# US 12,110,555 B2 · Diagnosis and treatment of inflammatory bowel disease

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- Number: US 12,110,555 B2
- Document ID: US12110555B2
- Status: Granted
- Kind: B2
- Application number: 17/588,089
- Filed: 2022-01-28
- Published: 2022-09-15
- Granted: 2024-10-08
- Earliest claimed: 2004-12-08
- Assignees: Cedars-Sinai Medical Center
- Applicants: Cedars-Sinai Medical Center
- Inventors: Stephan R. Targan; Marla C. Dubinsky; Carol J. Landers; Ling Mei; Jerome I. Rotter; Kent D. Taylor
- Web page: https://patentgrep.com/patent/US12110555B2

## CPC

- C12Q 1/6883: for diseases caused by alterations of genetic material
- G01N 33/56911: {Bacteria}
- G01N 33/6854: {Immunoglobulins}
- G01N 33/6893: {related to diseases not provided for elsewhere}
- C12Q 2600/156: Polymorphic or mutational markers
- G01N 2800/065: Bowel diseases, e.g. Crohn, ulcerative colitis, IBS
- G01N 2800/50: Determining the risk of developing a disease
- G01N 2800/52: Predicting or monitoring the response to treatment, e.g. for selection of therapy based on assay results in personalised medicine; Prognosis
- 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
- G01N: INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES (measuring or testing apparatus or processes other than immunoassay, involving enzymes or microorganisms C12M, C12Q)

## Abstract

This invention provides methods of diagnosis, predicting and diagnosing susceptibility to, predicting disease progression and treatment of inflammatory bowel disease (IBD), including Crohn's disease and/or subtypes of Crohn's disease (CD) and/or Ulcerative Colitis (UC). In one embodiment, a method of the invention is practiced by determining the presence or absence of the genetic variants NOD2, TLR8, TLR2, CARD8, CARD15 and/or JAK3 to diagnose, predict and diagnose susceptibility and predict disease progression in an individual. In another embodiment, a method of the invention is practiced by determining the presence or absence of anti-Cbir1, anti-OmpC, ASCA, anti-I2 and/or pANCA in an individual. In another embodiment, the invention further associates the presence or absence of the risk variants with the expression of anti-Cbir1, anti-OmpC, ASCA, anti-I2 and/or pANCA for the diagnosis, prediction of susceptibility, prediction of disease progression and/or treatment of IBD, including CD and/or UC.

## Claims

### Claim 1

A process for predicting IBD susceptibility in a subject, comprising:
providing a sample from the subject;
assaying the sample to detect risk and/or protective variants in genes selected from the group consisting of: CARD 8, TLR8, TLR2 and JAK3;
assaying the sample to detect risk serological factors selected from the group consisting of: anti-CBirl, pANCA, anti-OmpC, ASCA and anti-I2; and
determining that the subject has increased susceptibility to IBD if one or more risk variants and/or risk serological factors are present and the protective variants are absent or determining that the subject has a decreased susceptibility to IBD if one or more protective variants are present and the risk variants and/or risk serological factors are absent,
wherein IBD comprises Crohn's disease (CD) and ulcerative colitis (UC).

### Claim 2

A process for selecting a therapy for a subject with IBD comprising:
providing a sample from the subject;
assaying the sample to detect risk and/or protective variants selected from the group consisting of: CARD 8, TLR8, TLR2 and JAK3;
assaying the sample to detect risk serological factors selected from the group consisting of: anti-CBirl, pANCA, anti-OmpC, ASCA and anti-12; and
determining that the subject has IBD if one or more risk variants and/or risk serological factors are present and the protective variants are absent or determining that the subject does not have IBD if one or more protective variants are present and the risk variants and/or risk serological factors are absent; and
selecting a therapy for the subject with IBD;
wherein IBD comprises Crohn's Disease (CD) and ulcerative colitis (UC).