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

MS Artigas, DW Loth, LV Wain, SA Gharib, M Obeidat… - Nature …, 2011 - nature.com
MS Artigas, DW Loth, LV Wain, SA Gharib, M Obeidat, W Tang, G Zhai, JH Zhao, AV Smith
Nature genetics, 2011nature.com
Pulmonary function measures reflect respiratory health and are used in the diagnosis of
chronic obstructive pulmonary disease. We tested genome-wide association with forced
expiratory volume in 1 second and the ratio of forced expiratory volume in 1 second to forced
vital capacity in 48,201 individuals of European ancestry with follow up of the 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 …
Abstract
Pulmonary function measures reflect respiratory health and are used in the diagnosis of chronic obstructive pulmonary disease. We tested genome-wide association with forced expiratory volume in 1 second and the ratio of forced expiratory volume in 1 second to forced vital capacity in 48,201 individuals of European ancestry with follow up of the 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 (also known as 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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