IP Library Granted Patent US 11,549,146
Granted Patent B2
US 11,549,146 · App. 16/303,033 · Granted Jan 10, 2023

Diagnosis of inflammatory bowel disease based on genes

Inventors: Dermot P. Mcgovern (Los Angeles, CA); Dalin Li (Walnut, CA)
Assignee: CEDARS-SINAI MEDICAL CENTER
C12Q1/6883C12Q1/6816G16B20/20C12Q2600/118C12Q2600/156C12Q2600/172
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Quick Facts
Patent No.
US 11,549,146
App. No.
16/303,033
Granted
Jan 10, 2023
Kind
B2
Abstract

The present invention describes a method of prognosing high or low probability of developing an inflammatory bowel disease (IBD) in a subject and a method of diagnosing an inflammatory bowel disease (IBD) in a subject. The invention further provides for a method of identifying genes/genetic loci associated with a disease condition, such as IBD, CD and/or UC.

Claims (21)

1. A method of treating Inflammatory Bowel Disease (IBD) in a subject, the method comprising administering an IBD therapy to the subject, wherein the subject is determined to comprise at least one single nucleotide polymorphism (SNP), the at least one SNP comprising a SNP at rs918490 comprising a “G” allele at nucleoposition 501 within SEQ ID NO: 27.

2. The method of claim 1 , wherein the at least one SNP further comprises a SNP at rs911186 comprising an “A” allele at nucleoposition 501 within SEQ ID NO: 147, a SNP at rs138546574 comprising an “A” allele at nucleoposition 501 within SEQ ID NO: 174, a SNP at rs10745330 comprising an “A” allele at nucleoposition 501 within SEQ ID NO: 55, a SNP at rs11600757 comprising an “A” allele at nucleoposition 301 within SEQ ID NO: 42, a SNP at rs137956 comprising a “G” allele at nucleoposition 604 within SEQ ID NO: 33, a SNP at rs10010325 comprising a “C” allele at nucleoposition 501 within SEQ ID NO: 328, a SNP at rs7120822 comprising an “A” allele at nucleoposition 501 within SEQ ID NO: 291, a SNP at rs11221332 comprising an “A” allele at nucleoposition 501 within SEQ ID NO: 284, a SNP at rs6072343 comprising an “A” allele at nucleoposition 401 within SEQ ID NO: 29, a SNP at rs2282978 comprising an “A” allele at nucleoposition 501 within SEQ ID NO: 39, a SNP at rs2690110 comprising a “G” allele at nucleoposition 501 within SEQ ID NO: 62, a SNP at rs2808 comprising an “A” allele at nucleoposition 501 within SEQ ID NO: 6, a SNP at rs3785794 comprising a “G” allele at nucleoposition 501 within SEQ ID NO: 7, and/or a SNP at rs9609429 comprising an “A” allele at nucleoposition 1000 within SEQ ID NO: 327.

3. The method of claim 1 , wherein the subject is determined to comprise at least two SNPs, the at least two SNPs comprising the SNP at rs918490 comprising a “G” allele at nucleoposition 501 within SEQ ID NO: 27 and a SNP at rs911186 comprising an “A” allele at nucleoposition 501 within SEQ ID NO: 147.

4. The method of claim 1 , wherein the subject is determined to comprise at least three SNPs, the at least three SNPs comprising the SNP at rs918490 comprising a “G” allele at nucleoposition 501 within SEQ ID NO: 27, a SNP at rs911186 comprising an “A” allele at nucleoposition 501 within SEQ ID NO: 147, and a SNP at rs138546574 comprising an “A” allele at nucleoposition 501 within SEQ ID NO: 174.

5. The method of claim 1 , wherein the subject is determined to comprise the at least one SNP in a determination method comprising:

a. contacting a sample from the subject with an oligonucleotide probe capable of hybridizing to the “G” allele at nucleoposition 501 within SEQ ID NO: 27; and

b. detecting an allele-specific hybridization complex between the oligonucleotide probe and the “G” allele at nucleoposition 501 within SEQ ID NO: 27.

