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.

中文翻译：

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IL7RA基因变异差异影响IL-7Rα表达和选择性剪接：在自身免疫和传染性疾病中起作用？

白细胞介素7受体α链（IL-7Rα）单核苷酸多态性（SNP）与自身免疫性疾病和炎症性疾病等免疫病理学易感性有关。关于潜在机制的当前假说是基于通过影响可溶性（s）IL-7Rα变体的产生来调节自身反应性T细胞的IL-7可用性。该假设主要基于明确定义的IL7RA SNP rs6897932，它会影响其他剪接并导致sIL-7Rα变异体的异常产生，并对IL-7血清储库产生潜在影响。但是，最近的研究揭示了自身免疫风险相关IL7RA SNP的新功能，并指出了rs6897932对膜（m）IL-7Rα表达的很大程度上被忽略的作用。