In the study presented here, rare changes potentially contributing to AD risk were found in genes implicated in the immune response, CD163L1 and CLECL1, and neuronal function, CTNNA1, GALR3, MIEF1, PLEKHG5 and THBS2. Variants were also identified in genes previously connected to both early and late-onset AD including AKAP9, INPP5D, SORL1 and UNC5C. Further investigation will be required to fully assess the cellular and molecular consequences of the alterations identified here as well as determine whether the novel genes found are involved in AD risk across larger datasets. This evidence concerns the gene THBS2 and Alzheimer disease.