CXR4 as a susceptibility locus in juvenile idiopathic arthritis (JIA) and methods of use thereof for the treatment and diagnosis of the same

Patent metadata

Field	Value
Publication number	US-11499194-B2
Application number	US-201916413664-A
Country	US
Kind code	B2
Filing date	May 16, 2019
Priority date	Nov 11, 2010
Publication date	Nov 15, 2022
Grant date	Nov 15, 2022

Abstract

Compositions and methods useful for the diagnosis and treatment of juvenile idiopathic arthritis are disclosed.

First claim

What is claimed is:

1. A method for the treatment of Juvenile Idiopathic Arthritis (JIA) in a human subject in need thereof comprising;
a) testing a DNA sample from said subject for the presence of:
i) JIA-associated single nucleotide polymorphisms (SNPs) selected from:
1. major allele T at rs953387;
2. major allele C at rs1123848;
3. major allele A at rs4954564;
4. major allele G at rs1016269; and

ii) JIA-associated single nucleotide variations (SNVs) selected from:
1. a C to A substitution at nucleotide position 1049 of the CXCR4 cDNA which results in an S to Y amino acid change at amino acid position 350 of the CXCR4 protein;
2. an A to C substitution at nucleotide position 169 of the CXCR4 cDNA which results in an I to L amino acid change at position 57 of the CXCR4 protein;
3. a C to G substitution at nucleotide position 19 of the CXCR4 cDNA which results in a L to V amino acid change at amino acid position 7 of the CXCR4 protein; and
4. a T to A substitution at nucleotide position 14 of the CXCR4 cDNA which results in the presence of a stop codon in place of amino acid L at position 5 of the CXRC4 protein;

b) detecting the presence of any of said SNV and/or SNP as indicative that said subject has an increased risk for developing JIA; and
c) administering an effective amount of an anti-CXCR4 antibody to the subject.

2. The method of claim 1 , wherein said anti-CXCR4 antibody modulates the inflammatory process.

3. The method of claim 1 , wherein said anti-CXCR4 antibody modulates cytokine release.

Assignees

• Childrens Hospital Philadelphia

Inventors

• Finkel Terri H
• Zhang Haitao
• Hakonarson Hakon

Classifications

• G01N33/5041

  involving analysis of members of signalling pathways · CPC title

• G01N2800/102

  Arthritis; Rheumatoid arthritis, i.e. inflammation of peripheral joints · CPC title

• C12Q2600/118

  Prognosis of disease development · CPC title

• C12Q2600/156

  Polymorphic or mutational markers · CPC title

• C12Q2600/136

  Screening for pharmacological compounds · CPC title