Method to identify subjects at higher risk to develop an autoimmune disease based on genetic and/or phenotypic screening for epistatic variants in DDX39B (RS2523506) and IL7R (RS6897932)

US10961581B2 · kind B2 · utility

Assignees

• The Board of Regents of the University of Texas System · US
• Duke University · US
• Case Western Reserve · US
• The Regents of the University of California · US

Inventors

• Mariano A. Garcia-Blanco · Hillsborough, US
• Gaddiel Galarza-Munoz · Galveston, US
• Simon G. Gregory · Durham, US
• Farren B. S. Briggs · Cleveland Heights, US
• Lisa F. Barcellos · Corona, US
• Shelton S. Bradrick · Galveston, US
• Irina Evsyukova · Cedar Grove, US
• Dennis C. Ko · Durham, US

Key dates

• Filing date: Mar 22, 2018
• Grant date: Mar 30, 2021
• Expiry date: Oct 7, 2038

Classification

• Technology area (CPC C): Chemistry; Metallurgy
• CPC primary: C12Y306/04013
• WIPO field: Biotechnology
• WIPO sector: Chemistry

Abstract

The present invention includes a method, kits, and assays for identifying a human subject as having an increased risk of developing an autoimmune disease, or a human subject with multiple sclerosis caused by elevated soluble Interleukin 7 receptor (sIL7R), by obtaining a biological sample and detecting or measuring in the biological sample an amount of a soluble Interleukin-7 receptor (sIL7R) and an amount of an RNA Helicase DDX39B, whereby a lower expression of DDX39B and a higher secretion of sIL7R identifies the subject from which the biological sample was obtained as having an increased risk of developing an autoimmune disease, when compared to a human subject not having an autoimmune disease. The present invention also includes a method of modifying a treating of subjects based on the lower expression of RNA Helicase DDX39B alone or in combination with an increase in sIL7R.