# US 7,482,117 B2 · Genetic polymorphisms associated with myocardial infarction, methods of detection and uses thereof

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- Number: US 7,482,117 B2
- Document ID: US7482117B2
- Status: Granted
- Kind: B2
- Application number: 10/741,600
- Filed: 2003-12-22
- Published: 2005-02-03
- Granted: 2009-01-27
- Earliest claimed: 2002-12-20
- Assignees: Celera Corporation
- Inventors: Michele Cargill; James J. Devlin; Olga Iakoubova
- Web page: https://patentgrep.com/patent/US7482117B2

## CPC

- C12Q 1/6883: for diseases caused by alterations of genetic material
- A61P 9/10: for treating ischaemic or atherosclerotic diseases, e.g. antianginal drugs, coronary vasodilators, drugs for myocardial infarction, retinopathy, cerebrovascula insufficiency, renal arteriosclerosis
- C12Q 2600/156: Polymorphic or mutational markers
- 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
- A61P: SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS

## Abstract

The present invention is based on the discovery of genetic polymorphisms that are associated with myocardial infarction. In particular, the present invention relates to 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 of identifying a human having an increased risk for developing recurrent myocardial infarction, comprising testing a nucleic acid sample from said human for the presence or absence of a single nucleotide polymorphism (SNP) at position 101 of SEQ ID NO: 21398 or its complement thereof, wherein the presence of at least one G allele at the SNP identifies said human as having an increased risk for recurrent myocardial infarction as compared to a human with two A alleles at the SNP.

### Claim 2 (depends on 1)

The method of claim 1 in which SEQ ID NO: 21398 is a segment of the genomic sequence of LRP2 gene comprising SEQ ID NO: 17581.

### Claim 3 (depends on 2)

The method of claim 2 in which the SNP is located at position 208593 of SEQ ID NO: 17581.

### Claim 4 (depends on 1)

The method of claim 1 in which said nucleic acid sample is extracted from a biological sample.

### Claim 5 (depends on 4)

The method of claim 4 in which said biological sample is blood, saliva, or buccal cells.

### Claim 6 (depends on 1)

The method of claim 1 in which said nucleic acid sample is amplified before the testing is carried out.

### Claim 7 (depends on 1)

The method of claim 1 in which the testing is carried out by using detection reagents comprising the nucleotide sequences of SEQ ID NO: 73293, SEQ ID NO: 73294, and SEQ ID NO: 73295.

### Claim 8 (depends on 1)

The method of claim 1 in which the testing is carried out by a process selected from the group consisting of: allele-specific probe hybridization, allele-specific primer extension, allele-specific amplification, sequencing, 5′ nuclease digestion, molecular beacon assay, oligonucleotide ligation assay, size analysis, and single-stranded conformation polymorphism.

### Claim 9

A method of identifying a human having a decreased risk for developing recurrent myocardial infarction, comprising testing a nucleic acid sample from said human for the presence or absence of a single nucleotide polymorphism (SNP) at position 101 of SEQ ID NO: 21398 or its complement thereof, wherein the presence of two A alleles at the SNP identifies said human as having a decreased risk for recurrent myocardial infarction as compared to a human with at least one G allele at the SNP.

### Claim 10 (depends on 9)

The method of claim 9 in which SEQ ID NO: 21398 is a segment of the genomic sequence of LRP2 gene comprising SEQ ID NO: 17581.

### Claim 11 (depends on 10)

The method of claim 10 in which the SNP is located at position 208593 of SEQ ID NO: 17581.

### Claim 12 (depends on 9)

The method of claim 9 in which said nucleic acid sample is extracted from a biological sample.

### Claim 13 (depends on 12)

The method of claim 12 in which said biological sample is blood, saliva, or buccal cells.

### Claim 14 (depends on 9)

The method of claim 9 in which said nucleic acid sample is amplified before the testing is carried out.

### Claim 15 (depends on 9)

The method of claim 9 in which the testing is carried out by using detection reagents comprising the nucleotide sequences of SEQ ID NO: 73293, SEQ ID NO: 73294, and SEQ ID NO: 73295.

### Claim 16 (depends on 9)

The method of claim 9 in which the testing is carried out by a process selected from the group consisting of: allele-specific probe hybridization, allele- specific primer extension, allele-specific amplification, sequencing, 5′ nuclease digestion, molecular beacon assay, oligonucleotide ligation assay, size analysis, and single-stranded conformation polymorphism.

### Claim 17

A method of determining a human's risk for developing recurrent myocardial infarction, comprising testing a nucleic acid sample from said human for the presence or absence of a single nucleotide polymorphism (SNP) at position 101 of SEQ ID NO: 21398 or its complement thereof, wherein the presence of at least one G allele at the SNP identifies said human as having an increased risk for recurrent myocardial infarction as compared to a human with two A alleles at the SNP, or the presence of two A alleles at the SNP identifies said human as having a decreased risk for recurrent myocardial infarction as compared to a human with at least one G allele at the SNP.

### Claim 18 (depends on 17)

The method of claim 17 in which SEQ ID NO: 21398 is a segment of the genomic sequence of LRP2 gene comprising SEQ ID NO: 17581.

### Claim 19 (depends on 18)

The method of claim 18 in which the SNP is located at position 208593 of SEQ ID NO: 17581.

### Claim 20 (depends on 17)

The method of claim 17 in which said nucleic acid sample is extracted from a biological sample.

### Claim 21 (depends on 20)

The method of claim 20 in which said biological sample is blood, saliva, or buccal cells.

### Claim 22 (depends on 17)

The method of claim 17 in which said nucleic acid sample is amplified before the testing is carried out.

### Claim 23 (depends on 17)

The method of claim 17 in which the testing is carried out by using detection reagents comprising the nucleotide sequences of SEQ ID NO: 73293, SEQ ID NO: 73294, and SEQ ID NO: 73295.

### Claim 24 (depends on 17)

The method of claim 17 in which the testing is carried out by a process selected from the group consisting of: allele-specific probe hybridization, allele-specific primer extension, allele-specific amplification, sequencing, 5′ nuclease digestion, molecular beacon assay, oligonucleotide ligation assay, size analysis, and single-stranded conformation polymorphism.