IP Library › Granted Patent US 11,111,539
Granted Patent B2
US 11,111,539 · App. 15/899,811 · Granted Sep 7, 2021

Identification of pediatric onset inflammatory bowel disease loci and methods for use thereof for the diagnosis and treatment of the same

Inventors: Hakon Hakonarson (Malvern, PA); Jonathan Bradfield (Philadelphia, PA); Marcin Imielinski (Cambridge, MA); Struan F. A. Grant (Philadelphia, PA)
Assignee: THE CHILDREN'S HOSPITAL OF PHILADELPHIA
C12Q1/6883C12Q2600/136C12Q2600/156C12Q2600/158C12Q2600/172
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Quick Facts
Patent No.
US 11,111,539
App. No.
15/899,811
Granted
Sep 7, 2021
Kind
B2
Abstract

Compositions and methods for the detection and treatment of inflammatory bowel disease are provided.

Claims (15)

1. A method for treating inflammatory bowel disease (IBD) comprising detecting the presence of at least one IBD-associated single nucleotide polymorphism (SNP) in a target polynucleotide comprising:

(a) isolating nucleic acids from a biological sample from a subject;

(b) detecting in the nucleic acids the presence of at least one IBD-associated-SNP selected from a Tat rs2315008 in the TNFRSF6B gene, an A at rs4809330 on chromosome 20 in the TNFRSF6B gene, and an A at rs2836878 on chromosome 21; and diagnosing the subject as having IBD or an increased risk of IBD based on the presence of the detected IBD-associated-SNP; and

(c) administering to the subject a therapeutically effective amount of a therapy useful for treating IBD.

2. The method of claim 1 , further comprising, detecting in the sample the presence of an IBD-associated SNP of an A at rs1968752.

3. The method of claim 1 , wherein the target nucleic acid is amplified prior to detection.

4. The method of claim 1 , wherein the target nucleic acid is DNA.

5. The method of claim 1 , wherein nucleic acids comprising said polymorphism are obtained from an isolated cell of a human subject.

6. The method of claim 2 , wherein the target nucleic acid is amplified prior to detection.

7. The method of claim 2 , wherein detecting the presence of said single nucleotide polymorphism further comprises the step of analyzing a polynucleotide sample to determine the presence of said single nucleotide polymorphism by performing a process selected from the group consisting of detection of specific hybridization, measurement of allele size, restriction fragment length polymorphism analysis, allele-specific hybridization analysis, single base primer extension reaction, and sequencing of an amplified polynucleotide.

8. The method of claim 2 , wherein the target nucleic acid is DNA.

9. The method of claim 2 , wherein nucleic acids comprising said polymorphism are obtained from an isolated cell of a human subject.

10. The method of claim 1 further comprising, detecting in the sample the presence of at least one IBD-associated SNP selected from a G at rs4625, a T at rs11190140, a T at rs10488959, a C at rs1108458, a G at rs7720838, a T at rs16991082, an A at rs11671391, an A at rs762421, a C at rs17809115, a T at rs2137424, an A at rs2056153, an A at rs2412973, a C at rs3742704, a C at rs1159502, a C at rs11585347, a G at rs17370612, a C at rs511973, a G at rs2548993, a G at rs4811050, a C at rs13219796, a T at rs4529739, an A at rs17170842, a C at rs13232099, a C at rs11585347, an A at rs6722598, an A at rs10759736, an A at rs474816, an A at rs1597317, a T at rs7676830, a G at rs13098182, a C at rs17475446, an A at rs12671457, a T at rs10044354, an A at rs2476601, a T at rs11465804, a T at rs2274910, a G at rs9286879, a G at rs12122721, an A at rs3024505, a G at rs13003464, a C at rs780094, a C at rs6752254, an A at rs2241880, a G at rs7611991, an A at rs3197999, a C at rs4613763, an A at rs7724915, a T at rs2188962, a G at rs7714584, an A at rs10045431, a G at rs2395185, an A at rs660895, a T at rs6908425, an A at rs12529198, an A at rs4959832, an A at rs6938089, a T at rs2301436, a G at rs1456893, a C at rs6478108, a G at rs7130588, a T at rs11174631, a G at rs3764147, a C at rs1667394, a C at rs991804, an A at rs744166, a G at rs1893217, an A at rs7228236, a T at rs16960173, an A at rs3749946, a T at rs2000662, an A at rs2456449, an A at rs4833103, a G at rs9271568, a G at rs1551398, a T at rs2844482, a T at rs2844480, and an A at rs10492494.

11. The method of claim 1 further comprising, detecting in the sample the presence of at least one IBD-associated SNP selected from rs12261843, rs4077515, rs10758669, rs11713694, rs8049439, rs1052176, rs2872507, rs13294, rs917997, rs12360212, rs4676410, rs4676406, and rs16950687, wherein each SNP has an OR value and wherein an OR greater than 1 indicates that the minor allele is the risk allele.

12. The method of claim 1 , wherein detecting the presence of said single nucleotide polymorphism further comprises the step of analyzing a polynucleotide sample to determine the presence of said single nucleotide polymorphism by performing a process selected from the group consisting of detection of specific hybridization, measurement of allele size, restriction fragment length polymorphism analysis, allele-specific hybridization analysis, single base primer extension reaction, and sequencing of an amplified polynucleotide.

Assignments (1)
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded Aug 5, 2021
From: HAKONARSON, HAKON; BRADFIELD, JONATHAN; IMIELINSKI, MARCIN; GRANT, STRUAN
To: THE CHILDREN'S HOSPITAL OF PHILADELPHIA
Reel/Frame 057088/0403 →
Continuity (4)
Division 12735843
Provisional Application 61029841 · Feb 19, 2008
Provisional Application 61059486 · Jun 6, 2008
Related Publication 20190218612A1 · Jul 18, 2019
Cited By (2)
US 12,215,147 US 12,391,752