Alzheimer's Disease Neuroimaging Initiative biomarkers as quantitative phenotypes: Genetics core aims, progress, and plans

作者：Saykin Andrew J^*; Shen Li; Foroud Tatiana M; Potkin Steven G; Swaminathan Shanker; Kim Sungeun; Risacher Shannon L; Nho Kwangsik; Huentelman Matthew J; Craig David W; Thompson Paul M; Stein Jason L; Moore Jason H; Farrer Lindsay A; Green Robert C; Bertram Lars; Jack Clifford R Jr; Weiner Michael W

来源：Alzheimer's and Dementia, 2010, 6(3): 265-273.

DOI：10.1016/j.jalz.2010.03.013

• Alzheimer's Disease Neuroimaging Initiative (ADNI)
• Alzheimer's disease
• Mild cognitive impairment (MCI)
• Genome-wide association studies (GWAS)
• Copy number variation (CNV
• Magnetic reconance imaging (MRI)
• Cerebrospinal fluid (CSF)

The role of the Alzheimer's Disease Neuroimaging, Initiative Genetics Core is to facilitate the investigation of genetic influences on disease onset and trajectory as reflected in structural. functional. and molecular imaging changes. fluid biomarkers and cognitive status Major goals include (I) blood sample processing. genotyping. and dissemination. (2) genome-wide association studies (GWAS) of longitudinal phenotypic data. and (3) providing a central resource. point of contact and planning group for genetics within the Alzheimer's Disease Neuroimaging Initiative Genome-wide array data have been publicly released and updated, and several neuroimaging GWAS have recently been reported examining baseline magnetic resonance imaging measures as quantitative phenotypes Other preliminary investigations include copy number variation in mild cognitive impairment and Alzheimer's disease and GWAS of baseline cerebrospinal fluid biomarkers and longitudinal changes on magnetic resonance imaging Blood collection for RNA studies is a new duection Genetic studies of longitudinal phenotypes hold promise for elucidating disease mechanisms and risk.

• 出版日期2010-5