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)
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.
1. A method of selecting for treatment a subject with an autoimmune disease caused by lower levels of an RNA Helicase DDX39B, comprising:
obtaining a biological sample from a subject suspected of having an autoimmune disease;
detecting or measuring in the biological sample an amount of an RNA Helicase DDX39B, wherein a patient is elected for treatment if they have a lower expression or activity of the RNA Helicase DDX39B;
detecting or measuring in the biological sample an amount of the soluble interleukin-7 receptor (SiL7R); and
selecting a treatment for the subject that has increased levels of soluble interleukin-7 receptor (SiL7R) when compared to a sample from a human subject not having an autoimmune disease and decreased expression or activity of RNA Helicase DDX39B.
2. The method of claim 1 , further comprising selecting a treatment selected from mitoxatrone, interferon beta-1a, PEG-interferon beta-1a, azathioprine, fingolimod, natalizumab, or methylprednisone.