IL7RA genetic variants differentially affect IL-7Rα expression and alternative splicing: a role in autoimmune and infectious diseases?

被引：0
作者：
Christian Lundtoft
Julia Seyfarth
Marc Jacobsen
机构：
[1] University Children’s Hospital,Department of General Pediatrics, Neonatology, and Pediatric Cardiology, Medical Faculty
来源：
Genes & Immunity | 2020年 / 21卷
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摘要：
Interleukin-7 receptor α chain (IL-7Rα) single nucleotide polymorphisms (SNPs) are associated with susceptibility to immunopathologies like autoimmune and inflammatory diseases. The current hypothesis about underlying mechanisms is based on the regulation of IL-7 availability for self-reactive T cells by influencing the generation of a soluble (s)IL-7Rα variant. This assumption was mainly predicated on the well-defined IL7RA SNP rs6897932, which affects alternative splicing and causes aberrant generation of the sIL-7Rα variant with potential effects on the IL-7 serum reservoir. However, more recent studies shed light on novel functions of autoimmunity risk-associated IL7RA SNPs and characterized the largely neglected effect of rs6897932 on membrane (m)IL-7Rα expression. These findings as well as a described role of impaired mIL-7Rα expression and IL7RA SNP influence on chronic infectious diseases necessitates the reevaluation of previous findings on the role of IL7RA SNPs in immunopathology.
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页码：83 / 90
页数：7
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