作者: Saud Alromaih , Leandra Mfuna-Endam , Yohan Bosse , Abdelali Filali-Mouhim , Martin Desrosiers
DOI: 10.1002/ALR.21174
关键词: TAP1 、 TAP2 、 Tapasin 、 CD8A 、 Immunology 、 Odds ratio 、 Medicine 、 Allele 、 Immunodeficiency Syndrome 、 Genetic testing
摘要: Background A genetic basis to chronic rhinosinusitis (CRS) is postulated, but remains elusive. We have recently identified low levels of circulating CD8 lymphocytes as a frequent finding in difficult-to-treat or refractory CRS. In major histocompatibility complex 1 class (MHC1) deficiency, secondary mutations the cluster differentiation 8a (CD8A), tapasin (TAP1), 2 (TAP2), binding-protein (TAPBP) genes lead clinical syndrome, which associated with severe The objective this work was identify whether factors MHC1 deficiency are present CRS. Methods Previous results from genomewide association study CRS were screened for polymorphisms CD8A, TAP1, TAP2, and TAPBP immunodeficiency syndrome. Significant tested associations demographic characterizing CRS. Results Polymorphisms CD8A (rs3810831) (rs2282851) significantly Major allele homozygosity higher frequency affected relatives (p = 0.052), increased severity characterized by age at diagnosis 0.009), first surgery 0.004), number surgeries 0.008), whereas risk (odds ratio [OR] = 2.48, p = 0.0076). Conclusion Modified gene function may contribute development via altered reduction lymphocytes. Identification markers sequencing offer testing