Sökning: onr:"swepub:oai:lup.lub.lu.se:0e1db61b-2f80-42f2-b6d6-149f2040384f" > Sex-specific geneti...
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000 | 08171naa a2201105 4500 | |
001 | oai:lup.lub.lu.se:0e1db61b-2f80-42f2-b6d6-149f2040384f | |
003 | SwePub | |
008 | 180723s2018 | |||||||||||000 ||eng| | |
009 | oai:gup.ub.gu.se/269608 | |
024 | 7 | a https://lup.lub.lu.se/record/0e1db61b-2f80-42f2-b6d6-149f2040384f2 URI |
024 | 7 | a https://doi.org/10.1007/s00401-018-1881-42 DOI |
024 | 7 | a https://gup.ub.gu.se/publication/2696082 URI |
040 | a (SwePub)lud (SwePub)gu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a art2 swepub-publicationtype |
072 | 7 | a ref2 swepub-contenttype |
100 | 1 | a Deming, Yuetivau Washington University in St. Louis4 aut |
245 | 1 0 | a Sex-specific genetic predictors of Alzheimer’s disease biomarkers |
264 | c 2018-07-02 | |
264 | 1 | b Springer Science and Business Media LLC,c 2018 |
520 | a Cerebrospinal fluid (CSF) levels of amyloid-β 42 (Aβ42) and tau have been evaluated as endophenotypes in Alzheimer’s disease (AD) genetic studies. Although there are sex differences in AD risk, sex differences have not been evaluated in genetic studies of AD endophenotypes. We performed sex-stratified and sex interaction genetic analyses of CSF biomarkers to identify sex-specific associations. Data came from a previous genome-wide association study (GWAS) of CSF Aβ42 and tau (1527 males, 1509 females). We evaluated sex interactions at previous loci, performed sex-stratified GWAS to identify sex-specific associations, and evaluated sex interactions at sex-specific GWAS loci. We then evaluated sex-specific associations between prefrontal cortex (PFC) gene expression at relevant loci and autopsy measures of plaques and tangles using data from the Religious Orders Study and Rush Memory and Aging Project. In Aβ42, we observed sex interactions at one previous and one novel locus: rs316341 within SERPINB1 (p = 0.04) and rs13115400 near LINC00290 (p = 0.002). These loci showed stronger associations among females (β = − 0.03, p = 4.25 × 10−8; β = 0.03, p = 3.97 × 10−8) than males (β = − 0.02, p = 0.009; β = 0.01, p = 0.20). Higher levels of expression of SERPINB1, SERPINB6, and SERPINB9 in PFC was associated with higher levels of amyloidosis among females (corrected p values < 0.02) but not males (p > 0.38). In total tau, we observed a sex interaction at a previous locus, rs1393060 proximal to GMNC (p = 0.004), driven by a stronger association among females (β = 0.05, p = 4.57 × 10−10) compared to males (β = 0.02, p = 0.03). There was also a sex-specific association between rs1393060 and tangle density at autopsy (pfemale = 0.047; pmale = 0.96), and higher levels of expression of two genes within this locus were associated with lower tangle density among females (OSTN p = 0.006; CLDN16 p = 0.002) but not males (p ≥ 0.32). Results suggest a female-specific role for SERPINB1 in amyloidosis and for OSTN and CLDN16 in tau pathology. Sex-specific genetic analyses may improve understanding of AD’s genetic architecture. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Neurovetenskaper0 (SwePub)301052 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Neurosciences0 (SwePub)301052 hsv//eng |
653 | a Alzheimer disease | |
653 | a Amyloid | |
653 | a APOE | |
653 | a Cerebrospinal fluid biomarkers | |
653 | a Neuropathology | |
653 | a Sex difference | |
653 | a Tau | |
700 | 1 | a Dumitrescu, Loganu Vanderbilt University4 aut |
700 | 1 | a Barnes, Lisa L.u Rush University Medical Center Chicago4 aut |
700 | 1 | a Thambisetty, Madhavu National Institute on Aging, United States4 aut |
