Diagnosis and treatment of genetic alterations associated with eosinophilic esophagitis

Patent metadata

Field	Value
Publication number	US-10704098-B2
Application number	US-201515522470-A
Country	US
Kind code	B2
Filing date	Oct 29, 2015
Priority date	Oct 29, 2014
Publication date	Jul 7, 2020
Grant date	Jul 7, 2020

Abstract

Compositions and methods for the treatment and diagnosis of eosinophilic esophagitis disclosed.

First claim

What is claimed is:

1. A method for treating eosinophilic esophagitis (EoE) in a human subject in need thereof, the method comprising:
(a) obtaining a biological sample from the subject;
(b) detecting in the sample the presence of at least one EoE associated single nucleotide polymorphisms (SNP) in a target nucleic acid in said sample, wherein said SNP is present in a gene sequence from ANKDR27, said SNPs being selected from a C allele at rs3815700 in ANKRD27, and a G allele at rs10410895 in ANKRD27 and; and
(c) administering to the subject an agent that ameliorates EoE symptoms.

2. The method of claim 1 , wherein detecting the presence of said at least one EoE associated SNP comprises performing a process selected from 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.

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

4. The method of claim 1 , wherein the target sequence is a ribonucleic acid (RNA).

5. The method of claim 1 , wherein the nucleic acids are obtained from an isolated cell of the human subject.

6. The method of claim 1 , further comprising detecting at least one of an EoE associated SNP in a gene sequence from CAPN14, selected from
a G allele at rs78464756,
a G allele at rs74732520,
an A allele at rs143457388, and
an A allele at rs149864795.

7. The method of claim 1 , further comprising detecting at least one of an EoE associated SNP selected from
a T allele at rs55684690 in c11orf30,
a T allele at rs55684690 in c11orf30,
a G allele at rs12420744 in c11orf30,
a T allele at rs1893870 in c11orf30,
an A allele at rs7927830 in c11orf30,
a C allele at rs2156708 in c11orf30,
a G allele at rs871911 in c11orf30,
an A allele at rs59382353 in c11orf30,
a G allele at rs73004436 in c11orf30,
a G allele at rs4426156 in c11orf30,
a C allele at rs61894509 in c11orf30,
a G allele at rs61696910 in c11orf30,
an A allele at rs61894530 in c11orf30,
a T allele at rs11532107 in c11orf30,
a G allele at rs142931944 in c11orf30,
an A allele at rs11236766 in c11orf30,
a T allele at rs61894534 in c11orf30,
an A allele at rs11236767 in c11orf30,
a C allele at rs57790584 in c11orf30,
a T allele at rs7940373 in c11orf30,
a G allele at rs61894541 in c11orf30,
a G allele at rs1939469 in c11orf30,
an A allele at rs11236775 in c11orf30,
a T allele at rs61894547 in c11orf30,
a T allele at rs3758716 in c11orf30,
a T allele at rs3758715 in c11orf30,
a C allele at rs17134961 in c11orf30,
a T allele at rs2155221 in c11orf30, and
an A allele at rs55646091 in c11orf30.

8. The method of claim 1 , further comprising detecting at least one of an EoE associated SNP selected from a T allele at rs167769 in STAT6 and a T allele at rs73120411 in STAT6.

Assignees

• Childrens Hospital Philadelphia

Inventors

• Hakonarson Hakon
• Sleiman Patrick

Classifications

• G01N2500/10

  involving cells · CPC title

• G01N2800/06

  Gastro-intestinal diseases · CPC title

• C12Q1/6883 Primary

  for diseases caused by alterations of genetic material · CPC title

• C12Q2600/158

  Expression markers · CPC title

• C12Q2600/156

  Polymorphic or mutational markers · CPC title