Stasiak Magdalena, Tymoniuk Bogusław, Michalak Renata, Stasiak Bartłomiej, Kowalski Marek L, Lewiński Andrzej
Department of Endocrinology and Metabolic Diseases, Polish Mother's Memorial Hospital Research Institute, 281/289 Rzgowska St., 93-338 Lodz, Poland.
Department of Immunology, Rheumatology and Allergy, Medical University of Lodz, 251 Pomorska St, 92-213 Lodz, Poland.
J Clin Med. 2020 Feb 16;9(2):534. doi: 10.3390/jcm9020534.
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 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. 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 , 23.3% had , 28.3% had and 75.5% had . 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 < 0.05. In addition to its previously described relationship with , genetic susceptibility to SAT was associated with the presence of and . The alleles and were independent SAT risk factors. The assessment of these four alleles allows the confirmation of genetic predisposition in almost all patients with SAT.
亚急性甲状腺炎（SAT）是一种甲状腺炎性疾病，其发病机制仍未完全明确。既往病毒感染被认为是遗传易感性个体的触发因素。在约70%的患者中，SAT易感性与该等位基因相关。SAT与其他人类白细胞抗原（HLA）之间的相关性尚未得到明确证实，约30%的患者遗传背景仍不清楚。我们研究的目的是使用下一代测序方法进行HLA基因分型，以查明除HLA - B*35之外的等位基因是否与SAT发病率相关。在1083名受试者中使用下一代测序方法进行基因分型，其中包括60例SAT患者和1023名健康对照。在60例诊断为SAT的患者中，81.7%的受试者被鉴定为具有该等位基因，23.3%具有，28.3%具有，75.5%具有。这些等位基因在对照组中的出现频率分别为10.2%、7.2%、12.9%和12.5%。差异具有统计学意义，P < 0.05。除了先前描述的与的关系外，SAT的遗传易感性还与和的存在有关。和等位基因是独立的SAT危险因素。对这四个等位基因的评估几乎可以确认所有SAT患者的遗传易感性。
