Figure 7.

Comparison of PERK haplotype with GWAS risk allele. A GWAS for PSP identified a risk locus on chromosome 2 (rs7571971). The common, low risk allele at this locus is cytosine (C) and the PSP risk allele is thymine (T) [10]. Among individuals homozygous for C at this locus, all harbor PERK haplotype A or D in some combination. Individuals heterozygous (C/T) at this locus were heterozygous for haplotypes A, B, and/or D. Individuals homozygous for T at the GWAS risk locus were always homozygous for PERK haplotype B. This demonstrates that one of the two amino acid changes conferred by the B PERK haplotype that are not shared by the D haplotype may be responsible for the PSP risk evident on Chr. 2.