700 | 1 | a Kunkle, Brianu Case Western Reserve University4 aut |
700 | 1 | a Gifford, Katherine A.u Vanderbilt University4 aut |
700 | 1 | a Bush, William S.u Case Western Reserve University4 aut |
700 | 1 | a Chibnik, Lori B.4 aut |
700 | 1 | a Mukherjee, Shubhabratau University of Washington4 aut |
700 | 1 | a de Jager, Philip L.u Broad Institute,Columbia University4 aut |
700 | 1 | a Kukull, Walteru University of Washington4 aut |
700 | 1 | a Huentelman, Matt4 aut |
700 | 1 | a Crane, Paul K.u University of Washington4 aut |
700 | 1 | a Resnick, Susan M.u National Institute on Aging, United States4 aut |
700 | 1 | a Keene, C. Dirku University of Washington4 aut |
700 | 1 | a Montine, Thomas J.u Stanford University School of Medicine4 aut |
700 | 1 | a Schellenberg, Gerard4 aut |
700 | 1 | a Haines, Jonathan L.u Case Western Reserve University4 aut |
700 | 1 | 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 |
700 | 1 | 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 |
700 | 1 | a Larson, Eric B.u University of Washington,Kaiser Permanente Research Institute4 aut |
700 | 1 | a Johnson, Sterling C.4 aut |
700 | 1 | a Albert, Marilynu Johns Hopkins University School of Medicine4 aut |
700 | 1 | a Moghekar, Abhayu Johns Hopkins University School of Medicine4 aut |
700 | 1 | a Del Aguila, Jorge L.u Washington University in St. Louis4 aut |
700 | 1 | a Fernandez, Maria Victoriau Washington University in St. Louis4 aut |
700 | 1 | a Budde, Johnu Washington University in St. Louis4 aut |
700 | 1 | a Hassenstab, Jasonu Washington University in St. Louis4 aut |
700 | 1 | a Fagan, Anne M.u Washington University in St. Louis4 aut |
700 | 1 | a Riemenschneider, Matthiasu Saarland University4 aut |
700 | 1 | a Petersen, Ronald C.u Mayo Clinic Minnesota4 aut |
700 | 1 | 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 |
700 | 1 | a Chao, Michael J.u Icahn School of Medicine at Mount Sinai4 aut |
700 | 1 | a van Deerlin, Vivianna M.u University of Pennsylvania4 aut |
700 | 1 | a Lee, Virginia M.Y.u University of Pennsylvania4 aut |
700 | 1 | a Shaw, Leslie M.u University of Pennsylvania4 aut |
700 | 1 | a Trojanowski, John Q.u University of Pennsylvania4 aut |
700 | 1 | a Peskind, Elaine R.u University of Washington4 aut |
700 | 1 | a Li, Gailu University of Washington,VA Puget Sound Health Care System4 aut |
700 | 1 | a Davis, Lea K.u Vanderbilt University4 aut |
700 | 1 | a Sealock, Julia M.u Vanderbilt University4 aut |
700 | 1 | a Cox, Nancy J.u Vanderbilt University4 aut |
700 | 1 | a Weiner, Michael W.4 aut |
700 | 1 | a Petersen, Ron4 aut |
700 | 1 | a Aisen, Paul4 aut |
700 | 1 | a Jack, Clifford4 aut |
700 | 1 | a Jagust, William4 aut |
700 | 1 | a Trojanowski, John4 aut |
700 | 1 | a Beckett, Laurel4 aut |
700 | 1 | a Goate, Alison M4 aut |
700 | 1 | a Bennett, David A4 aut |
700 | 1 | a Schneider, Julie A4 aut |
700 | 1 | a Jefferson, Angela L4 aut |
700 | 1 | a Hohman, Timothy J4 aut |
710 | 2 | a Washington University in St. Louisb Vanderbilt University4 org |
710 | 2 | a Alzheimer's Disease Neuroimaging Initiative |
710 | 2 | a The Alzheimer Disease Genetics Consortium (ADGC) |
773 | 0 | t Acta Neuropathologicad : Springer Science and Business Media LLCg 136:6, s. 857-872q 136:6<857-872x 0001-6322x 1432-0533 |
856 | 4 | u http://dx.doi.org/10.1007/s00401-018-1881-4y FULLTEXT |
856 | 4 | u https://europepmc.org/articles/pmc6280657?pdf=render |
856 | 4 8 | u https://lup.lub.lu.se/record/0e1db61b-2f80-42f2-b6d6-149f2040384f |
856 | 4 8 | u https://doi.org/10.1007/s00401-018-1881-4 |
856 | 4 8 | u https://gup.ub.gu.se/publication/269608 |
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