Accepted for Publication: May 26, 2015.
Published Online: July 27, 2015. doi:10.1001/jamaneurol.2015.1424.
Study concept and design: Lee, Cheng, Mayeux.
Acquisition, analysis, or interpretation of data: All authors.
Drafting of the manuscript: Lee, Mayeux.
Critical revision of the manuscript for important intellectual content: All authors.
Statistical analysis: Lee, Cheng, Vardarajan, Bhangale.
Obtained funding: Mayeux.
Administrative, technical, or material support: Lee, Lantigua, Reyes-Dumeyer, Ortmann, Behrens, Medrano, Jiménez-Velázquez, Mayeux.
Study supervision: Lee, Mayeux.
Conflict of Interest Disclosures: Drs Ortmann, Graham, Bhangale, and Behrens reported being full-time employees of Genentech, Inc. No other disclosures were reported.
Funding/Support: This work was supported by grants R37-AG15473, P50-AG08702, and R01AG037212 from the National Institute on Aging, National Institutes of Health and grant R01-MH084995 from the National Institute of Mental Health.
Role of the Funder/Sponsor: Genentech contributed to the design, acquisition of sequencing and GWAS data, bioinformatics analysis of the sequence data, and review of the manuscript but did not play a role in management of the data, statistical genetics analysis, approval of the manuscript, and decision to submit the manuscript for publication.
Additional Contributions: Jessica Russo, BA, provided thorough examination of the candidate genes. The Columbia University team performed analyses of genotype-phenotype relations in the PSEN1 p.G206A carrier families and the GWAS of LOAD. Ms Russo was compensated for her work.