Division of Rheumatology, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
Institute of Medical Informatics, College of Electrical Engineering and Computer Science, National Cheng Kung University, Tainan, Taiwan.
Kaohsiung J Med Sci. 2024 Oct;40(10):934-941. doi: 10.1002/kjm2.12885. Epub 2024 Aug 8.
Different human leukocyte antigen (HLA) genotypes have been known to be associated with the risk of development of Sjögren's syndrome in different populations, but this association has never been reported in Taiwan. We enrolled 1044 subjects (673 patients, 371 controls) and tested their HLA-DR genotypes. We found an increased risk of Sjögren's syndrome in patients carrying HLA-DR8. DR1 and DR14 were associated with increased risk of eye involvement (uveitis, scleritis or optic neuritis), while DR15 was associated with increased risk of interstitial lung disease. DR8 was associated with increased risk of formation of multiple antibodies: anti-Ro, rheumatoid factor and antinuclear antibodies (ANA) reaching titer 1:80 or above. DR9 was associated with decreased risk of formation of anti-La antibodies and increased risk of formation of antithyroglobulin antibodies. DR10 was associated with risk of formation of anticyclic citrullinated peptide (anti-CCP) antibodies, and DR11 was associated with increased risk of formation of anti-La antibodies. Oral ulcer was found to be negatively associated with anti-Ro antibodies and with anti-ENA antibodies. Skin lesions were associated with ANA antibody titer elevation to 1:80 or above. Malignancies of any kind were associated with the presence of cryoglobulin. Females were more likely to be diagnosed at a younger age than males. There was no statistically significant relationship between HLA-DR genotype and age at disease diagnosis. In patients with Sjögren's syndrome in Taiwan, the presence of HLA-DR8 appeared to be a risk factor. In addition, we found several associations between HLA-DR genotype, clinical presentation, and autoantibody status among them.
不同的人类白细胞抗原(HLA)基因型已被证实与不同人群干燥综合征的发病风险相关,但在台湾尚未有相关报道。我们招募了 1044 名受试者(673 名患者,371 名对照)并检测了他们的 HLA-DR 基因型。我们发现 HLA-DR8 携带的患者患干燥综合征的风险增加。DR1 和 DR14 与眼部受累(葡萄膜炎、巩膜炎或视神经炎)的风险增加相关,而 DR15 与间质性肺病的风险增加相关。DR8 与多种抗体的形成增加相关:抗 Ro、类风湿因子和抗核抗体(ANA)滴度达到 1:80 或以上。DR9 与抗 La 抗体形成减少和抗甲状腺球蛋白抗体形成增加相关。DR10 与抗环瓜氨酸肽(抗 CCP)抗体形成相关,而 DR11 与抗 La 抗体形成增加相关。口腔溃疡与抗 Ro 抗体和抗 ENA 抗体呈负相关。皮肤损伤与 ANA 抗体滴度升高至 1:80 或以上相关。任何类型的恶性肿瘤都与冷球蛋白的存在相关。女性比男性更容易在较年轻时被诊断出患有该病。HLA-DR 基因型与疾病诊断时的年龄之间没有统计学上的显著关系。在台湾的干燥综合征患者中,HLA-DR8 的存在似乎是一个风险因素。此外,我们还发现 HLA-DR 基因型、临床特征和自身抗体状态之间存在一些关联。