Thomsen Simon Francis, van der Sluis Sophie, Kyvik Kirsten Ohm, Backer Vibeke
Department of Respiratory Medicine, Bispebjerg Hospital, Copenhagen, Denmark.
Clin Respir J. 2012 Oct;6(4):228-37. doi: 10.1111/j.1752-699X.2011.00273.x. Epub 2011 Dec 14.
The tendency to develop asthma runs in families, but whether the severity of asthma symptoms is inherited is not known.
The aim of this study was to examine whether genetic factors influence the variation in the severity of asthma.
Of a sample of 21 133 adult twins from the Danish Twin Registry, a total of 575 subjects (256 intact pairs and 63 single twins) who themselves and/or their co-twins reported a history of asthma at a questionnaire survey were clinically examined. The severity of asthma symptoms was graded according to a clinical interview, and markers of airway impairment and allergy were measured.
After adjusting for confounders, genetic factors explained 24% (10%-37%), P = 0.0004, of the variation in overall asthma symptom severity, whereas non-shared environment accounted for the remaining 76% of the variation. A significant genetic component was also found for the severity of specific asthma symptoms; wheezing 12% (3%-22%), P = 0.007 and shortness of breath 17% (7%-27%), P = 0.0006, but not for chest tightness and cough. Asthma symptom severity correlated weakly with rhinitis severity as well as with objective markers of lung function, airway inflammation, airway responsiveness and allergic sensitization.
The individual variation in asthma symptom severity is to some degree influenced by genetic factors, but environmental factors explain the main part of the variation. The genetic architectures underlying the severity of asthma symptoms and objectively measured asthma-related traits, respectively, seem to differ.
哮喘发病具有家族倾向，但哮喘症状的严重程度是否可遗传尚不清楚。
本研究旨在探讨遗传因素是否会影响哮喘严重程度的差异。
从丹麦双胞胎登记处选取21133名成年双胞胎作为样本，共有575名受试者（256对完整双胞胎和63名单胎双胞胎）在问卷调查中自述和/或其双胞胎兄弟姐妹有哮喘病史，对他们进行了临床检查。根据临床访谈对哮喘症状的严重程度进行分级，并测量气道损伤和过敏指标。
校正混杂因素后，遗传因素解释了总体哮喘症状严重程度差异的24%（10%-37%），P = 0.0004，而未共享环境占其余76%的差异。特定哮喘症状的严重程度也发现有显著的遗传成分；喘息为12%（3%-22%），P = 0.007，呼吸急促为17%（7%-27%），P = 0.0006，但胸部紧绷感和咳嗽没有。哮喘症状严重程度与鼻炎严重程度以及肺功能、气道炎症、气道反应性和过敏致敏的客观指标呈弱相关。
哮喘症状严重程度的个体差异在一定程度上受遗传因素影响，但环境因素解释了差异的主要部分。哮喘症状严重程度和客观测量的哮喘相关特征背后的遗传结构似乎有所不同。
