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 4. Identifying the most prominent PICALM variations contributing to AD based on multiple-evidence summary. Finally, we integrated lines of evidence, including the effect size of association with AD risk, potential functionality, and the influences on AD feature endophenotype (CSF biomarkers or neurodegeneration), to identify the PICALM loci with high credibility of evidence to support their relationships with AD. Among the 11 tag variations in the Caucasian population, four (rs3851179, rs7480193, rs510566, and rs1237999) were highlighted by the overlapping sources of evidence.