(A) Identification of the OCA2/HERC2 eye color locus (15q11.2-q12) using POB GWAS. Horizontal line at P = 5 × 10−8 indicates genome-wide significance. Multiple significant SNP associations were also found in other known pigmentation loci in the top 1% of genotyped SNPs (TYR, TYRP1, SLC24A4, and SLC24A5). (B) Age-related macular degeneration POB GWAS. SNPs at the CFH locus (1q32) clearly reached genome-wide significance. SNP rs10922153 in CFHR5 adjacent to CFH was also strongly associated P = 6.9 × 10−9. SNP rs3750847 in ARMS2/HTRA1 (10q25-q26) yielded P = 6.4 × 10−8. (C) Pseudoexfoliation syndrome POB GWAS. Strong association of SNPs at the LOXL1 locus (15q22), where two SNPs (rs8041642, rs2165241) reached genome-wide significance.
