Figure 1.
A map of the region around the PTPN22 locus on chromosome 1p13 covering approximately 200,000 base pairs. The genes in the region are shown at the top of the figure. The blue and yellow haplotype block pattern was generated by looking at combinations of single nucleotide polymorphisms (SNP) alleles in 90 Caucasian subjects from the HapMap Project. Note that a limited number of patterns are observed, generating a kind of bar code for each subject. The lower portion of the figure shows a heat map in which the intensity of red color reflects the degree of correlation [linkage disequilibrium (LD) measured by D′] among SNPs across the region (indicated by tick marks). Note that widely separated SNPs are highly correlated. Two markers associated with type 1 diabetes (and other autoimmune diseases) are shown at the top. Marker rs2476601 is likely to be the causative variant in this region. Note that another marker (rs6679677) nearly a distance of 100 kb also strongly associates with diabetes. This emphasizes that it is difficult to assign the causative locus on the basis of associations alone, as discussed in the text.