Division of Rheumatology, Department of Internal Medicine, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.
Rheumatol Int. 2013 Aug;33(8):2069-77. doi: 10.1007/s00296-013-2686-3. Epub 2013 Feb 13.
A genetic study, particularly in HLA-DRs, has never been performed in Thai patients with systemic sclerosis (SSc). This study was performed to investigate the association between the HLA-DR series in Thai SSc patients. HLA-DR subtypes were determined in 50 Thai SSc patients and 99 healthy controls (HCs). All SSc patients met the ACR classification criteria for SSc. HLA-DR typing was performed using INNO-LiPA HLA-DRB Decoder kits (INNOGENETICS) and reconfirmed using MICRO SSP HLA DNA Typing kits (ONE LAMBDA). The allele frequency (AF) of HLA-DR15, compared with HC, was significantly higher in all SSc patients (41.0 vs 21.7%, Pc = 0.0083) and SSc patients with anti-Scl70 antibody positive (anti-Scl70+) (47.1%, Pc = 0.0018). Among the HLA-DR15 alleles, the AF of the DRB115:02 was increased significantly in all SSc patients (29.0 vs 12.6%, Pc = 0.0219) and SSc patients with anti-Scl70+ (32.4 vs 12.6%, Pc = 0.0196). The AF of the HLA-DRB501:02 allele was also increased in all SSc patients (27.0 vs 12.6%, Pc = 0.0166) and in SSc patients with anti-Scl70+ (29.4%, Pc = 0.0124). The AF of the DR04 was significantly lower in the SSc patients (1.0 vs 9.6%, Pc = 0.0399). However, the AF of the DRB115:02 and DRB501:02 was not different among SSc patients with or without clinical manifestations (pulmonary fibrosis, digital pitting scar, sclerodactyly, myositis, and sicca symptoms). In addition, there was no significant association between clinical manifestations among individuals who carried HLA-DRB115:02 or DRB501:02. HLA-DRB115:02 and DRB501:02 alleles were significantly elevated in Thai SSc patients, especially in those with anti-Scl70+. The HLA-DRB104 was a protective allele against Thai SSc patients.
一项针对泰国系统性硬化症(SSc)患者的 HLA-DR 系列的遗传研究尚未进行。本研究旨在探讨泰国 SSc 患者 HLA-DR 系列与疾病的相关性。我们对 50 例泰国 SSc 患者和 99 例健康对照者(HCs)进行了 HLA-DR 亚型检测。所有 SSc 患者均符合 ACR 分类标准。采用 INNO-LiPA HLA-DRB Decoder 试剂盒(INNOGENETICS)进行 HLA-DR 分型,并使用 MICRO SSP HLA DNA Typing 试剂盒(ONE LAMBDA)进行再次确认。与 HCs 相比,所有 SSc 患者(41.0% vs. 21.7%,Pc = 0.0083)和抗 Scl70 抗体阳性(抗 Scl70+)的 SSc 患者(47.1%,Pc = 0.0018)中 HLA-DR15 的等位基因频率(AF)显著升高。在 HLA-DR15 等位基因中,DRB115:02 的 AF 在所有 SSc 患者中显著增加(29.0% vs. 12.6%,Pc = 0.0219),在抗 Scl70+的 SSc 患者中也显著增加(32.4% vs. 12.6%,Pc = 0.0196)。DRB501:02 等位基因的 AF 在所有 SSc 患者中也增加(27.0% vs. 12.6%,Pc = 0.0166),在抗 Scl70+的 SSc 患者中也增加(29.4%,Pc = 0.0124)。DR04 在 SSc 患者中的 AF 显著降低(1.0% vs. 9.6%,Pc = 0.0399)。然而,在有或无临床表现(肺纤维化、指压痕、硬皮病、肌炎和干燥症状)的 SSc 患者中,DRB115:02 和 DRB501:02 的 AF 没有差异。此外,携带 HLA-DRB115:02 或 DRB501:02 的个体之间的临床表现也没有显著相关性。HLA-DRB115:02 和 DRB501:02 等位基因在泰国 SSc 患者中显著升高,尤其是在抗 Scl70+的患者中。HLA-DRB104 是泰国 SSc 患者的保护性等位基因。