Chen Yu, Kang Jian, Wu Min, Azuma Arata, Zhao Li
Department of Respiratory Medicine, Shengjing Hospital, China Medical University, China.
Intern Med. 2012;51(3):271-6. doi: 10.2169/internalmedicine.51.6483. Epub 2012 Feb 1.
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.
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.
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).
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.
弥漫性泛细支气管炎(DPB)是一种主要影响东亚人的进行性炎症性肺部疾病。在日本,DPB的遗传易感性与人类白细胞抗原HLA - B54相关,在韩国则与HLA - A11相关。然而,尚未在中国人群中对DPB发病机制进行系统的遗传学研究。本研究的目的是调查中国DPB患者中HLA与疾病易感性之间可能存在的关联。
对1983年至2010年间发表的关于中国DPB患者的中英文研究进行文献综述。70名受试者符合纳入标准,并根据地理区域对HLA基因频率进行回顾性分析。
在中国北方组中,DPB患者的HLA - B54频率显著高于对照组(35.7%对4.6%,p = 7.5×10⁻⁷)。尽管中国南方患者中HLA - B54频率略有增加,但与对照组相比差异不显著(14.3%对5.7%,p = 0.28)。在中国南方组中,DPB患者的HLA - A11频率显著高于对照组(54.8%对26.4%,p = 0.009)。尽管中国北方组中HLA - A11频率有所增加,但与对照组相比未发现HLA - A11频率有显著差异(42.9%对30.8%,p = 0.535)。在中国南方组中,DPB患者的HLA - A2频率显著低于对照组(22.9%对66.0%,p = 0.001)。然而,在中国北方组中未发现HLA - A2频率有显著差异(50.0%对46.9%,p = 0.872)。
HLA - B54和HLA - A11分别与中国北方和南方的DPB呈正相关。人群亚结构可能影响中国DPB的遗传易感性。