Another example of a cisSNP which associates with human disease risk is rs8070723, the minor allele of which is associated with reduced risk of PD [32] and reduced brain MAPT levels (pCer = 3.36×10−7–7.02×10−69; pTCx = 9.03×10−4–8.61×10−44). Rs11012 minor allele, which confers increased risk of PD [34], showed association with lower brain LRRC37A4 levels (pCer = 1.69×10−33; pTCx = 3.378E−20). MAPT region variants were previously identified to associate with brain levels of MAPT and LRRC37A4 in neurologically normal subjects [27], [32], in a MAPT haplotype H1/H2-dependent manner [27]. Indeed, rs8070723 is in tight linkage disequilibrium with rs1052553 (r2 = 0.95, D′ = 0.97), the major allele of which marks the MAPT-H1 haplotype and associates with higher brain MAPT levels [24].
