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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00007961naa a2200961 4500
001oai:lup.lub.lu.se:e0da950d-3e1b-428a-9f8b-09267d4f478e
003SwePub
008170317s2017 | |||||||||||000 ||eng|
009oai:gup.ub.gu.se/251980
0247 a https://lup.lub.lu.se/record/e0da950d-3e1b-428a-9f8b-09267d4f478e2 URI
0247 a https://doi.org/10.1007/s00401-017-1685-y2 DOI
0247 a https://gup.ub.gu.se/publication/2519802 URI
040 a (SwePub)lud (SwePub)gu
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 a Deming, Yuetivau Washington University in St. Louis4 aut
2451 0a Genome-wide association study identifies four novel loci associated with Alzheimer’s endophenotypes and disease modifiers
264 c 2017-02-28
264 1b Springer Science and Business Media LLC,c 2017
300 a 18 s.
520 a 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.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Neurovetenskaper0 (SwePub)301052 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Neurosciences0 (SwePub)301052 hsv//eng
653 a Alzheimer’s disease
653 a Cerebrospinal fluid biomarkers
653 a Endophenotype
653 a Genome-wide association study
7001 a Li, Zeranu Washington University in St. Louis4 aut
7001 a Kapoor, Manavu Icahn School of Medicine at Mount Sinai4 aut
7001 a Harari, Oscaru Washington University in St. Louis4 aut
7001 a Del-Aguila, Jorge L.u Washington University in St. Louis4 aut
7001 a Black, Kathleenu Washington University in St. Louis4 aut
7001 a Carrell, David S.u Washington University in St. Louis4 aut
7001 a Cai, Yefeiu Washington University in St. Louis4 aut
7001 a Fernandez, Maria Victoriau Washington University in St. Louis4 aut
7001 a Budde, Johnu Washington University in St. Louis4 aut
7001 a Ma, Shengmeiu Washington University in St. Louis4 aut
7001 a Saef, Benjaminu Washington University in St. Louis4 aut
7001 a Howells, Billu Washington University in St. Louis4 aut
7001 a Huang, Kuan linu Washington University in St. Louis4 aut
7001 a Bertelsen, Sarahu Icahn School of Medicine at Mount Sinai4 aut
7001 a Fagan, Anne Mu Washington University in St. Louis4 aut
7001 a Holtzman, David M.u Washington University in St. Louis4 aut
7001 a Morris, John Cu Washington University in St. Louis4 aut
7001 a Kim, Sungeunu Indiana University,State University of New York at Oswego4 aut
7001 a Saykin, Andrew J.u Indiana University4 aut
7001 a De Jager, Philip Lu Broad Institute,Harvard Medical School,Brigham and Women's Hospital / Harvard Medical School4 aut
7001 a Albert, Marilynu Johns Hopkins University School of Medicine4 aut
7001 a Moghekar, Abhayu Johns Hopkins University School of Medicine4 aut
7001 a O’Brien, Richardu Duke University4 aut
7001 a Riemenschneider, Matthiasu Saarland University4 aut
7001 a Petersen, Ronald Cu Mayo Clinic Minnesota4 aut
7001 a Blennow, Kaju Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry4 aut0 (Swepub:gu)xbleka
7001 a Zetterberg, Henriku Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry4 aut0 (Swepub:gu)xzethe
7001 a Minthon, Lennartu Lund University,Lunds universitet,Klinisk minnesforskning,Forskargrupper vid Lunds universitet,Clinical Memory Research,Lund University Research Groups4 aut0 (Swepub:lu)psyk-lmi
7001 a Van Deerlin, Vivianna Mu University of Pennsylvania4 aut
7001 a Lee, Virginia Man Yeeu University of Pennsylvania4 aut
7001 a Shaw, Leslie M.u University of Pennsylvania4 aut
7001 a Trojanowski, John Qu University of Pennsylvania4 aut
7001 a Schellenberg, Gerard D.u University of Pennsylvania4 aut
7001 a Haines, Jonathan L.u Vanderbilt University4 aut
7001 a Mayeux, Richardu Columbia University4 aut
7001 a Pericak-Vance, Margaret A.u University of Miami4 aut
7001 a Farrer, Lindsay A.u Boston University4 aut
7001 a Peskind, Elaine R.u VA Puget Sound Health Care System,University of Washington4 aut
7001 a Li, Geu University of Washington,VA Puget Sound Health Care System4 aut
7001 a Di Narzo, Antonio F.u Icahn School of Medicine at Mount Sinai4 aut
7001 a Kauwe, John S Ku Brigham Young University4 aut
7001 a Goate, Alison M.u Icahn School of Medicine at Mount Sinai4 aut
7001 a Cruchaga, Carlosu Washington University in St. Louis4 aut
7102 a Washington University in St. Louisb Icahn School of Medicine at Mount Sinai4 org
7102 a Alzheimer's Disease Neuroimaging Initiative
7102 a The Alzheimer Disease Genetics Consortium (ADGC)
7730 t Acta Neuropathologicad : Springer Science and Business Media LLCg 133:5, s. 839-856q 133:5<839-856x 0001-6322x 1432-0533
8564 u http://dx.doi.org/10.1007/s00401-017-1685-yy FULLTEXT
8564 u https://europepmc.org/articles/pmc5613285?pdf=render
8564 8u https://lup.lub.lu.se/record/e0da950d-3e1b-428a-9f8b-09267d4f478e
8564 8u https://doi.org/10.1007/s00401-017-1685-y
8564 8u https://gup.ub.gu.se/publication/251980

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