Kelada Samir N P
Department of Genetics, University of North Carolina, Chapel Hill, North Carolina 27599
G3 (Bethesda). 2016 Sep 8;6(9):2857-65. doi: 10.1534/g3.116.032912.
Allergic asthma is common airway disease that is characterized in part by enhanced airway constriction in response to nonspecific stimuli. Genome-wide association studies have identified multiple loci associated with asthma risk in humans, but these studies have not accounted for gene-environment interactions, which are thought to be important factors in asthma. To identify quantitative trait loci (QTL) that regulate responses to a common human allergen, we applied a house dust mite mouse (HDM) model of allergic airway disease (AAD) to 146 incipient lines of the Collaborative Cross (CC) and the CC founder strains. We employed a longitudinal study design in which mice were phenotyped for response to the bronchoconstrictor methacholine both before and after HDM sensitization and challenge using whole body plethysmography (WBP). There was significant variation in methacholine responsiveness due to both strain and HDM treatment, as reflected by changes in the WBP parameter enhanced pause. We also found that distinct QTL regulate baseline [chromosome (Chr) 18] and post-HDM (Chr 19) methacholine responsiveness and that post-HDM airway responsiveness was correlated with other features of AAD. Finally, using invasive measurements of airway mechanics, we tested whether the Chr 19 QTL affects lung resistance per se using C57BL/6J mice and a consomic strain but found that QTL haplotype did not affect lung resistance. We conclude that aspects of baseline and allergen-induced methacholine responsiveness are associated with genetic variation, and that robust detection of airway resistance QTL in genetically diverse mice will be facilitated by direct measurement of airway mechanics.
过敏性哮喘是一种常见的气道疾病,其部分特征是对非特异性刺激的气道收缩增强。全基因组关联研究已经确定了多个与人类哮喘风险相关的基因座,但这些研究没有考虑基因-环境相互作用,而这被认为是哮喘的重要因素。为了确定调节对常见人类过敏原反应的数量性状基因座(QTL),我们将过敏性气道疾病(AAD)的屋尘螨小鼠(HDM)模型应用于协作杂交(CC)的146个起始品系和CC创始菌株。我们采用了纵向研究设计,其中使用全身体积描记法(WBP)对小鼠在HDM致敏和激发前后对支气管收缩剂乙酰甲胆碱的反应进行表型分析。由于品系和HDM处理,乙酰甲胆碱反应性存在显著差异,这通过WBP参数增强暂停的变化得以反映。我们还发现,不同的QTL调节基线[染色体(Chr)18]和HDM后(Chr 19)的乙酰甲胆碱反应性,并且HDM后气道反应性与AAD的其他特征相关。最后,使用气道力学的侵入性测量,我们使用C57BL/6J小鼠和一个代换系测试了Chr 19 QTL是否本身影响肺阻力,但发现QTL单倍型不影响肺阻力。我们得出结论,基线和过敏原诱导的乙酰甲胆碱反应性的方面与遗传变异有关,并且通过直接测量气道力学将有助于在基因多样化的小鼠中稳健检测气道阻力QTL。