Abstract
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 HLA-B*35 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. HLA-A, -B, -C, -DQB1, -DRB1 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 HLA-B*35, 23.3% had HLA-B*18:01, 28.3% had HLA-DRB1*01 and 75.5% had HLA-C*04:01. 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 p < 0.05. In addition to its previously described relationship with HLA-B*35, genetic susceptibility to SAT was associated with the presence of HLA-B*18:01, DRB1*01 and C*04:01. The alleles HLA-B*18:01 and DRB1*01 were independent SAT risk factors. The assessment of these four alleles allows the confirmation of genetic predisposition in almost all patients with SAT.
Highlights
Subacute thyroiditis (SAT) is a thyroid inflammatory disease of still-uncertain pathogenesis
Among 60 patients diagnosed with SAT, 49 (81.7%) subjects were identified as having human leukocyte antigens (HLA)-B*35, 14 (23.3%) with HLA-B*18:01, 17 (28.3%) with HLA-DRB1*01, 45 (75.5%) with HLA-C*04:01, seven (11.7%) with HLA-C*03, and four (6.7%) with HLA-DRB1*08 (Table 1)
Our study, carried out in a large cohort with the application of the high-resolution HLA typing method, confirmed such correlation and revealed the strength of it, since we demonstrated the presence of HLA-C*04:01 in 75.5% of the SAT patients, as compared to in 12.5% of the control group
Summary
Subacute thyroiditis (SAT) ( called granulomatous thyroiditis, giant cell thyroiditis or de Quervain’s thyroiditis) is a thyroid inflammatory disease of still-uncertain pathogenesis. The prevalence of SAT is the highest in middle aged women, and female patients account for 75%–80% of individuals with the disease [1,2]. Patients usually complain of asthenia and malaise, and some symptoms of thyrotoxicosis may be present. Laboratory findings include a characteristically high erythrocyte sedimentation rate (ESR). The C reactive protein (CRP) level is elevated and laboratory markers of hyperthyroidism are often present, but the level of thyroid antibodies is normal in most patients [2,3,4]. The ultrasound (US) features of SAT include hypoechoic and heterogeneous areas with blurred margins, and poor vascularization according to the Color Doppler [8,9]
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