Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.

Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
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DOI:
10.1038/ng.941
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发表时间:
2011-09-25
期刊:
影响因子:
30.8
通讯作者:
--
中科院分区:
生物学1区
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--
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肺功能测量可反映呼吸健康状况并预测死亡率,并用于诊断慢性阻塞性肺病 (COPD)。我们在 48,201 名欧洲血统个体中测试了与 1 秒用力呼气量 (FEV1) 以及 FEV1 与用力肺活量 (FVC) 之比的全基因组关联,并对另外 46,411 名个体进行了顶级关联的跟踪。我们在 MFAP2、TGFB2、HDAC4、RARB、MECOM (EVI1)、SPATA9、ARMC2、NCR3、ZKSCAN3、CDC123、C10orf11、LRP1、CCDC38、MMP15、CFDP1 和 KCNE2 中或附近发现了与肺功能相关的新区域(组合 P<5×10−8)。这 16 个新基因座的鉴定可能有助于深入了解调节肺功能的分子机制,以及未来治疗缓解肺功能下降的分子靶点。
Pulmonary function measures reflect respiratory health and predict mortality, and are used in the diagnosis of chronic obstructive pulmonary disease (COPD). We tested genome-wide association with the forced expiratory volume in 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (FVC) in 48,201 individuals of European ancestry, with follow-up of top associations in up to an additional 46,411 individuals. We identified new regions showing association (combined P<5×10−8) with pulmonary function, in or near MFAP2, TGFB2, HDAC4, RARB, MECOM (EVI1), SPATA9, ARMC2, NCR3, ZKSCAN3, CDC123, C10orf11, LRP1, CCDC38, MMP15, CFDP1, and KCNE2. Identification of these 16 new loci may provide insight into the molecular mechanisms regulating pulmonary function and into molecular targets for future therapy to alleviate reduced lung function.
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