Gao Xiang, Han Lei, Yuan Lan, Yang Yongchen, Gou Guimei, Sun Hengjuan, Lu Ling, Bao Liming
Departments of Rheumatology and Occupational Medicine, Huashan Hospital of Fudan University, Shanghai, China.
BMC Dermatol. 2014 Jun 4;14:9. doi: 10.1186/1471-5945-14-9.
Polymyositis (PM) and dermatomyositis (DM) are idiopathic inflammatory myopathies. Genetic variability in human leukocyte antigen (HLA) genes plays an important role in the pathogenesis of PM and DM. However, few studies on the subject in Chinese populations have been reported thus far.
We studied the influence of HLA polymorphisms on DM and PM susceptibility by analyzing HLA-DRB1, HLA-DQA1, and HLA-DQB1 alleles in 71 adult DM patients, 20 adult PM patients, and 113 controls in a Han Chinese population.
A positive association was found between HLA-DQA10104 and DM (p = 0.01; corrected p (pcorr) NS; odds ratio (OR) = 2.58; 95% confidence interval (CI): 1.18-5.64), while an inverse correlation was noted between HLA-DQB10303 and myositis patients with interstitial lung inflammation (p = 0.01; pcorr NS; OR = 0.25; 95% CI: 0.07-0.73). A positive relationship was also observed between HLA-DRB107 and DM (p = 0.01; pcorr NS; OR = 2.26; 95% CI: 1.12-4.59), while HLA-DRB103 seems to be protective against DM (p = 0.01; pcorr NS; OR = 0.26; 95% CI: 0.06-0.81). The lung complication was closely associated with HLA-DRB104 (p = 0.01; pcorr NS; OR = 2.82; 95% CI: 1.15-6.76) and HLA-DRB112 (p = 0.02; pcorr NS; OR = 2.52; 95% CI: 1.02-6.07). The frequency of HLA-DRB107 was significantly higher among myositis patients with dysphagia than among controls (p = 0.01; pcorr NS; OR = 4.78; 95% CI: 1.03-24.42). The putative haplotype DRB107-DQA101-DQB102 was positively correlated with DM (p = 0.03; pcorr NS; OR = 2.90; 95% CI: 1.02-8.93) and the lung complication (p = 0.02; pcorr NS; OR = 3.45; 95% CI: 1.04-11.58).
Our results demonstrate that HLA alleles may be involved in susceptibility to adult DM and PM in the Han Chinese population.
多发性肌炎（PM）和皮肌炎（DM）是特发性炎性肌病。人类白细胞抗原（HLA）基因的遗传变异性在PM和DM的发病机制中起重要作用。然而，迄今为止，针对中国人群该主题的研究报道较少。
我们通过分析71例成年DM患者、20例成年PM患者和113例汉族对照人群的HLA-DRB1、HLA-DQA1和HLA-DQB1等位基因，研究HLA多态性对DM和PM易感性的影响。
发现HLA-DQA10104与DM呈正相关（p = 0.01；校正p（pcorr）无统计学意义；优势比（OR）= 2.58；95%置信区间（CI）：1.18 - 5.64），而HLA-DQB10303与间质性肺炎的肌炎患者呈负相关（p = 0.01；pcorr无统计学意义；OR = 0.25；95% CI：0.07 - 0.73）。还观察到HLA-DRB107与DM呈正相关（p = 0.01；pcorr无统计学意义；OR = 2.26；95% CI：1.12 - 4.59），而HLA-DRB103似乎对DM有保护作用（p = 0.01；pcorr无统计学意义；OR = 0.26；95% CI：0.06 - 0.81）。肺部并发症与HLA-DRB104（p = 0.01；pcorr无统计学意义；OR = 2.82；95% CI：1.15 - 6.76）和HLA-DRB112（p = 0.02；pcorr无统计学意义；OR = 2.52；95% CI：1.02 - 6.07）密切相关。吞咽困难的肌炎患者中HLA-DRB107的频率显著高于对照组（p = 0.01；pcorr无统计学意义；OR = 4.78；95% CI：1.03 - 24.42）。假定单倍型DRB107 - DQA101 - DQB102与DM呈正相关（p = 0.03；pcorr无统计学意义；OR = 2.90；95% CI：1.02 - 8.93）和肺部并发症呈正相关（p = 0.02；pcorr无统计学意义；OR = 3.45；95% CI：1.04 - 11.58）。
我们的结果表明，HLA等位基因可能参与汉族人群成年DM和PM的易感性。
