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.
Genes (Basel). 2023 May 31;14(6):1209. doi: 10.3390/genes14061209.
The risk of Graves' orbitopathy (GO) is related to the human leukocyte antigen (HLA) profile and was demonstrated to be increased in patients with elevated total cholesterol (TC) and/or low-density lipoprotein (LDL) cholesterol. We hypothesized that there were some HLA alleles that were related to both GO and TC and/or LDL levels. Therefore, the aim of the study was to compare the TC/LDL results in patients in whom GO-related HLA alleles were present to those in whom they did not occur. HLA classes were genotyped using a next-generation sequencing method in 118 patients with Graves' disease (GD), including 63 and 55 patients with and without GO, respectively. Lipid profiles were assessed at the time of the GD diagnosis. A significant correlation between the presence of GO high-risk alleles ( and ) and higher TC/LDL levels was found. Additionally, the presence of alleles associated with non-GO GD ( and ), as well as alleles in linkage disequilibrium with (i.e., and ), was correlated with lower TC levels. These results further confirm the significance of TC/LDL in the risk of GO development and provide evidence that associations between TC/LDL and GO can be HLA-dependent.
格雷夫斯眼病（GO）的发病风险与人类白细胞抗原（HLA）有关，并且在总胆固醇（TC）和/或低密度脂蛋白（LDL）胆固醇升高的患者中，GO 的发病风险增加。我们假设存在某些与 GO 和 TC 和/或 LDL 水平相关的 HLA 等位基因。因此，本研究旨在比较存在与 GO 相关的 HLA 等位基因的患者和不存在此类等位基因的患者的 TC/LDL 结果。在 118 例格雷夫斯病（GD）患者中，使用下一代测序方法对 HLA 进行了基因分型，其中分别有 63 例和 55 例患者存在和不存在 GO。在 GD 诊断时评估了血脂谱。发现存在 GO 高危等位基因（和）与 TC/LDL 水平升高显著相关。此外，存在与非 GO-GD 相关的等位基因（和）以及与（即和）连锁不平衡的等位基因，与 TC 水平降低相关。这些结果进一步证实了 TC/LDL 在 GO 发病风险中的重要性，并提供了证据表明 TC/LDL 与 GO 之间的关联可能依赖于 HLA。
