Figure 2.
The 13q12.12 Region and Its Association with High Myopia in Han Chinese
(A) Results of the GWAS and replication identify 13q12.12 as a risk locus. Plot of –log10 p values of 18 SNPs genotyped in the GWAS within a 200 kb region surrounding this locus at 13q12.12. The color of each SNP spot reflects its r2 value: The top SNP (rs9318086) changes from red to white as the r2 value decreases. Estimated recombination rates were adapted from the University of California at Santa Cruz Genome Browser. The small diamonds indicate the p values of the initial GWAS (upper panel). The lower panel shows the LD block of nine SNPs (p values less than 0.05 in our GWAS data) surrounding the 13q12.12 region.
(B) The p values of rs9318086 and rs1886970 were 1.91 × 10−16 and 2.31 × 10−14, respectively, after all four datasets composed of 3222 cases and 6311 controls were combined (black circle). Four additional SNPs (rs9510902, rs3794338, rs7325450 and rs7331047) in the same LD block with rs9318086 and rs1886970 were shown to have a similar association with high myopia; p values ranged from 5.46 × 10−11 to 8.68 × 10−16 after all four datasets composed of 3222 cases and 5642 controls were combined (669 controls from the GWAS were absent because no DNA was available at this stage) (red square). The linkage disequilibrium block structure was examined with the program Haploview (Vision 4.0). The D′ values and r2 values for all pairs of SNPs were calculated, and the haplotype blocks were estimated with the program Haploview.