PDF(Pubmed)
Abstract：
Objective: To determine if host genetics may be a risk factor for severe blastomycosis.Design: A cohort of patients who had contracted blastomycosis underwent targeted SNP (single nucleotide polymorphism) genotyping. The genetics of these patients were compared to a set of age and gender-matched controls and between patients with severe versus mild to moderate blastomycosis.Setting: The Marshfield Clinic Health System in central and northern WisconsinParticipants: Patients with a diagnosis of blastomycosis prior to 2017 were contacted for enrollment in this study. A phone hotline was also set up to allow interested participants from outside the Marshfield Clinic Health System to request enrollment.Methods: SNP frequency was assessed for significant differences between the patient cohort and controls and between patients with severe versus mild to moderate blastomycosis. We also tested the effect of Blastomyces species identified in clinical isolates on disease symptoms and severity.Results: No significant differences were found in SNP frequency between cases and controls or between those with severe or mild to moderate blastomycosis. We did detect significant differences in symptom frequency and disease severity by Blastomyces species.Conclusions: Our study did not identify any genetic risk factors for blastomycosis. Instead, the species of Blastomyces causing the infection had a significant effect on disease severity.
摘要：
目的：确定宿主遗传学是否可能是严重胚真菌病的危险因素。设计：一组患有芽生菌病的患者接受了靶向SNP（单核苷酸多态性）基因分型。将这些患者的遗传学与一组年龄和性别匹配的对照以及重度与轻度至中度胚真菌病患者之间进行比较。地点：威斯康星州中部和北部的Marshfield诊所卫生系统参与者：与2017年之前诊断为芽生菌病的患者联系以参加本研究。还设立了电话热线，允许来自马什菲尔德诊所卫生系统以外的感兴趣的参与者申请注册。方法：评估患者队列与对照组之间以及重度与轻度至中度胚真菌病患者之间的SNP频率。我们还测试了在临床分离株中鉴定的胚芽菌属物种对疾病症状和严重程度的影响。结果：病例与对照组之间或重度或轻度至中度胚真菌病之间的SNP频率没有显着差异。我们确实发现了胚芽胞属物种在症状频率和疾病严重程度上的显着差异。结论：我们的研究没有发现芽生菌病的任何遗传风险因素。相反，引起感染的芽孢杆菌的种类对疾病的严重程度有显著影响。
