Figure 4

Organization of genomic region and localization of haplotype blocks situated between positions 150150-150355 kb in 7q36.1. a: A 205 kb part situated between positions 150150-150355 kb of the 7q36.1 genomic region (gray horizontal line at the top), along with the genes ABP1, HERG1 (KCNH2), NOS3 and ATG9B located here (gray boxes), is shown. Relative position on 7q36.1 (marked by dotted lines) of the region investigated in the present study (~76 kb of length in chr7:150225599-150302147 bp position) is represented by the upper horizontal black line and that of Huffaker et al. (~65 kb of length in chr7:150280464-150345679 bp position; see text for the reference) by the lower horizontal black line. Black circles (●) on the upper horizontal black line indicate the locations of four SNPs analyzed in the present study, and the rs numbers of SNPs are presented along the relevant arrows. Small vertical lines (∣) on the lower horizontal black line indicate the locations of seven SNPs analyzed in all cohorts studied by Huffaker et al. rs3800779 is the single common SNP investigated in both studies and showed the higher significance among six significant SNPs found in the study of Huffaker et al. and the unique significance among four SNPs analyzed in the present study. Black horizontal rectangle at the bottom shows the position on 7q36.1 (marked by dotted lines) of the copy number variation (CNV, Variation 3711) of ~125 kb of length located in this part of the genome between positions 150169754-150294630 bp and partly inserted into HERG1 (~21.5 kb from its 3'-end). Three out of four SNPs (except rs3800779) that composes the schizophrenia-associated haplotypes A-A-A-T/C-A-C-G identified in the present study are located within this CNV. b: Haplotype blocks defined between positions 150150-150355 kb in 7q36.1 genomic region in the CEU population of the International HapMap Project http://hapmap.ncbi.nlm.nih.gov are shown. As marked by dotted lines, the schizophrenia-associated A-A-A-T/C-A-C-G haplotypes identified in the present study extend across a number of defined haplotype blocks. ABP1, amiloride binding protein 1 gene; NOS3, nitric oxide synthase 3 (endothelial cell) gene; ATG9B, nitric oxide synthase 3 antisense gene; SNP, single nucleotide polymorphism; CNV, copy number variation.