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首页> 外国专利> 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)

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)

机译：基于遗传和/或表型筛查的DDX39B（RS2523506）和IL7R（RS6897932）的基于遗传和/或表型筛选的高风险对象识别方法，以开发自动免疫疾病

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摘要

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.
机译：本发明包括通过获得生物学样品来鉴定人类受试者患有自身免疫疾病的风险增加或由可溶性白介素7受体（sIL7R）升高引起的多发性硬化的人类受试者的方法，试剂盒和测定并在生物样品中检测或测量一定量的可溶性白介素7受体（sIL7R）和一定量的RNA解旋酶DDX39B，从而使DDX39B的较低表达和sIL7R的较高分泌确定了该生物学样品的来源与不患有自身免疫疾病的人类受试者相比，获得的患上自身免疫疾病的风险增加。本发明还包括基于单独或与sIL7R增加组合的RNA解旋酶DDX39B的较低表达来修饰受试者的治疗的方法。

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