中文摘要：

目的：探讨 Dectin-2基因多态性与肺隐球菌病易感性的关联。方法收集134例非HIV 相关肺隐球菌病患者为病例组，464名门诊健康体检者为对照组。提取受试者外周血白细胞DNA，采用多重 SNaPshot 单核苷酸多态性分型技术，对位于 Dectin-2基因5′区的位点 rs11045418进行基因分型。分别比较病例组与健康对照组、无免疫低下基础疾病患者与健康对照组 Dectin-2基因多态性的分布差异。数据采用χ2检验。结果134例患者中确诊32例，临床诊断102例，其中无免疫低下基础疾病患者82例。根据感染部位分布，单纯肺隐球菌病72例，播散性隐球菌病62例。有3例患者的标本未能进行基因分型，其中1例为无免疫低下基础疾病患者。与健康对照组相比，rs11045418 CT杂合子在131例病例组中的比例有增加趋势（59％比50％，OR ＝1．44，95％CI ：0．97～2．13，P ＝0．069），在81例无免疫低下基础疾病患者中显著升高（64％比50％，OR ＝1．82，95％CI ：1．11～2．95， P ＝0．017）。在肺隐球菌病患者中，单纯肺隐球菌病和播散性隐球菌病患者的 rs11045418基因型分布差异无统计学意义。结论Dectin-2 rs11045418 CT 杂合子基因多态性与中国汉族人群非 HIV 相关肺隐球菌病的易感性相关，提示 Dectin-2受体功能改变在肺隐球菌病的发生、发展中起重要作用。

英文摘要：

Objective To investigate the association between genetic polymorphisms of Dectin-2 and pulmonary cryptococcosis.Methods A total of 134 non-human immunodeficiency virus （HIV）patients with pulmonary cryptococcosis and 464 healthy controls were included in this case control study.The peripheral leucocyte DNA was extracted and genotyping was performed by multiplex SNaPshot technology.The single nucleotide polymorphism （SNP）of rs11045418 located at 5′-flanking locus of Dectin-2 gene was genotyped.Patients without predisposing conditions were compared independently.The differences of gene polymorphism distributions compared between pulmonary patients and healthy control, and between patients without predisposing conditions and healthy control.All data were analyzed withχ2 tests.Results Among the total 134 patients,82 patients had no predisposing factors.Thirty two patients met the proven diagnosis criteria and 102 patients were probable pulmonary cryptococcosis.According to the site of infection, 72 patients had local infection in lungs and 62 patients had disseminated cryptococcosis.Three samples failed in genotyping,one of which was a patient without predisposing factor.Compared with the control group,there was a trend of increasing proportion of heterozygote rs11045418 CT in the 131 pulmonary cryptococcosis patients （59% vs 50%,P =0.069,OR=1.44,95%CI ：0.97-2.13）,and the heterozygote was significantly increased in 81 patients without predisposing conditions（64% vs 50%,P =0.017,OR= 1 .82,95 %CI ：1 .11 -2.95 ）.No significant difference of genotype distribution was found between the local and disseminated infection patients.Conclusion Our study shows that rs11045418 CT heterozygote in Dectin-2 is associated with the susceptibility of pulmonary cyrptococcosis among non-HIV-infected Chinese patients,which indicated that the change of Dectin-2 receptor may play a role in the pathogenesis of pulmonary cyrptococcosis.