Premium
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.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom