Research Paper Volume 12, Issue 21 pp 21202—21219

Association of Alzheimer’s disease risk variants on the PICALM gene with PICALM expression, core biomarkers, and feature neurodegeneration


Figure 2. Summary results for the cross-sectional (2A) and longitudinal (2B) relationships of PICALM variations with CSF AD biomarkers and AD feature neurodegeneration, stratified by clinical diagnosis. After Bonferroni correction, rs510566 (G allele) was associated with lower CSF Aβ42, higher ptau, higher ptau/ Aβ42 ratio, and neurodegeneration in five feature regions, including HIPPO, PARAH, MT, PC and PRE (A). Longitudinally, rs10501610 (T allele) was associated with a slower rise in ptau and ptau/Aβ42 ratio. The same trends were also found for rs592297 and rs3851179, though the associations did not survive the Bonferroni correction. rs3851179 (G allele), rs592297 (C allele), and rs7480193 (G allele), were significantly associated with a faster rate of hippocampal atrophy. Similar trends were found for PRE and PC regions, but the p values failed to reach statistical significance after Bonferroni correction. (B) The “+” represent the beta-value is positive while “-” indicates the beta-value is negative.