# US 9,040,241 B2 · Genetic markers of mental illness

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- Number: US 9,040,241 B2
- Document ID: US9040241B2
- Status: Granted
- Kind: B2
- Application number: 14/066,120
- Filed: 2013-10-29
- Published: 2014-09-25
- Granted: 2015-05-26
- Earliest claimed: 2008-01-17
- Assignees: Suregene, LLC
- Applicants: SureGene, LLC
- Inventors: Mark David Brennan; Timothy Lynn Ramsey
- Web page: https://patentgrep.com/patent/US9040241B2

## CPC

- C12Q 1/6883: for diseases caused by alterations of genetic material
- A61K 31/496: Non-condensed piperazines containing further heterocyclic rings, e.g. rifampin, thiothixene or sparfloxacin
- A61K 31/519: ortho- or peri-condensed with heterocyclic rings
- A61K 31/5415: ortho- or peri-condensed with carbocyclic ring systems, e.g. phenothiazine, chlorpromazine, piroxicam
- A61K 31/551: having two nitrogen atoms, e.g. dilazep
- A61K 31/5513: 1,4-Benzodiazepines, e.g. diazepam {or clozapine}
- A61K 31/554: having at least one nitrogen and one sulfur as ring hetero atoms, e.g. clothiapine, diltiazem
- G16B 20/20: Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
- G16H 70/40: relating to drugs, e.g. their side effects or intended usage
- G16H 70/60: relating to pathologies
- C12Q 2600/106: Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
- C12Q 2600/118: Prognosis of disease development
- C12Q 2600/156: Polymorphic or mutational markers
- C12Q 2600/158: Expression markers
- C12Q 2600/172: Haplotypes
- G16B 20/00: ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- Y02A 90/10: Information and communication technologies [ICT] supporting adaptation to climate change, e.g. for weather forecasting or climate simulation
- 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)
- G16B: BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16H: HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
- Y02A: TECHNOLOGIES FOR ADAPTATION TO CLIMATE CHANGE

## Abstract

This invention relates to genetic markers of mental illness, e.g., schizophrenia (SZ), and methods of use thereof.

## Claims

### Claim 1

A method of treating a human subject having schizophrenia (SZ), the method comprising:
selecting a human subject having SZ;
performing an assay to determine an ankyrin-3 (ANK3) haplotype for the selected subject, wherein the ANK3 haplotype comprises an allele of single nucleotide polymorphism rs1551213;
identifying a selected subject having a T allele at rs1551213 as more likely to have a negative side effect in response to risperidone compared to a subject not having a T allele at rs1551213, or identifying a selected subject not having a T allele at rs1551213 as less likely to have a negative side effect in response to risperidone compared to a subject having a T allele at rs1551213; and
administering a treatment not comprising risperidone to a selected subject identified as having an T allele at rs1551213 or administering a treatment comprising risperidone to a selected subject identified as not having a T allele at rs1551213.

### Claim 2 (depends on 1)

The method of claim 1, wherein a treatment comprising risperidone is administered to a selected subject identified as not having a T allele at rs1551213.

### Claim 3 (depends on 1)

The method of claim 1, wherein a treatment not comprising risperidone is administered to a selected subject having a T allele at rs1551213.

### Claim 4 (depends on 1)

The method of claim 1, wherein the selected subject is determined to have SZ based, in part, on his or her Positive and Negative Syndrome Scale score.

### Claim 5 (depends on 1)

The method of claim 1, wherein the selected subject has:
(a) a parent who has SZ, schizoaffective disorder (SD), or schizotypal personality disorder (SPD);
(b) a sibling who has SZ, SD, or SPD; or
(c) a second degree relative who has SZ, SD, or SPD.

### Claim 6 (depends on 1)

The method of claim 1, further comprising obtaining a sample comprising genomic DNA from the selected subject.

### Claim 7 (depends on 1)

The method of claim 1, further comprising confirming a diagnosis of SZ in the selected subject using psychometric instruments.

### Claim 8 (depends on 1)

The method of claim 1, further comprising selecting or excluding the selected subject for enrollment in a clinical trial based on the selected subject's haplotype.

### Claim 9 (depends on 1)

The method of claim 1, further comprising stratifying a population of selected subjects for analysis of a clinical trial based on the haplotypes in the selected subjects.

### Claim 10 (depends on 1)

The method of claim 1, further comprising stratifying the selected subjects into biologically similar groups based on their haplotypes in order to determine a differential diagnosis.

