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P3‐097: SORL1 Variants Across Alzheimer’s Disease Cohorts in European Americans
Author(s) -
Fernández Maria Victoria,
Black Kathleen,
Carrell David,
Saef Ben,
Budde John,
Deming Yuetiva,
Howells Bill,
Del-Aguila Jorge L.,
Ma Shengmei,
Norton Joanne,
Chasse Rachel,
Morris John C.,
Goate Alison,
Cruchaga Carlos
Publication year - 2016
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2016.06.1756
Subject(s) - nonsynonymous substitution , exome , biology , genetics , genome wide association study , cohort , exome sequencing , genetic association , early onset alzheimer's disease , gene , alzheimer's disease , disease , single nucleotide polymorphism , genotype , medicine , genome , mutation
novel SNVs in ABCA7 (p-value1⁄4 2.6310) and EFTUD1 (p-value 1⁄4 4.9310), and a novel SNV downstream of BIN1 (p-value 1⁄4 5.4310). Conclusions: Conditional and joint analyses of IGAP Stage I data identified three novel loci, two in previously identified genes and one in a gene not previously identified as being associated with LOAD risk. Replication results with IGAP Stage II data were consistent with the initial findings.