# US 7,608,395 B2 · Systemic lupus erythematosus diagnostic assay

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- Number: US 7,608,395 B2
- Document ID: US7608395B2
- Status: Granted
- Kind: B2
- Application number: 11/228,586
- Filed: 2005-09-15
- Published: 2007-03-15
- Granted: 2009-10-27
- Earliest claimed: 2005-09-15
- Assignees: Baylor Research Institute
- Inventors: Maria Virginia Pascual; Jacques F. Banchereau; Lynda B. Bennett
- Web page: https://patentgrep.com/patent/US7608395B2

## CPC

- C12Q 1/6883: for diseases caused by alterations of genetic material
- C12Q 2600/158: Expression 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

## Abstract

The present invention provides compositions and methods for aiding in the diagnosis, monitoring and prognosis of SLE in a subject and for identifying potential therapeutic agents to treat and/or ameliorate the symptoms associated with SLE. Accordingly, embodiments of the invention are directed to methods of identifying the gene expression profile of a suitable sample by screening for the presence of a differentially expressed SLE-associated gene isolated from a sample containing or suspected of containing a cell that can differentially express an SLE-associated gene.

## Claims

### Claim 1

A method of diagnosing pediatric systemic U pus erythematosus in a pediatric individual comprising assaying a blood sample from the pediatric individual for an increase in the mRNA level of each of the genes GTPBP2, PCTAIRE2BP, DNAPTP6, GPR84, B4GALT5, FRAT2 and PAFAH1B, wherein the increase in the mRNA level of each of the genes indicates that the pediatric individual has systemic lupus erythematosus (SLE) and wherein the mRNA level is increased relative to the mRNA level in a normal control.

### Claim 2 (depends on 1)

The method of claim 1, wherein the sample comprises cells obtained from the blood.

### Claim 3 (depends on 1)

The method of claim 1, wherein the increase is at least two fold relative to a normal pediatric control.

### Claim 4 (depends on 1)

The method of claim 1, wherein the normal control comprise normal pediatric healthy individuals.

### Claim 5

A method for diagnosing systemic lupus erythematosus (SLE) in a pediatric human individual comprising the steps of:
obtaining a peripheral blood mononuclear cell (PBMC) sample from the pediatric human individual; and
assaying the sample for an increase in the mRNA level of GTPBP2, PCTAIRE2BP, DNAPTP6, GPR84, B4GALT5, FRAT2 and PAFAH1B relative to a PBMC normal control, wherein the increase in the mRNA level of GTPBP2, PCTAIRE2BP, DNAPTP6, GPR84, B4GALT5, FRAT2 and PAFAH1B indicates that the pediatric human individual has systemic lupus erythematosus.

### Claim 6 (depends on 5)

The method of claim 5, wherein the increase in the mRNA level of GTPBP2, PCTAIRE2BP, DNAPTP6, GPR84, B4GALT5, FRAT2 and PAFAH1B is at least two fold relative to the mRNA level in a PBMC normal pediatric control.

### Claim 7 (depends on 5)

The method of claim 5, wherein the PBMC normal control comprise normal pediatric healthy individuals.

### Claim 8

A method of identifying a pediatric human individual at risk for systemic lupus erythematosus comprising the steps of:
obtaining a peripheral blood mononuclear cell (PBMC) sample from the pediatric human individual; and
assaying the sample for an increase in the mRNA level of GTPBP2, PCTAIRE2BP, DNAPTP6, GPR84, B4GALT5, FRAT2 and PAFAH1B relative to a PBMC normal control, wherein said increase in the mRNA level of GTPBP2, PCTAIRE2BP, DNAPTP6, GPR84, B4GALT5, FRAT2 and PAFAH1B indicates that the pediatric individual is at risk for systemic lupus erythematosus.

### Claim 9 (depends on 8)

The method of claim 8, wherein the increase in the mRNA level of GTPBP2, PCTAIRE2BP, DNAPTP6, GPR84, B4GALT5, FRAT2 and PAFAH1B is at least two fold relative to the mRNA level in a PBMC normal control.

### Claim 10 (depends on 8)

The method of claim 8, wherein the peripheral blood mononuclear cell normal control comprise mRNA level of normal pediatric healthy individuals.

### Claim 11

A method for diagnosing systemic lupus erythematosus (SLE) in a pediatric human individual comprising the steps of:
obtaining mRNA from a peripheral blood mononuclear cell (PBMC) sample from the pediatric human individual;
hybridizing the mRNA from the sample with a microarray; and
detecting if there is an increase in the mRNA level, relative to a normal control, of each of the genes of GTPBP2, PCTAIRE2BP, DNAPTP6, GPR84, B4GALT5, FRAT2 and PAFAH1B, wherein an increase in the mRNA level of each of the genes signifies the presence of SLE.

### Claim 12 (depends on 11)

The method of claim 11, wherein the increase is at least two fold relative to the normal control.

### Claim 13 (depends on 11)

The method of claim 11, wherein the normal control comprise mRNA level of normal pediatric healthy individuals.

### Claim 14 (depends on 11)

The method of claim 11, further comprising obtaining the peripheral blood mononuclear cell sample from the pediatric human individual prior to administering a therapeutic intervention.

### Claim 15 (depends on 14)

The method of claim 14, wherein the therapeutic intervention comprise a candidate therapeutic agent selected from interferon alpha inhibitors, corticosteroids, nonsteroidal immune suppressants, antimalarials, and nonsteroidal anti-inflammatory drugs.