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

Publication ,  Journal Article
Loth, DW; Soler Artigas, M; Gharib, SA; Wain, LV; Franceschini, N; Koch, B; Pottinger, TD; Smith, AV; Duan, Q; Oldmeadow, C; Lee, MK; Fall, T ...
Published in: Nat Genet
July 2014

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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Published In

Nat Genet

DOI

EISSN

1546-1718

Publication Date

July 2014

Volume

46

Issue

7

Start / End Page

669 / 677

Location

United States

Related Subject Headings

  • Vital Capacity
  • Spirometry
  • Respiratory Function Tests
  • Quantitative Trait Loci
  • Prognosis
  • Polymorphism, Single Nucleotide
  • Meta-Analysis as Topic
  • Lung Diseases
  • Humans
  • Genome-Wide Association Study
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Loth, D. W., Soler Artigas, M., Gharib, S. A., Wain, L. V., Franceschini, N., Koch, B., … London, S. J. (2014). Genome-wide association analysis identifies six new loci associated with forced vital capacity. Nat Genet, 46(7), 669–677. https://doi.org/10.1038/ng.3011
Loth, Daan W., María Soler Artigas, Sina A. Gharib, Louise V. Wain, Nora Franceschini, Beate Koch, Tess D. Pottinger, et al. “Genome-wide association analysis identifies six new loci associated with forced vital capacity.Nat Genet 46, no. 7 (July 2014): 669–77. https://doi.org/10.1038/ng.3011.
Loth DW, Soler Artigas M, Gharib SA, Wain LV, Franceschini N, Koch B, et al. Genome-wide association analysis identifies six new loci associated with forced vital capacity. Nat Genet. 2014 Jul;46(7):669–77.
Loth, Daan W., et al. “Genome-wide association analysis identifies six new loci associated with forced vital capacity.Nat Genet, vol. 46, no. 7, July 2014, pp. 669–77. Pubmed, doi:10.1038/ng.3011.
Loth DW, Soler Artigas M, Gharib SA, Wain LV, Franceschini N, Koch B, Pottinger TD, Smith AV, Duan Q, Oldmeadow C, Lee MK, Strachan DP, James AL, Huffman JE, Vitart V, Ramasamy A, Wareham NJ, Kaprio J, Wang X-Q, Trochet H, Kähönen M, Flexeder C, Albrecht E, Lopez LM, de Jong K, Thyagarajan B, Alves AC, Enroth S, Omenaas E, Joshi PK, Fall T, Viñuela A, Launer LJ, Loehr LR, Fornage M, Li G, Wilk JB, Tang W, Manichaikul A, Lahousse L, Harris TB, North KE, Rudnicka AR, Hui J, Gu X, Lumley T, Wright AF, Hastie ND, Campbell S, Kumar R, Pin I, Scott RA, Pietiläinen KH, Surakka I, Liu Y, Holliday EG, Schulz H, Heinrich J, Davies G, Vonk JM, Wojczynski M, Pouta A, Johansson A, Wild SH, Ingelsson E, Rivadeneira F, Völzke H, Hysi PG, Eiriksdottir G, Morrison AC, Rotter JI, Gao W, Postma DS, White WB, Rich SS, Hofman A, Aspelund T, Couper D, Smith LJ, Psaty BM, Lohman K, Burchard EG, Uitterlinden AG, Garcia M, Joubert BR, McArdle WL, Musk AB, Hansel N, Heckbert SR, Zgaga L, van Meurs JBJ, Navarro P, Rudan I, Oh Y-M, Redline S, Jarvis DL, Zhao JH, Rantanen T, O’Connor GT, Ripatti S, Scott RJ, Karrasch S, Grallert H, Gaddis NC, Starr JM, Wijmenga C, Minster RL, Lederer DJ, Pekkanen J, Gyllensten U, Campbell H, Morris AP, Gläser S, Hammond CJ, Burkart KM, Beilby J, Kritchevsky SB, Gudnason V, Hancock DB, Williams OD, Polasek O, Zemunik T, Kolcic I, Petrini MF, Wjst M, Kim WJ, Porteous DJ, Scotland G, Smith BH, Viljanen A, Heliövaara M, Attia JR, Sayers I, Hampel R, Gieger C, Deary IJ, Boezen HM, Newman A, Jarvelin M-R, Wilson JF, Lind L, Stricker BH, Teumer A, Spector TD, Melén E, Peters MJ, Lange LA, Barr RG, Bracke KR, Verhamme FM, Sung J, Hiemstra PS, Cassano PA, Sood A, Hayward C, Dupuis J, Hall IP, Brusselle GG, Tobin MD, London SJ. Genome-wide association analysis identifies six new loci associated with forced vital capacity. Nat Genet. 2014 Jul;46(7):669–677.

Published In

Nat Genet

DOI

EISSN

1546-1718

Publication Date

July 2014

Volume

46

Issue

7

Start / End Page

669 / 677

Location

United States

Related Subject Headings

  • Vital Capacity
  • Spirometry
  • Respiratory Function Tests
  • Quantitative Trait Loci
  • Prognosis
  • Polymorphism, Single Nucleotide
  • Meta-Analysis as Topic
  • Lung Diseases
  • Humans
  • Genome-Wide Association Study