Table 1.
Demographic factors of the GERA study population used in genome-wide association analyses of ankle injury.
Table 2.
Ankle injury phenotypes classified by ICD and/or CPT codes.
Fig 1.
Quantile-quantile plot for genome-wide association analysis of ankle injury.
The expected versus observed log transformed values for the 8,183,964 p-values from the meta-analysis are graphed. The y-axis shows the observed p-values and the x-axis shows the p-values expected by chance. The black dots represent the SNPs arranged by their observed p-values and the red line shows the expected trajectory if the SNPs had p-values expected by chance.
Fig 2.
Manhattan plot for genome-wide association analysis of ankle injury.
The -log10 p-values for association with ankle injury for SNPs from the meta-analysis are plotted by genomic position with chromosome number listed across the bottom. The y-axis shows the -log10 p-value for association with ankle injury. The blue line represents suggestive genome-wide significance (p<5x10-5) and the red line represents genome-wide significance (p<5x10-8).
Table 3.
Genome-wide association analyses for ankle injury.
Table 4.
Sensitivity analysis for association with ankle sprains/strains and ankle/foot derangements.
Table 5.
Genotype distributions for chr21:47156779:D and rs13286037.
Table 6.
Association statistics for chr21:47156779:D and rs13286037 with ankle injury in individual ancestry groups.
Fig 3.
Regional-association plot for chr21:47156779:D with ankle injury.
Tested SNPs are arranged by genomic position on chromosome 21 (x-axis) in a 600 kb window around the lead SNP chr21:47156779:D (purple diamond). The y-axis indicates -log10 p-values for association with ankle injury for each SNP. chr21:47156779:D is located in the intergenic region between COL18A1/SLC19A1 and PCBP3. The location of LINC00205 is not shown. The color of dots of the flanking SNPs indicates their linkage disequilibrium (R2) with the lead SNP as indicated by the heat map color key.
Fig 4.
Regional-association plot for rs13286037 with ankle injury.
Tested SNPs are arranged by genomic position on chromosome 9 (x-axis) in a 400 kb window around the lead SNP rs13286037 (purple diamond). The y-axis indicates -log10 p-values for association with ankle injury for each SNP. rs13286037 is located in the intron of NFIB. The color of dots of the flanking SNPs indicates their linkage disequilibrium (R2) with the lead SNP as indicated by the heat map color key. Red dot indicates rs35128680, which is tightly linked to rs13286037 (R2 = 0.99).