods specially adapted for bringing pharmaceutical products into particular physical or administering forms A61J3/00; chemical aspects of, or use of materials for deodorisation of air, for disinfection or sterilisation, or for bandages, dressings, absorbent pads or surgical articles A61L; soap compositions C11D)
- A61P: SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- Y02E: REDUCTION OF GREENHOUSE GAS [GHG] EMISSIONS, RELATED TO ENERGY GENERATION, TRANSMISSION OR DISTRIBUTION

## Abstract

The present invention provides compositions and methods based on genetic polymorphisms that are associated with vascular diseases such as stroke. In particular, the present invention relates to genetic polymorphisms that have utility for such uses as predicting disease risk or predicting an individual's response to a treatment such as statins, including groups of polymorphisms that may be used as a signature marker set for such uses, as well as nucleic acid molecules containing the polymorphisms, variant proteins encoded by such nucleic acid molecules, reagents for detecting the polymorphic nucleic acid molecules and proteins, and methods of using the nucleic acid and proteins as well as methods of using reagents for their detection.

## Claims

### Claim 1

A method for treating stroke in a human, the method comprising testing nucleic acid from said human for an MYH15 polymorphism rs3900940 comprising C at position 101 of SEQ ID NO:1213 or G at its complement, detecting a homozygous genotype of said C or said G to thereby identify said human as having an increased risk for stroke relative to not having said homozygous genotype, and administering a statin to treat stroke to said human.

### Claim 2 (depends on 1)

The method of claim 1, wherein said method comprises preparing a sample from said human that is enriched for a fragment of said nucleic acid that includes said position 101 of SEQ ID NO:1213 or its complement by amplifying said fragment by polymerase chain reaction (PCR).

### Claim 3 (depends on 1)

The method of claim 1, wherein said testing comprises amplifying by polymerase chain reaction (PCR) a fragment of said nucleic acid that includes said polymorphism rs3900940 to thereby create an amplicon containing said polymorphism rs3900940.

### Claim 4 (depends on 3)

The method of claim 3, wherein said testing comprises contacting said amplicon with an oligonucleotide that specifically hybridizes to said C or said G.

### Claim 5 (depends on 1)

The method of claim 1, wherein said testing comprises sequencing said nucleic acid.

### Claim 6 (depends on 1)

The method of claim 1, wherein said testing comprises contacting said nucleic acid with an oligonucleotide that specifically hybridizes to said C or said G.

### Claim 7 (depends on 6)

The method of claim 6, wherein the nucleotide sequence of said oligonucleotide consists of a segment within SEQ ID NO:1213, wherein the segment comprises at least 12 contiguous nucleotides of SEQ ID NO:1213 or its complement that includes said position 101.

### Claim 8 (depends on 6)

The method of claim 6, wherein said oligonucleotide is detectably labeled with a fluorescent dye.

### Claim 9 (depends on 6)

The method of claim 6, wherein said oligonucleotide is an allele-specific probe.

### Claim 10 (depends on 6)

The method of claim 6, wherein said oligonucleotide is an allele-specific primer.

### Claim 11 (depends on 10)

The method of claim 10, wherein said allele-specific primer comprises the nucleotide sequence of SEQ ID NO:1873.