Analysis of the ADSP data to examine the contribution to disease across dementia genes and clinically diagnosed AD identified rare pathogenic variants within ARSA, CSF1R and GRN, along with candidate variants in GRN and CHMP2B. A further independent casecontrol study provided evidence of association between variants in TREM2, APOE, ARSA, CSF1R, PSEN1 and MAPT and risk of AD [41]. This evidence concerns the gene PSEN1 and Alzheimer disease.