德国格赖夫斯瓦尔德大学2月25日发表公报说，该大学参与的一项研究新发现了5个影响肺功能的基因。这一成果将有助于理解慢性阻塞性肺病的致病机理并改善其治疗方法。
慢性阻塞性肺病包括慢性支气管炎和肺气肿等病症，其最重要的致病诱因是吸烟。据统计，40岁以上的成年人中每10人就有1人患有慢性阻塞性肺病。由于这种疾病呈现出一定程度的家族性，学界猜测这种疾病也可能与基因变异有关。
由格赖夫斯瓦尔德大学科学家参加的一个国际研究小组对超过2万人进行了检查，将人类基因组中不同区域的基因变异与受检者的肺功能测量值进行联系和比较分析，结果发现TNS1、GSTCD、HTR4、THSD4和AGER5个基因的变异与肺功能改变相关，并通过另一项基因组相关性研究证实了上述结果的有效性。
研究人员指出，这一成果对深入探寻慢性阻塞性肺病的致病机理和改善其疗法有着重要意义。该研究已发表在英国《自然—遗传学》（Nature Genetics）杂志上。
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《自然—遗传学》相关报道摘要（英文）
《自然—遗传学》发表论文摘要一（英文）
Lung function and airway diseases
Scott T Weiss1
Scott T. Weiss is at Harvard Medical School, Center for Genomic Medicine, and the Channing Laboratory, Brigham and Women’s Hospital, Boston, Massachusetts, USA.
Correspondence to: Scott T Weiss1 e-mail: scott.weiss@channing.harvard.edu
AbstractTwo studies report genome-wide association studies for lung function, using cross-sectional spirometric measurements in healthy individuals. They identify six genetic loci newly associated to natural variation in lung function, which may have implications for the related airway diseases of asthma and chronic obstructive pulmonary disease.
Nature Genetics 42, 45 - 52 (2010)
Published online: 13 December 2009 | doi:10.1038/ng.500
Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function
AbstractSpirometric 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 (FEV1) and its ratio to forced vital capacity (FEV1/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 FEV1/FVC (HHIP, GPR126, ADAM19, AGER-PPT2, FAM13A, PTCH1, PID1 and HTR4) and one locus associated with FEV1 (INTS12-GSTCD-NPNT) at or near genome-wide significance (P & 5 × 108) in the CHARGE Consortium dataset. Our findings may offer insights into pulmonary function and pathogenesis of chronic lung disease.
