Manhattan plot displaying SKAT-O association results.

Each point represents one of the 19,293 genes tested for the association with the spherical equivalent in the UK Biobank cohort (N = 50,893). The plot shows -log10 transformed p-values for each gene plotted against the chromosomal location. The red dashed line indicates the Bonferroni significance threshold (p −6). Regions are named with symbols of genes that were most strongly associated with refractive error.</p

Spherical equivalent distribution in UK Biobank cohort (N = 50,893).

The distribution of the spherical equivalent (x-axis) in the samples; the number of participants for each spherical equivalent bin is given in the y-axis. (PNG)</p

Characteristics of the study participants.

Characteristics of the study participants.</p

Sensitivity analyses results for the <i>SIX6</i> gene.

Y-axis shows the number of SIX6 variants included in gene-based analyses, testing associations with SPHE. The model was adjusted for age, sex and the best common variant within the same locus. The -log(p-values) from SKAT-O tests are displayed on X-axis. (PNG)</p

Sensitivity analyses results for the <i>CRX</i> gene.

Y-axis shows the number of CRX variants included in gene-based analyses, testing associations with SPHE. The model was adjusted for age, sex and the best common variant within the same locus. The -log(p-values) from SKAT-O tests are displayed on X-axis. (PNG)</p

Replication of four loci associated with refractive error using gene-based analyses performed in Beaver Dam (N = 1740) and CREAM Consortium dataset (N = 11,505).

Replication of four loci associated with refractive error using gene-based analyses performed in Beaver Dam (N = 1740) and CREAM Consortium dataset (N = 11,505).</p

Top eight gene associations with refractive error.

Top eight gene associations with refractive error.</p

Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

Lung function measures are used in the diagnosis of chronic obstructive pulmonary disease. In 38,199 European ancestry individuals, we studied genome-wide association of forced expiratory volume in one second (FEV1), forced vital capacity (FVC) and FEV1/FVC with 1000 Genomes Project (Phase 1) imputed genotypes and followed up top associations in 54,550 Europeans. We identify 14 novel loci (P<5x10-8) in or near ENSA, RNU5F-1, KCNS3, AK097794, ASTN2, LHX3, CCDC91, TBX3, TRIP11, RIN3, TEKT5, LTBP4, MN1, AP1S2, and two novel signals at known loci NPNT and GPR126, providing a basis for new understanding of the genetic determinants of these traits and pulmonary diseases in which they are altered