HLA Associations in Czech Patients with Sarcoidosis

Objective: Sarcoidosis is immune-mediated disease, in the pathogenesis of which polymorphic genes of the immune system are involved. We have used next-generation sequencing (NGS) allowing detailed characterisation of HLA alleles to investigate the role of HLA variation in sarcoidosis. Methods: We enrolled 248 patients diagnosed by ATS/ERS/WASOG guidelines at Brno University Hospital. We performed genotyping of 7 HLA loci (HLA-A, -B, -C, -DRB1, -DQA1, -DQB1, -DPB1) by Omixon Holotype™ kit and HLATwin software™. HLA allele frequency was compared with data of HLA polymorphism distribution in the same loci with the same resolution typing by NGS in 168 unrelated Czech subjects. For the current analysis, 4 digit characteristics of HLA genotyping results were used. Associations were assessed by two-tailed Fischer’s exact test and Bonferroni correction for multiple comparisons. Results: Tab.1 shows 7 variants associated with sarcoidosis as a whole and Tab.2 illustrates 5 variants associated with Lofgren syndrome (LS). Conclusion: We document some previously described associations between sarcoidosis and HLA such as those in HLA-DQB1*06 and HLA-B*08 and, further suggest some novel. In future we plan to extend the work into dissecting relationships of HLA and clinical course, here indicated by LS association. Funding: NV18-05-00134, IGAUP:LF2021_014