Background Diffuse panbronchiolitis (DPB) is a progressive inflammatory pulmonary disease that predominately affects East Asians. Genetic susceptibility to DPB is correlated with the human leukocyte antigens HLA-B54 in Japanese and HLA-A11 in Koreans. However, no systematic genetic study of DPB pathogenesis has been conducted in the Chinese population. The aim of this study was to investigate the possible association between HLA and disease susceptibility in Chinese patients with DPB.
Methods A literature review of both Chinese and English language studies on Chinese DPB patients, published between 1983 and 2010, was conducted. Seventy subjects met the inclusion criteria and were retrospectively analyzed for HLA gene frequency according to geographic region.
Results HLA-B54 frequency was significantly greater in DPB patients than in controls in the Northern Chinese group (35.7% vs. 4.6%, p=7.5×10-7). Although the HLA-B54 frequency was slightly increased in the Southern Chinese patients, the difference was not significant compared with control subjects (14.3% vs. 5.7%, p=0.28). The HLA-A11 frequency was significantly greater in DPB patients than controls in the Southern Chinese group (54.8% vs. 26.4%, p=0.009). Despite an increase of HLA-A11 frequency in the Northern Chinese group, no significant variation in HLA-A11 frequency was found compared with control subjects (42.9% vs. 30.8%, p=0.535). The HLA-A2 frequency was significantly decreased in DPB patients than in controls in the Southern Chinese group (22.9% vs. 66.0%, p=0.001). However, no significant difference in HLA-A2 frequency was found in the Northern Chinese group (50.0% vs. 46.9%, p=0.872).
Conclusion HLA-B54 and HLA-A11 were positively associated with DPB in Northern and Southern Chinese, respectively. Population substructure may impact the genetic predisposition of DPB in China.