The significance of STING (encoded by the gene) in tissue inflammation and cancer immunotherapy has been increasingly recognized. Intriguingly, common human alleles R71H-G230A-R293Q ( and G230A-R293Q () are carried by ~60% of East Asians and ~40% of Africans, respectively. Here, we examine the modulatory effects of alleles on STING-associated vasculopathy with onset in infancy (SAVI), an autosomal dominant, fatal inflammatory disease caused by gain-of-function human mutations.
View Article and Find Full Text PDFMPYS/STING (stimulator of IFN genes) senses cyclic dinucleotides (CDNs), generates type I IFNs, and plays a critical role in infection, inflammation, and cancer. In this study, analyzing genotype and haplotype data from the 1000 Genomes Project, we found that the R71H-G230A-R293Q (HAQ) MPYS allele frequency increased 57-fold in East Asians compared with sub-Saharan Africans. Meanwhile, the G230A-R293Q (AQ) allele frequency decreased by 98% in East Asians compared with sub-Saharan Africans.
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