### Claim 11

A method of treating a human subject having schizophrenia (SZ), the method comprising:
selecting a human subject having SZ;
performing an assay to determine an ankyrin-3 (ANK3) haplotype for the selected subject, wherein the ANK3 haplotype comprises an allele of single nucleotide polymorphism rs1551213;
identifying a selected subject having a T allele at rs1551213 or identifying a selected subject not having a T allele at rs1551213; and
administering a treatment not comprising risperidone to a selected subject identified as having a T allele at rs1551213, or administering a treatment comprising risperidone to a selected subject not having a T allele at rs1551213.

### Claim 12 (depends on 11)

The method of claim 11, wherein a treatment comprising risperidone is administered to a selected subject identified as not having a T allele at rs1551213.

### Claim 13 (depends on 11)

The method of claim 11, wherein a treatment not comprising risperidone is administered to a selected subject identified as having a T allele at rs1551213.

### Claim 14 (depends on 11)

The method of claim 11, wherein the selected subject is determined to have SZ based, in part, on his or her Positive and Negative Syndrome Scale score.

### Claim 15 (depends on 11)

The method of claim 11, wherein the selected subject has:
(a) a parent who has SZ, schizoaffective disorder (SD), or schizotypal personality disorder (SPD);
(b) a sibling who has SZ, SD, or SPD, and an unaffected parent; or
(c) a second degree relative who has SZ, SD, or SPD.

### Claim 16 (depends on 11)

The method of claim 11, further comprising obtaining a sample comprising genomic DNA from the selected subject.

### Claim 17 (depends on 11)

The method of claim 11, further comprising confirming a diagnosis of SZ in the selected subject using psychometric instruments.

### Claim 18 (depends on 11)

The method of claim 11, further comprising selecting or excluding the selected subject for enrollment in a clinical trial based on the selected subject's haplotype.

### Claim 19 (depends on 11)

The method of claim 11, further comprising stratifying a population of selected subjects for analysis of a clinical trial based on the haplotypes in the selected subjects.

### Claim 20 (depends on 11)

The method of claim 11, further comprising stratifying the selected subjects into biologically similar groups based on their haplotypes in order to determine a differential diagnosis.

### Claim 21

A method of treating a human subject having schizophrenia (SZ), the method comprising:
selecting a human subject having-SZ;
performing an assay to determine an ankyrin-3 (ANK3) haplotype for the selected human subject, wherein the ANK3 haplotype comprises an allele of single nucleotide polymorphism rs1551213;
identifying a selected subject having a T allele at rs1551213 or identifying a selected subject not having a T allele at rs1551213;
selecting a treatment not comprising risperidone for a selected subject identified as having a T allele at rs1551213, or selecting a treatment comprising risperidone for a selected subject identified as not having a T allele at rs17785419; and
administering a treatment not comprising risperidone to a selected subject identified as having a T allele at rs1551213, or administering a treatment comprising risperidone to a selected subject identified as not having a T allele at rs1551213.

### Claim 22 (depends on 21)

The method of claim 21, wherein a treatment comprising risperidone is administered to a selected subject identified as not having a T allele at rs1551213.

### Claim 23 (depends on 21)

The method of claim 21, wherein a treatment not comprising risperidone is administered to a selected subject identified as having a T allele at rs1551213.

### Claim 24 (depends on 21)

The method of claim 21, wherein the selected subject is determined to have SZ based, in part, on his or her Positive and Negative Syndrome Scale score.

### Claim 25 (depends on 21)

The method of claim 21, wherein the selected subject has:
(a) a parent who has SZ, schizoaffective disorder (SD), or schizotypal personality disorder (SPD);
(b) a sibling who has SZ, SD, or SPD, and an unaffected parent; or
(c) a second degree relative who has SZ, SD, or SPD.

### Claim 26 (depends on 21)

The method of claim 21, further comprising obtaining a sample comprising genomic DNA from the selected subject.

### Claim 27 (depends on 21)

The method of claim 21, further comprising confirming a diagnosis of SZ in the selected subject using psychometric instruments.

### Claim 28 (depends on 21)

The method of claim 21, further comprising selecting or excluding the selected subject for enrollment in a clinical trial based on the selected subject's haplotype.

### Claim 29 (depends on 21)

The method of claim 21, further comprising stratifying a population of selected subjects for analysis of a clinical trial based on the haplotypes in the selected subjects.

### Claim 30 (depends on 21)

The method of claim 21, further comprising stratifying the selected subjects into biologically similar groups based on their haplotypes in order to determine a differential diagnosis.