Stasiak Magdalena, Tymoniuk Bogusław, Adamczewski Zbigniew, Stasiak Bartłomiej, Lewiński Andrzej
Department of Endocrinology and Metabolic Diseases, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.
Department of Immunology, Rheumatology and Allergy, Medical University of Lodz, Lodz, Poland.
Front Endocrinol (Lausanne). 2019 Jan 23;10:3. doi: 10.3389/fendo.2019.00003. eCollection 2019.
Since 1977 the susceptibility to SAT has been known to be HLA-B35-related in ~70% of patients. Recently it has been demonstrated that SAT is associated with the presence of HLA-B18:01 and DRB101, as well as with HLA-C04:01. The association between the type of genetic SAT background and sonographic pattern of the disease has never been analyzed. The aim of the study was to evaluate the potential correlation between the presence of individual HLA haplotypes and the sonographic SAT pattern, and to provide the US characteristics of the analyzed SAT cases. HLA-A, -B, -C, -DQB1, and -DRB1 were genotyped using a next-generation sequencing method in 46 SAT patients. All patients were divided into the following groups according to the HLA haplotype: 1. HLA-B35 and/or HLA-C04, but without any other of the analyzed antigens; 2. HLA-DRB101, regardless of the co-presence of HLA-B35 or C04:01, but without HLA-B18:01; 3. HLA-B18:01 only, without any other of the analyzed antigens; 4. HLA-B18:01 plus B35, regardless of the presence of any other analyzed antigens. The US patterns of SAT thyroid lesions were compared among the groups. The US image of SAT lesions in Groups 1 and 2 were similar. The typical SAT features for these groups were as follows: hypoechoic, strongly heterogeneous, bilateral, multiple areas, with decreased vascularization, usually oval with blurred margins, infrequently affecting the whole lobe, or having nodule-like pattern. Several features of Group 3 were different from the other groups. In 60% of cases lesions were rather homogeneous, and in 100%-hypoechoic, in 80% of patients there was only one unilateral single SAT area filling the whole affected lobe. On the contrary to the other groups, in Group 4 no lesion was oval in shape. Our results provide for the first time the evidence that the US pattern of SAT lesions depends on HLA, and the determining factor is the presence of HLA-B18:01. The deviations from the typical SAT US image are mostly pronounced in patients with the presence of only HLA-B18:01, without any other analyzed haplotype. Further research is necessary to explain this phenomenon.
自1977年以来,已知约70%的患者对亚急性甲状腺炎(SAT)的易感性与HLA - B35相关。最近有研究表明,SAT与HLA - B18:01、DRB101以及HLA - C04:01的存在有关。但从未分析过SAT的基因背景类型与该病超声图像特征之间的关联。本研究的目的是评估个体HLA单倍型的存在与SAT超声图像特征之间的潜在相关性,并提供所分析的SAT病例的超声特征。采用下一代测序方法对46例SAT患者进行了HLA - A、-B、-C、-DQB1和-DRB1基因型检测。所有患者根据HLA单倍型分为以下几组:1. HLA - B35和/或HLA - C04,但不包含任何其他所分析的抗原;2. HLA - DRB101,无论是否同时存在HLA - B35或C04:01,但不包含HLA - B18:01;3. 仅HLA - B18:01,不包含任何其他所分析的抗原;4. HLA - B18:01加B35,无论是否存在任何其他所分析的抗原。比较了各组SAT甲状腺病变的超声图像特征。第1组和第2组SAT病变的超声图像相似。这些组的典型SAT特征如下:低回声、高度不均匀、双侧、多个区域、血管化减少,通常为椭圆形且边缘模糊,很少累及整个叶,或呈结节样形态。第3组的几个特征与其他组不同。在60%的病例中,病变相当均匀,100%为低回声,80%的患者只有一个单侧单一的SAT区域占据整个受累叶。与其他组相反,第4组没有病变呈椭圆形。我们的研究结果首次提供了证据,表明SAT病变的超声图像特征取决于HLA,决定因素是HLA - B18:01的存在。仅存在HLA - B18:01而无任何其他所分析单倍型的患者,其SAT典型超声图像的偏差最为明显。需要进一步研究来解释这一现象。