Genome-wide association analysis identifies six new loci associated with forced vital capacity

全基因组关联分析鉴定出六个与用力肺活量相关的新基因位点

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作者：Loth,Daan W,Soler Artigas,María,Gharib,Sina A,Wain,Louise V,Franceschini,Nora,Koch,Beate,Pottinger,Tess D,Smith,Albert Vernon,Duan,Qing,Oldmeadow,Chris,Lee,Mi Kyeong,Strachan,David P,James,Alan L,Huffman,Jennifer E,Vitart,Veronique,Ramasamy,Adaikalavan,Wareham,Nicholas J,Kaprio,Jaakko,Wang,Xin-Qun,Trochet,Holly,Kähönen,Mika,Flexeder,Claudia,Albrecht,Eva,Lopez,Lorna M,de Jong,Kim,Thyagarajan,Bharat,Alves,Alexessander Couto,Enroth,Stefan,Omenaas,Ernst,Joshi,Peter K,Fall,Tove,Viñuela,Ana,Launer,Lenore J,Loehr,Laura R,Fornage,Myriam,Li,Guo,Wilk,Jemma B,Tang,Wenbo,Manichaikul,Ani,Lahousse,Lies,Harris,Tamara B,North,Kari E,Rudnicka,Alicja R,Hui,Jennie,Gu,Xiangjun,Lumley,Thomas,Wright,Alan F,Hastie,Nicholas D,Campbell,Susan,Kumar,Rajesh,Pin,Isabelle,Scott,Robert A,Pietiläinen,Kirsi H,Surakka,Ida,Liu,Yongmei,Holliday,Elizabeth G,Schulz,Holger,Heinrich,Joachim,Davies,Gail,Vonk,Judith M,Wojczynski,Mary,Pouta,Anneli,Johansson,Asa,Wild,Sarah H,Ingelsson,Erik,Rivadeneira,Fernando,Völzke,Henry,Hysi,Pirro G,Eiriksdottir,Gudny,Morrison,Alanna C,Rotter,Jerome I,Gao,Wei,Postma,Dirkje S,White,Wendy B,Rich,Stephen S,Hofman,Albert,Aspelund,Thor,Couper,David,Smith,Lewis J,Psaty,Bruce M,Lohman,Kurt,Burchard,Esteban G,Uitterlinden,André G,Garcia,Melissa,Joubert,Bonnie R,McArdle,Wendy L,Musk,A Bill,Hansel,Nadia,Heckbert,Susan R,Zgaga,Lina,van Meurs,Joyce B J,Navarro,Pau,Rudan,Igor,Oh,Yeon-Mok,Redline,Susan,Jarvis,Deborah L,Zhao,Jing Hua,Rantanen,Taina,O'Connor,George T,Ripatti,Samuli,Scott,Rodney J,Karrasch,Stefan,Grallert,Harald,Gaddis,Nathan C,Starr,John M,Wijmenga,Cisca,Minster,Ryan L,Lederer,David J,Pekkanen,Juha,Gyllensten,Ulf,Campbell,Harry,Morris,Andrew P,Gläser,Sven,Hammond,Christopher J,Burkart,Kristin M,Beilby,John,Kritchevsky,Stephen B,Gudnason,Vilmundur,Hancock,Dana B,Williams,O Dale,Polasek,Ozren,Zemunik,Tatijana,Kolcic,Ivana,Petrini,Marcy F,Wjst,Matthias,Kim,Woo Jin,Porteous,David J,Scotland,Generation,Smith,Blair H,Viljanen,Anne,Heliövaara,Markku,Attia,John R,Sayers,Ian,Hampel,Regina,Gieger,Christian,Deary,Ian J,Boezen,H Marike,Newman,Anne,Jarvelin,Marjo-Riitta,Wilson,James F,Lind,Lars,Stricker,Bruno H,Teumer,Alexander,Spector,Timothy D,Melén,Erik,Peters,Marjolein J,Lange,Leslie A,Barr,R Graham,Bracke,Ken R,Verhamme,Fien M,Sung,Joohon,Hiemstra,Pieter S,Cassano,Patricia A,Sood,Akshay,Hayward,Caroline,Dupuis,Josée,Hall,Ian P,Brusselle,Guy G,Tobin,Martin D,London,Stephanie J
期刊：Nature Genetics影响因子：29.000
时间：2014起止号：2014 Jul;46(7):669-77
doi：10.1038/ng.3011

Abstract

Forced vital capacity (FVC), a spirometric measure of pulmonary function, reflects lung volume and is used to diagnose and monitor lung diseases. We performed genome-wide association study meta-analysis of FVC in 52,253 individuals from 26 studies and followed up the top associations in 32,917 additional individuals of European ancestry. We found six new regions associated at genome-wide significance (P < 5 × 10(-8)) with FVC in or near EFEMP1, BMP6, MIR129-2-HSD17B12, PRDM11, WWOX and KCNJ2. Two loci previously associated with spirometric measures (GSTCD and PTCH1) were related to FVC. Newly implicated regions were followed up in samples from African-American, Korean, Chinese and Hispanic individuals. We detected transcripts for all six newly implicated genes in human lung tissue. The new loci may inform mechanisms involved in lung development and the pathogenesis of restrictive lung disease.

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