Summary: | Subacute thyroiditis (SAT) is a thyroid inflammatory disease whose pathogenesis is still not completely defined. Previous viral infection is considered to be a triggering factor in genetically predisposed individuals. In about 70% of patients, susceptibility to SAT is associated with the <i>HLA-B*35</i> allele. The correlation between SAT and other human leukocyte antigens (HLA) has not yet been unequivocally demonstrated and the genetic background is still unknown in about 30% of patients. The purpose of our study was to perform HLA genotyping using a next-generation sequencing method, to find out whether alleles other than HLA-B*35 are correlated with SAT morbidity. <i>HLA-A, -B, -C, -DQB1, -DRB1</i> were genotyped using a next-generation sequencing method in 1083 subjects, including 60 SAT patients and 1023 healthy controls. Among 60 patients diagnosed with SAT, 81.7% of subjects were identified as having allele <i>HLA-B*35</i>, 23.3% had <i>HLA-B*18:01</i>, 28.3% had <i>HLA-DRB1*01</i> and 75.5% had <i>HLA-C*04:01</i>. These alleles occurred in the control group at frequencies of 10.2%, 7.2%, 12.9% and 12.5%, respectively. The differences were statistically significant, with <i>p</i> < 0.05. In addition to its previously described relationship with <i>HLA-B*35</i>, genetic susceptibility to SAT was associated with the presence of <i>HLA-B*18:01, DRB1*01</i> and <i>C*04:01</i>. The alleles <i>HLA-B*18:01</i> and <i>DRB1*01</i> were independent SAT risk factors. The assessment of these four alleles allows the confirmation of genetic predisposition in almost all patients with SAT.
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