Don C. Gnocchi Foundation ONLUS, IRCCS, 20100 Milan, Italy.
Don C. Gnocchi Foundation ONLUS, IRCCS, 20100 Milan, Italy; Department of Physiopathology and Transplantation, University of Milan, 20090 Milano, Italy.
J Neuroimmunol. 2014 Jun 15;271(1-2):49-52. doi: 10.1016/j.jneuroim.2014.04.006. Epub 2014 Apr 16.
IFI16 encodes a nucleic acid-sensor which detects latent EBV and triggers inflammasome activation. We analysed IFI16 variants in two multiple sclerosis (MS) case-control cohorts from Italy and Spain; results were combined with a previous study. A risk variant for celiac disease/rheumatoid arthritis, a polymorphic exon 7 duplication, and a copy number variant (CNV) in the 5' region were genotyped. No significant association was detected, although heterogeneity was noted for the 5' CNV in the Italian plus GeneMSA cohorts and the Spanish sample. Thus, IFI16 variants do not contribute to MS susceptibility, although some heterogeneity may exist for the 5' CNV.
IFI16 编码一种核酸传感器,可检测潜伏的 EBV 并触发炎症小体激活。我们分析了来自意大利和西班牙的两个多发性硬化症(MS)病例对照队列中的 IFI16 变体;结果与之前的研究相结合。对乳糜泻/类风湿关节炎的风险变体、多态性外显子 7 重复和 5' 区域的拷贝数变异(CNV)进行了基因分型。虽然在意大利加 GeneMSA 队列和西班牙样本中,5' CNV 存在异质性,但未检测到显著相关性。因此,IFI16 变体不会导致 MS 易感性,尽管 5' CNV 可能存在一些异质性。