GENETIC SUSCEPTIBILITY LOCI IN GENOME-WIDE ASSOCIATION STUDY OF CLUSTER HEADACHE 123 6 Figure 1 Manhattan plot and reginal plots for the discovery analysis A) Manhattan plot showing the -log10 for individual SNP. Each marker was tested for association using an additive genetic model by logistic regression. The horizontal axis shows the chromosomal position and the vertical axis shows the significance of tested markers from logistic regression. The threshold for genome wide significance (p < 5 × 10–8) is indicated by a red dotted line. Markers that reach genome-wide significance are shown in blue. B-E) Regional Manhattan plots of the four genome-wide significant cluster headache loci, with +/- 600 kb windows. Each dot represents a SNP, the horizontal axis gives the genomic coordinate and the vertical axis the significance level (-log10 p- value). The index SNP for each locus is marked with a purple diamond and annotated with its corresponding location number (CRCh37/hg19). SNPs are colored based on their correlation (r2) with the labelled lead SNP according to the legend.The solid blue line shows the recombination rate from 1000 Genomes (EUR) data (right vertical axis). Gencode genes are shown. Figures were obtained from LocusZoom.23 (B) Locus: rs11579212; 1:222072819. (C) Locus: rs6541998; 2:112785237. (D) Locus: rs10184573; 2:200448253. (E) Locus: rs2499799; 6:96851676. SNP = single nucleotide polymorphisms
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