气道阻塞性疾病的遗传决定因素：哮喘-慢性阻塞性肺疾病重叠的案例。
Genetic Determinants in Airways Obstructive Diseases: The Case of Asthma Chronic Obstructive Pulmonary Disease Overlap.
机构信息
Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA.
Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, MA, USA.
出版信息
Immunol Allergy Clin North Am. 2022 Aug;42(3):559-573. doi: 10.1016/j.iac.2022.03.003. Epub 2022 Jun 30.
Genome-wide association studies (GWAS) of asthma and chronic obstructive pulmonary disease (COPD) with ever-increasing sample sizes have found multiple genetic loci associated with either disease. However, there are few intersecting loci between asthma and COPD. GWAS specifically focused on asthma-COPD overlap (ACO) have been limited by smaller sample sizes and the lack of a consistent definition of ACO that has also hampered clinical and epidemiologic studies. Other genomic techniques, such as gene expression profiling, are feasible with smaller sample sizes. Genetic analyses of objective measures of airway reactivity and allergy/T2 inflammation biomarkers in COPD studies may be another strategy to overcome limitations in ACO definitions.
全基因组关联研究（GWAS）表明，哮喘和慢性阻塞性肺疾病（COPD）的样本量不断增加，与这两种疾病相关的多个遗传位点已经被发现。然而，哮喘和 COPD 之间的共同遗传位点很少。哮喘-COPD 重叠（ACO）的 GWAS 特别受到样本量较小和缺乏一致的 ACO 定义的限制，这也阻碍了临床和流行病学研究。其他基因组技术，如基因表达谱分析，在样本量较小的情况下也是可行的。在 COPD 研究中对气道反应性和过敏/T2 炎症生物标志物的客观测量进行遗传分析，可能是克服 ACO 定义局限性的另一种策略。
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