Genome-wide association study identifies four novel loci associated with Alzheimer’s endophenotypes and disease modifiers

↓ Direkt till sidans innehåll
↓ Direkt till sidans sekundära innehåll (sidomenyn)

Tyck till om SwePub Sök här!

Search: WFRF:(Del Aguila Jorge L) > Schellenberg Gerard D > Genome-wide associa...

1 of 1
Previous record
Next record
To hitlist

Genome-wide association study identifies four novel loci associated with Alzheimer’s endophenotypes and disease modifiers

Deming, Yuetiva (author): Washington University in St. Louis

Li, Zeran (author): Washington University in St. Louis

Kapoor, Manav (author): Icahn School of Medicine at Mount Sinai

Harari, Oscar (author): Washington University in St. Louis

Del-Aguila, Jorge L. (author): Washington University in St. Louis

Black, Kathleen (author): Washington University in St. Louis

Carrell, David S. (author): Washington University in St. Louis

Cai, Yefei (author): Washington University in St. Louis

Fernandez, Maria Victoria (author): Washington University in St. Louis

Budde, John (author): Washington University in St. Louis

Ma, Shengmei (author): Washington University in St. Louis

Saef, Benjamin (author): Washington University in St. Louis

Howells, Bill (author): Washington University in St. Louis

Huang, Kuan lin (author): Washington University in St. Louis

Bertelsen, Sarah (author): Icahn School of Medicine at Mount Sinai

Fagan, Anne M (author): Washington University in St. Louis

Holtzman, David M. (author): Washington University in St. Louis

Morris, John C (author): Washington University in St. Louis

Kim, Sungeun (author): State University of New York at Oswego,Indiana University

Saykin, Andrew J. (author): Indiana University

De Jager, Philip L (author): Brigham and Women's Hospital / Harvard Medical School,Harvard Medical School,Broad Institute

Albert, Marilyn (author): Johns Hopkins University School of Medicine

Moghekar, Abhay (author): Johns Hopkins University School of Medicine

O’Brien, Richard (author): Duke University

Riemenschneider, Matthias (author): Saarland University

Petersen, Ronald C (author): Mayo Clinic Minnesota

Blennow, Kaj (author): Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry

Zetterberg, Henrik (author): Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry

Minthon, Lennart (author): Lund University,Lunds universitet,Klinisk minnesforskning,Forskargrupper vid Lunds universitet,Clinical Memory Research,Lund University Research Groups

Van Deerlin, Vivianna M (author): University of Pennsylvania

Lee, Virginia Man Yee (author): University of Pennsylvania

Shaw, Leslie M. (author): University of Pennsylvania

Trojanowski, John Q (author): University of Pennsylvania

Schellenberg, Gerard D. (author): University of Pennsylvania

Haines, Jonathan L. (author): Vanderbilt University

Mayeux, Richard (author): Columbia University

Pericak-Vance, Margaret A. (author): University of Miami

Farrer, Lindsay A. (author): Boston University

Peskind, Elaine R. (author): University of Washington,VA Puget Sound Health Care System

Li, Ge (author): VA Puget Sound Health Care System,University of Washington

Di Narzo, Antonio F. (author): Icahn School of Medicine at Mount Sinai

Kauwe, John S K (author): Brigham Young University

Goate, Alison M. (author): Icahn School of Medicine at Mount Sinai

Cruchaga, Carlos (author): Washington University in St. Louis

show less...

Washington University in St Louis Icahn School of Medicine at Mount Sinai (creator_code:org_t)

2017-02-28
2017
English 18 s.
In: Acta Neuropathologica. - : Springer Science and Business Media LLC. - 0001-6322 .- 1432-0533. ; 133:5, s. 839-856

Related links:: http://dx.doi.org/10...; show more...; https://europepmc.or...; https://lup.lub.lu.s...; https://doi.org/10.1...; https://gup.ub.gu.se...; show less...

Journal article (peer-reviewed)

Abstract Subject headings

More than 20 genetic loci have been associated with risk for Alzheimer’s disease (AD), but reported genome-wide significant loci do not account for all the estimated heritability and provide little information about underlying biological mechanisms. Genetic studies using intermediate quantitative traits such as biomarkers, or endophenotypes, benefit from increased statistical power to identify variants that may not pass the stringent multiple test correction in case–control studies. Endophenotypes also contain additional information helpful for identifying variants and genes associated with other aspects of disease, such as rate of progression or onset, and provide context to interpret the results from genome-wide association studies (GWAS). We conducted GWAS of amyloid beta (Aβ42), tau, and phosphorylated tau (ptau181) levels in cerebrospinal fluid (CSF) from 3146 participants across nine studies to identify novel variants associated with AD. Five genome-wide significant loci (two novel) were associated with ptau181, including loci that have also been associated with AD risk or brain-related phenotypes. Two novel loci associated with Aβ42 near GLIS1 on 1p32.3 (β = −0.059, P = 2.08 × 10−8) and within SERPINB1 on 6p25 (β = −0.025, P = 1.72 × 10−8) were also associated with AD risk (GLIS1: OR = 1.105, P = 3.43 × 10−2), disease progression (GLIS1: β = 0.277, P = 1.92 × 10−2), and age at onset (SERPINB1: β = 0.043, P = 4.62 × 10−3). Bioinformatics indicate that the intronic SERPINB1 variant (rs316341) affects expression of SERPINB1 in various tissues, including the hippocampus, suggesting that SERPINB1 influences AD through an Aβ-associated mechanism. Analyses of known AD risk loci suggest CLU and FERMT2 may influence CSF Aβ42 (P = 0.001 and P = 0.009, respectively) and the INPP5D locus may affect ptau181 levels (P = 0.009); larger studies are necessary to verify these results. Together the findings from this study can be used to inform future AD studies.

Find in a library

Acta Neuropathologica (Search for host publication in LIBRIS)

To the university's database

1 of 1
Previous record
Next record
To hitlist

Find more in SwePub

By the author/editor: Deming, Yuetiva; Li, Zeran; Kapoor, Manav; Harari, Oscar; Del-Aguila, Jorg ...; Black, Kathleen; show more...; Carrell, David S ...; Cai, Yefei; Fernandez, Maria ...; Budde, John; Ma, Shengmei; Saef, Benjamin; Howells, Bill; Huang, Kuan lin; Bertelsen, Sarah; Fagan, Anne M; Holtzman, David ...; Morris, John C; Kim, Sungeun; Saykin, Andrew J ...; De Jager, Philip ...; Albert, Marilyn; Moghekar, Abhay; O’Brien, Richard; Riemenschneider, ...; Petersen, Ronald ...; Blennow, Kaj; Zetterberg, Henr ...; Minthon, Lennart; Van Deerlin, Viv ...; Lee, Virginia Ma ...; Shaw, Leslie M.; Trojanowski, Joh ...; Schellenberg, Ge ...; Haines, Jonathan ...; Mayeux, Richard; Pericak-Vance, M ...; Farrer, Lindsay ...; Peskind, Elaine ...; Li, Ge; Di Narzo, Antoni ...; Kauwe, John S K; Goate, Alison M.; Cruchaga, Carlos; show less...

About the subject

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Neurology

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Neurosciences

Articles in the publication: Acta Neuropathol ...

By the university: Lund University; University of Gothenburg

Search outside SwePub

Extend your search to:: Google; Google Book Search; Google Scholar

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

LIBRIS.kb.se

Genome-wide association study identifies four novel loci associated with Alzheimer’s endophenotypes and disease modifiers

Subject headings

Keyword

Publication and Content Type

Find in a library

To the university's database

Find more in SwePub

Search outside SwePub