In this study, we focused on the region spanning the ~100 kb 5′ flanking region, exon 1, and the 50 kb intron 1. Sequence comparison of this region between humans, non-human primates and rodents is shown on Figure 1b. Analysis of the LD matrix of the selected region in the HapMap CEU sample revealed that 108 SNPs are located in four major blocks of high LD (Figure 2a, Table 1). The first block spans ~10 kb with 28 SNPs, the second block spans ~23 kb with 22 SNPs, the third block spans ~20 kb with 15 SNPs and the fourth block spans intron 1 (~44 kb) with 42 SNPs. SNPs analyzed in related association studies (except for 118A>G that were studied in many studies) are indicated by their references (also see Discussion).
