IL5RA,即白介素5受体α亚基基因,编码白介素5受体α链,是白介素5受体复合物的重要组成部分。白介素5(IL-5)是一种重要的细胞因子,主要作用于嗜酸性粒细胞和肥大细胞,参与调节这些细胞的增殖、分化和功能。IL-5受体复合物由α和β两个亚基组成,其中α亚基负责与IL-5结合,而β亚基则参与信号传导过程。IL5RA基因位于人类3号染色体短臂3p24-3p26区域[5],其表达受到转录因子的调控,包括GATA-1、PU.1和C/EBP家族成员[3]。
IL5RA基因的变异与多种疾病的发生和发展相关。例如,IL5RA基因的变异与家族性IgA肾病(IgAN)的易感性相关[4]。此外,IL5RA基因的变异还与哮喘的易感性相关,尤其是在特应性人群中[7]。此外,IL5RA基因的变异还与慢性阻塞性肺疾病(COPD)的易感性相关,其中rs13097407和rs3856850两个SNPs的变异与COPD的易感性相关[6]。此外,IL5RA基因的变异还与嗜酸性食管炎(EoE)的诊断相关,IL5RA基因的表达可以作为EoE的非侵入性诊断生物标志物[2]。
IL5RA基因的表达与多种生物学过程相关。例如,IL5RA基因的表达与免疫浸润、免疫原性细胞死亡相关基因、免疫检查点相关基因和m6A修饰相关[1]。此外,IL5RA基因的表达还与多种信号通路相关,包括PI3K-Akt信号通路和自然杀伤细胞介导的细胞毒性通路[1]。此外,IL5RA基因的表达还与细胞凋亡和Hippo信号通路相关[1]。
综上所述,IL5RA基因是一种重要的基因,其变异与多种疾病的发生和发展相关,其表达与多种生物学过程相关。IL5RA基因的研究有助于深入理解IL-5信号通路在疾病发生和发展中的作用机制,为疾病的治疗和预防提供新的思路和策略。
参考文献:
1. Xu, Cong, Gao, Meng, Zhang, Junhua, Fu, Yunfeng. 2023. IL5RA as an immunogenic cell death-related predictor in progression and therapeutic response of multiple myeloma. In Scientific reports, 13, 8528. doi:10.1038/s41598-023-35378-z. https://pubmed.ncbi.nlm.nih.gov/37236993/
2. Sninsky, Jared A, Tsai, Yihsuan S, Liu, Siyao, Corcoran, David, Dellon, Evan S. 2023. Peripheral Blood IL5RA Gene Expression as a Diagnostic Biomarker for Eosinophilic Esophagitis. In Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association, 22, 1326-1329.e2. doi:10.1016/j.cgh.2023.10.028. https://pubmed.ncbi.nlm.nih.gov/37944574/
3. Laffey, Kimberly G, Du, Jian, Schrum, Adam G, Ackerman, Steven J. 2021. Transcriptional Regulation of the Human IL5RA Gene through Alternative Promoter Usage during Eosinophil Development. In International journal of molecular sciences, 22, . doi:10.3390/ijms221910245. https://pubmed.ncbi.nlm.nih.gov/34638583/
4. Liu, Xiao-Qing, Paterson, Andrew D, He, Ning, Cattran, Daniel, Pei, York. 2008. IL5RA and TNFRSF6B gene variants are associated with sporadic IgA nephropathy. In Journal of the American Society of Nephrology : JASN, 19, 1025-33. doi:10.1681/ASN.2007091013. https://pubmed.ncbi.nlm.nih.gov/18256354/
5. Isobe, M, Kumura, Y, Murata, Y, Takatsu, K, Ogita, Z. . Localization of the gene encoding the alpha subunit of human interleukin-5 receptor (IL5RA) to chromosome region 3p24-3p26. In Genomics, 14, 755-8. doi:. https://pubmed.ncbi.nlm.nih.gov/1427903/
6. Li, Siguang, Lin, Lingsang, Zhao, Jie, Ding, Yipeng, Xie, Tian. 2023. The Study of the Influence of IL5RA Variants on Chronic Obstructive Pulmonary Disease. In COPD, 20, 338-347. doi:10.1080/15412555.2023.2270729. https://pubmed.ncbi.nlm.nih.gov/37905709/
7. Cheong, Hyun Sub, Kim, Lyoung Hyo, Park, Byung Lae, Park, Choon-Sik, Shin, Hyoung Doo. 2005. Association analysis of interleukin 5 receptor alpha subunit (IL5RA) polymorphisms and asthma. In Journal of human genetics, 50, 628-34. doi:. https://pubmed.ncbi.nlm.nih.gov/16217591/