6. The method of claim 1 , wherein the IBD therapy is an anti-tumor necrosis factor (TNF)α therapy.

7. The method of claim 1 , wherein the IBD is Crohn's disease (CD) or ulcerative colitis (UC).

8. A method of treating Inflammatory Bowel Disease (IBD) in a subject, the method comprising:

a) genotyping a sample obtained from the subject for a presence of a genotype comprising a single nucleotide polymorphism (SNP) at rs918490 comprising a “G” allele at nucleoposition 501 within SEQ ID NO: 27;

b) detecting the presence of the genotype; and

c) treating the IBD in the subject by administering a therapeutically effective amount of a therapeutic agent for the IBD, provided that the presence of genotype is detected in step b).

9. The method of claim 8 , wherein steps a) and b) are performed by:

(i) contacting the sample with an oligonucleotide probe specific to the “G” allele at nucleoposition 501 within SEQ ID NO: 27;

(ii) generating an allele-specific hybridization complex between the oligonucleotide probe and the “G” allele at nucleoposition 501 within SEQ ID NO: 27; and

(iii) upon detecting the allele-specific hybridization complex, detecting the presence of the genotype.

10. The method of claim 8 , wherein step a) is performed by a genotyping assay, polymerase chain reaction (PCR), reverse transcription PCR, quantitative PCR, a microarray, DNA sequencing, and/or RNA sequencing.

11. The method of claim 8 , wherein the genotype further comprises a SNP at rs911186 comprising an “A” allele at nucleoposition 501 within SEQ ID NO: 147, a SNP at rs138546574 comprising an “A” allele at nucleoposition 501 within SEQ ID NO: 174, a SNP at rs10745330 comprising an “A” allele at nucleoposition 501 within SEQ ID NO: 55, a SNP at rs11600757 comprising an “A” allele at nucleoposition 301 within SEQ ID NO: 42, a SNP at rs137956 comprising a “G” allele at nucleoposition 604 within SEQ ID NO: 33, a SNP at rs10010325 comprising a “C” allele at nucleoposition 501 within SEQ ID NO: 328, a SNP at rs7120822 comprising an “A” allele at nucleoposition 501 within SEQ ID NO: 291, a SNP at rs11221332 comprising an “A” allele at nucleoposition 501 within SEQ ID NO: 284, a SNP at rs6072343 comprising an “A” allele at nucleoposition 401 within SEQ ID NO: 29, a SNP at rs2282978 comprising an “A” allele at nucleoposition 501 within SEQ ID NO: 39, a SNP at rs2690110 comprising a “G” allele at nucleoposition 501 within SEQ ID NO: 62, a SNP at rs2808 comprising an “A” allele at nucleoposition 501 within SEQ ID NO: 6, a SNP at rs3785794 comprising a “G” allele at nucleoposition 501 within SEQ ID NO: 7, and/or a SNP at rs9609429 comprising an “A” allele at nucleoposition 1000 within SEQ ID NO: 327.

12. The method of claim 8 , wherein the genotype further comprises a SNP at rs911186 comprising an “A” allele at nucleoposition 501 within SEQ ID NO: 147.

13. The method of claim 8 , wherein the IBD is Crohn's disease (CD) or ulcerative colitis (UC).

Assignments (2)
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded Jul 21, 2020
From: MCGOVERN, DERMOT P.; LI, DALIN
To: CEDARS-SINAI MEDICAL CENTER
Reel/Frame 053271/0705 →
CONFIRMATORY LICENSE Recorded Dec 6, 2018
From: CEDARS-SINAI MEDICAL CENTER
To: NATIONAL INSTITUTES OF HEALTH (NIH), U.S. DEPT. OF HEALTH AND HUMAN SERVICES (DHHS), U.S. GOVERNMENT
Reel/Frame 047733/0577 →
Continuity (2)
Provisional Application 62339357 · May 20, 2016
Related Publication 20190194754A1 · Jun 27, 2019