Genome-wide association analysis identifies six new loci associated with forced vital capacity Academic Article uri icon

Overview

MeSH Major

  • Genetic Loci
  • Genome, Human
  • Genome-Wide Association Study
  • Lung Diseases
  • Vital Capacity

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.

authors

publication date

  • January 2014

Research

keywords

  • Academic Article

Identity

Language

  • eng

PubMed Central ID

  • PMC4140093

Digital Object Identifier (DOI)

  • 10.1038/ng.3011

PubMed ID

  • 24929828

Additional Document Info

start page

  • 669

end page

  • 77

volume

  • 46

number

  • 7