4.8 Article

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

期刊

NATURE GENETICS
卷 46, 期 7, 页码 669-677

出版社

NATURE PUBLISHING GROUP
DOI: 10.1038/ng.3011

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资金

  1. Biotechnology and Biological Sciences Research Council [BB/F019394/1] Funding Source: researchfish
  2. Chief Scientist Office [CZB/4/505, CZD/16/6/4, CZB/4/710, ETM/55] Funding Source: researchfish
  3. Medical Research Council [MR/K026992/1, MC_UU_12015/1, G0902313, MC_PC_U127561128, MC_PC_U127592696, G0700704, G1000861, MR/L016400/1, G0100266, MC_U106179471, G0701863, 1201677] Funding Source: researchfish
  4. National Institute for Health Research [NF-SI-0512-10135, SRF/01/010] Funding Source: researchfish
  5. BBSRC [BB/F019394/1] Funding Source: UKRI
  6. MRC [MR/L016400/1, MC_UU_12015/1, G0701863, MC_PC_U127592696, G0902313, MC_PC_U127561128, G1000861, G0700704, G0100266] Funding Source: UKRI
  7. Biotechnology and Biological Sciences Research Council [BB/F019394/1] Funding Source: Medline
  8. Intramural NIH HHS [Z01 ES043012-10] Funding Source: Medline
  9. Medical Research Council [MC_UU_12015/1, G0700704, G0902313, G0100266, MC_PC_U127592696, MR/L016400/1, MR/K026992/1, MC_U106179471, G0701863, MC_PC_U127561128, G1000861] Funding Source: Medline
  10. NCATS NIH HHS [UL1 TR000124, UL1 TR001079] Funding Source: Medline
  11. NHLBI NIH HHS [R01 HL117078, R01 HL077612, R01 HL105756, R01 HL103676] Funding Source: Medline
  12. NIA NIH HHS [U01 AG023746, U01 AG023749, R01 AG023629] Funding Source: Medline
  13. NIDDK NIH HHS [P30 DK063491] Funding Source: Medline
  14. NIMH NIH HHS [R25 MH083620] Funding Source: Medline
  15. Department of Health [SRF/01/010] Funding Source: Medline
  16. Chief Scientist Office [CZB/4/710, CZD/16/6/4, ETM/55, CZB/4/505] Funding Source: Medline

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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 x 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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