Publications by authors named "Alexandra Aybar-Torres"

Article Synopsis
  • - The study highlights the growing awareness of a specific gene's role in tissue inflammation and cancer immunotherapy, focusing on common alleles found predominantly in East Asians and Africans, which may influence immune responses.
  • - Research conducted using knock-in mice reveals that certain alleles can prevent cell death caused by STING1 activation, leading to increased T-regulatory cells and demonstrating a potential link between STING1 and tissue inflammation.
  • - The findings suggest that understanding genetic variations in human populations is crucial for developing targeted STING1 immunotherapy, emphasizing the need to consider genetic diversity in modern human health studies.
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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.

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MPYS/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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