We’re moving! Datasets in the NIAGADS database are being transitioned to the DSS database, click to learn more.


NG00033 - Identifying Rare Variants That Increase Risk For Alzheimer's Disease


We previously reported that families with a clinical history of LOAD in four or more individuals are enriched for genetic risk variants in known AD and frontotemporal dementia (FTD) genes, but some of these families do not carry pathogenic mutations in the known AD or FTD genes, suggesting that additional genes may contribute to LOAD risk. We ranked 868 LOAD families from the NIA-LOAD study based on number of affected individuals, number of generations affected, the number of affected and unaffected individuals with DNA available, the number of individuals with a definite or probable diagnosis of AD, early age at onset (AAO) and APOE genotype (discarding families in which APOE4 segregates with disease status). In the 14 selected families, there were at least four affected individuals per family and DNA was available for at least three of these individuals. We sequenced several affected individuals per family, prioritizing distantly related affected individuals with the earliest AAO. We also sequenced one unaffected individual in nine families and two unaffected individuals in one family. In total, we performed WES on 14 families of European American ancestry (Cruchaga et al., 2014: PMC4050701). BAM and Variant Call Format (VCF) files available.


Molecular Data Type




Submission date: 

37 NIA-LOAD Samples


Average- 124675

PI Information