Genomic copy number analysis in Alzheimer's disease and mild cognitive impairment: An ADNI study

Andrew Saykin, Shanker Swaminathan, Sungeun Kim, Li Shen, Shannon L. Risacher, Tatiana Foroud, Nathan Pankratz, Steven G. Potkin, Matthew J. Huentelman, David W. Craig, Michael W. Weiner

Research output: Contribution to journalArticle

35 Citations (Scopus)

Abstract

Copy number variants (CNVs) are DNA sequence alterations, resulting in gains (duplications) and losses (deletions) of genomic segments. They often overlap genes and may play important roles in disease. Only one published study has examined CNVs in late-onset Alzheimer's disease (AD), and none have examined mild cognitive impairment (MCI). CNV calls were generated in 288 AD, 183 MCI, and 184 healthy control (HC) non-Hispanic Caucasian Alzheimer's Disease Neuroimaging Initiative participants. After quality control, 222 AD, 136 MCI, and 143 HC participants were entered into case/control association analyses, including candidate gene and whole genome approaches. Although no excess CNV burden was observed in cases (AD and/or MCI) relative to controls (HC), gene-based analyses revealed CNVs overlapping the candidate gene CHRFAM7A, as well as CSMD1, SLC35F2, HNRNPCL1, NRXN1, and ERBB4 regions, only in cases. Replication in larger samples is important, after which regions detected here may be promising targets for resequencing.

Original languageEnglish
Article number729478
JournalInternational Journal of Alzheimer's Disease
DOIs
StatePublished - 2011

Fingerprint

Alzheimer Disease
Overlapping Genes
Genetic Association Studies
Neuroimaging
Quality Control
Genes
Healthy Volunteers
Cognitive Dysfunction
Genome

ASJC Scopus subject areas

  • Clinical Neurology
  • Behavioral Neuroscience
  • Cognitive Neuroscience
  • Aging
  • Cellular and Molecular Neuroscience
  • Neurology

Cite this

Genomic copy number analysis in Alzheimer's disease and mild cognitive impairment : An ADNI study. / Saykin, Andrew; Swaminathan, Shanker; Kim, Sungeun; Shen, Li; Risacher, Shannon L.; Foroud, Tatiana; Pankratz, Nathan; Potkin, Steven G.; Huentelman, Matthew J.; Craig, David W.; Weiner, Michael W.

In: International Journal of Alzheimer's Disease, 2011.

Research output: Contribution to journalArticle

Saykin, Andrew ; Swaminathan, Shanker ; Kim, Sungeun ; Shen, Li ; Risacher, Shannon L. ; Foroud, Tatiana ; Pankratz, Nathan ; Potkin, Steven G. ; Huentelman, Matthew J. ; Craig, David W. ; Weiner, Michael W. / Genomic copy number analysis in Alzheimer's disease and mild cognitive impairment : An ADNI study. In: International Journal of Alzheimer's Disease. 2011.
@article{ccbdf06af6014538b15be1363001d796,
title = "Genomic copy number analysis in Alzheimer's disease and mild cognitive impairment: An ADNI study",
abstract = "Copy number variants (CNVs) are DNA sequence alterations, resulting in gains (duplications) and losses (deletions) of genomic segments. They often overlap genes and may play important roles in disease. Only one published study has examined CNVs in late-onset Alzheimer's disease (AD), and none have examined mild cognitive impairment (MCI). CNV calls were generated in 288 AD, 183 MCI, and 184 healthy control (HC) non-Hispanic Caucasian Alzheimer's Disease Neuroimaging Initiative participants. After quality control, 222 AD, 136 MCI, and 143 HC participants were entered into case/control association analyses, including candidate gene and whole genome approaches. Although no excess CNV burden was observed in cases (AD and/or MCI) relative to controls (HC), gene-based analyses revealed CNVs overlapping the candidate gene CHRFAM7A, as well as CSMD1, SLC35F2, HNRNPCL1, NRXN1, and ERBB4 regions, only in cases. Replication in larger samples is important, after which regions detected here may be promising targets for resequencing.",
author = "Andrew Saykin and Shanker Swaminathan and Sungeun Kim and Li Shen and Risacher, {Shannon L.} and Tatiana Foroud and Nathan Pankratz and Potkin, {Steven G.} and Huentelman, {Matthew J.} and Craig, {David W.} and Weiner, {Michael W.}",
year = "2011",
doi = "10.4061/2011/729478",
language = "English",
journal = "International Journal of Alzheimer's Disease",
issn = "2090-8024",
publisher = "Hindawi Publishing Corporation",

}

TY - JOUR

T1 - Genomic copy number analysis in Alzheimer's disease and mild cognitive impairment

T2 - An ADNI study

AU - Saykin, Andrew

AU - Swaminathan, Shanker

AU - Kim, Sungeun

AU - Shen, Li

AU - Risacher, Shannon L.

AU - Foroud, Tatiana

AU - Pankratz, Nathan

AU - Potkin, Steven G.

AU - Huentelman, Matthew J.

AU - Craig, David W.

AU - Weiner, Michael W.

PY - 2011

Y1 - 2011

N2 - Copy number variants (CNVs) are DNA sequence alterations, resulting in gains (duplications) and losses (deletions) of genomic segments. They often overlap genes and may play important roles in disease. Only one published study has examined CNVs in late-onset Alzheimer's disease (AD), and none have examined mild cognitive impairment (MCI). CNV calls were generated in 288 AD, 183 MCI, and 184 healthy control (HC) non-Hispanic Caucasian Alzheimer's Disease Neuroimaging Initiative participants. After quality control, 222 AD, 136 MCI, and 143 HC participants were entered into case/control association analyses, including candidate gene and whole genome approaches. Although no excess CNV burden was observed in cases (AD and/or MCI) relative to controls (HC), gene-based analyses revealed CNVs overlapping the candidate gene CHRFAM7A, as well as CSMD1, SLC35F2, HNRNPCL1, NRXN1, and ERBB4 regions, only in cases. Replication in larger samples is important, after which regions detected here may be promising targets for resequencing.

AB - Copy number variants (CNVs) are DNA sequence alterations, resulting in gains (duplications) and losses (deletions) of genomic segments. They often overlap genes and may play important roles in disease. Only one published study has examined CNVs in late-onset Alzheimer's disease (AD), and none have examined mild cognitive impairment (MCI). CNV calls were generated in 288 AD, 183 MCI, and 184 healthy control (HC) non-Hispanic Caucasian Alzheimer's Disease Neuroimaging Initiative participants. After quality control, 222 AD, 136 MCI, and 143 HC participants were entered into case/control association analyses, including candidate gene and whole genome approaches. Although no excess CNV burden was observed in cases (AD and/or MCI) relative to controls (HC), gene-based analyses revealed CNVs overlapping the candidate gene CHRFAM7A, as well as CSMD1, SLC35F2, HNRNPCL1, NRXN1, and ERBB4 regions, only in cases. Replication in larger samples is important, after which regions detected here may be promising targets for resequencing.

UR - http://www.scopus.com/inward/record.url?scp=80052686733&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=80052686733&partnerID=8YFLogxK

U2 - 10.4061/2011/729478

DO - 10.4061/2011/729478

M3 - Article

C2 - 21660214

AN - SCOPUS:80052686733

JO - International Journal of Alzheimer's Disease

JF - International Journal of Alzheimer's Disease

SN - 2090-8024

M1 - 729478

ER -