Epidemiology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Department of Health and Human Services, Research Triangle Park, North Carolina, USA.
Nat Genet. 2010 Jan;42(1):45-52. doi: 10.1038/ng.500. Epub 2009 Dec 13.
Spirometric measures of lung function are heritable traits that reflect respiratory health and predict morbidity and mortality. We meta-analyzed genome-wide association studies for two clinically important lung-function measures: forced expiratory volume in the first second (FEV(1)) and its ratio to forced vital capacity (FEV(1)/FVC), an indicator of airflow obstruction. This meta-analysis included 20,890 participants of European ancestry from four CHARGE Consortium studies: Atherosclerosis Risk in Communities, Cardiovascular Health Study, Framingham Heart Study and Rotterdam Study. We identified eight loci associated with FEV(1)/FVC (HHIP, GPR126, ADAM19, AGER-PPT2, FAM13A, PTCH1, PID1 and HTR4) and one locus associated with FEV(1) (INTS12-GSTCD-NPNT) at or near genome-wide significance (P < 5 x 10(-8)) in the CHARGE Consortium dataset. Our findings may offer insights into pulmonary function and pathogenesis of chronic lung disease.
肺功能的呼吸测量是遗传特征，反映呼吸健康，并可预测发病率和死亡率。我们对两项重要的临床肺功能测量值进行了全基因组关联研究：第一秒用力呼气量（FEV1）及其与用力肺活量（FEV1/FVC）的比值，这是气流阻塞的一个指标。这项荟萃分析包括来自四个 CHARGE 联盟研究的 20890 名欧洲血统参与者：社区动脉粥样硬化风险研究、心血管健康研究、弗雷明汉心脏研究和鹿特丹研究。我们在 CHARGE 联盟数据集内发现了与 FEV1/FVC（HHIP、GPR126、ADAM19、AGER-PPT2、FAM13A、PTCH1、PID1 和 HTR4）相关的 8 个位点，以及与 FEV1（INTS12-GSTCD-NPNT）相关的 1 个位点，这些位点在全基因组范围内达到显著关联（P < 5 x 10(-8)）。我们的发现可能为肺功能和慢性肺部疾病的发病机制提供了新的见解。
