# US 8,785,128 B2 · Genetic diagnosis of hepatic steatosis

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- Number: US 8,785,128 B2
- Document ID: US8785128B2
- Status: Granted
- Kind: B2
- Application number: 13/684,577
- Filed: 2012-11-26
- Published: 2014-06-26
- Granted: 2014-07-22
- Earliest claimed: 2008-09-04
- Assignees: Board of Regents, The University of Texas System
- Applicants: Helen H Hobbs; Jonathan C Cohen
- Inventors: Helen H Hobbs; Jonathan C Cohen
- Web page: https://patentgrep.com/patent/US8785128B2

## CPC

- C12Q 1/6883: for diseases caused by alterations of genetic material
- C12Q 2600/156: Polymorphic or mutational markers
- 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

Disclosed are methods of identifying a genetic variant in a person determined to have or be predisposed having a fatty liver by determining whether the person has PNPLA3-I148M. Also disclosed are methods of identifying a genetic variant in a person by determining whether the person has PNPLA3-I148M; and prescribing to the person a treatment to reduce liver fat or associated inflammation.

## Claims

### Claim 1

A method for determining a genetic marker in a PNPLA3 gene of a human and treating the human for high hepatic fat content, the method comprising the steps:
(a) determining that the genome of the human comprises a genetic marker of PNPLA3-I148M by detecting a G allele at SNP rs738409;
(b) identifying the human as having a high hepatic fat content based on the detection of the G allele at SNP rs738409; and
(c) treating the human identified in (b) as having a high hepatic fat content with an antiobesity drug that is orlistat, sibutramine, exenatide, pramlintide or rimonabant.

### Claim 2 (depends on 1)

The method of claim 1 wherein:
the determining step comprises detecting the marker using a method selected from the group consisting of: mass spectroscopy, oligonucleotide microarray analysis, allele-specific hybridization, allele-specific PCR, and sequencing, and
the method further comprises a step of measuring hepatic triglyceride of the human, wherein the measuring step comprises proton magnetic resonance spectroscopy (1H-MRS).

### Claim 3 (depends on 1)

The method of claim 1 wherein the drug is orlistat.

### Claim 4 (depends on 2)

The method of claim 2 wherein the drug is orlistat.

### Claim 5 (depends on 1)

The method of claim 1 wherein the drug is sibutramine.

### Claim 6 (depends on 2)

The method of claim 2 wherein the drug is sibutramine.

### Claim 7 (depends on 1)

The method of claim 1 wherein the drug is exenatide.

### Claim 8 (depends on 2)

The method of claim 2 wherein the drug is exenatide.

### Claim 9 (depends on 1)

The method of claim 1 wherein the drug is pramlintide.

### Claim 10 (depends on 2)

The method of claim 2 wherein the drug is pramlintide.

### Claim 11 (depends on 1)

The method of claim 1 wherein the drug is rimonabant.

### Claim 12 (depends on 2)

The method of claim 2 wherein the drug is rimonabant.

### Claim 13

A method for determining a genetic marker in a PNPLA3 gene of a human and treating the human for high hepatic fat content, the method comprising the steps:
(a) determining that the genome of the human comprises a genetic marker of PNPLA3-I148M by detecting a G allele at SNP rs738409;
(b) identifying the human as having a high hepatic fat content based on the detection of the G allele at SNP rs738409; and
(c) treating the human identified in (b) as having a high hepatic fat content with an anti-diabetic drug that is a thiazolidinedione, metformin or glimepiride.

### Claim 14 (depends on 13)

The method of claim 13 wherein:
the determining step comprises detecting the marker using a method selected from the group consisting of: mass spectroscopy, oligonucleotide microarray analysis, allele-specific hybridization, allele-specific PCR, and sequencing, and
the method further comprises the step of measuring hepatic triglyceride of the human, wherein the measuring step comprises proton magnetic resonance spectroscopy (1H-MRS).

### Claim 15 (depends on 13)

The method of claim 13 wherein the drug is a thiazolidinedione.

### Claim 16 (depends on 14)

The method of claim 14 wherein the drug is a thiazolidinedione.

### Claim 17 (depends on 13)

The method of claim 13 wherein the drug is metformin.

### Claim 18 (depends on 14)

The method of claim 14 wherein the drug is metformin.

### Claim 19 (depends on 13)

The method of claim 13 wherein the drug is glimepiride.

### Claim 20 (depends on 14)

The method of claim 14 wherein the drug is glimepiride.