Yao syndrome (OMIM #617321) is an immunoinflammatory disease that was first identified and described by Dr. Qingping Yao and colleagues in 2011. Dr. Yao, from the Division of Rheumatology, Allergy, and Immunology in the Department of Medicine at Stony Brook University, has led a collaborative research project with Dr. Song Wu, PhD—a statistician and biologist in the Department of Applied Mathematics at Stony Brook University—and Dr. Zuoming Deng, PhD, from the Biodata Mining and Discovery Section at the NIH.
Together, they published an original research article titled “Utilization of the All of Us Research Program in Study of Genetics in Yao Syndrome” in the Journal of Allergy and Clinical Immunology (JACI), an Official Journal of AAAAI https://www.jacionline.org/article/S0091-6749(25)01118-2/fulltext. JACI is a highly influential journal, recognized as the most cited and having the largest circulation in the field of allergy and clinical immunology. In this study, the researchers compared a large cohort of patients with autoinflammatory diseases to whole-genome data from 128,196 participants in the All of Us Research Program.
The study of population genetics has confirmed the significant association between certain NOD2 mutations and Yao syndrome. Furthermore, haplotype analyses using linkage disequilibrium method have revealed the co-inheritance of commonly occurring mutations. This large case-control study provides important insights into the genetic mechanisms underlying Yao syndrome and holds significant implications for genetic testing, result interpretation, genomic diagnosis, and patient counseling.
Below, Dr. Qingping Yao and Dr. Song Wu
