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Sökning: WFRF:(van Deerlin Vivianna) > (2018) > Sex-specific geneti...

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FältnamnIndikatorerMetadata
00008171naa a2201105 4500
001oai:lup.lub.lu.se:0e1db61b-2f80-42f2-b6d6-149f2040384f
003SwePub
008180723s2018 | |||||||||||000 ||eng|
009oai:gup.ub.gu.se/269608
0247 a https://lup.lub.lu.se/record/0e1db61b-2f80-42f2-b6d6-149f2040384f2 URI
0247 a https://doi.org/10.1007/s00401-018-1881-42 DOI
0247 a https://gup.ub.gu.se/publication/2696082 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 Sex-specific genetic predictors of Alzheimer’s disease biomarkers
264 c 2018-07-02
264 1b 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 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 disease
653 a Amyloid
653 a APOE
653 a Cerebrospinal fluid biomarkers
653 a Neuropathology
653 a Sex difference
653 a Tau
7001 a Dumitrescu, Loganu Vanderbilt University4 aut
7001 a Barnes, Lisa L.u Rush University Medical Center Chicago4 aut
7001 a Thambisetty, Madhavu National Institute on Aging, United States4 aut
7001 a Kunkle, Brianu Case Western Reserve University4 aut
7001 a Gifford, Katherine A.u Vanderbilt University4 aut
7001 a Bush, William S.u Case Western Reserve University4 aut
7001 a Chibnik, Lori B.4 aut
7001 a Mukherjee, Shubhabratau University of Washington4 aut
7001 a de Jager, Philip L.u Broad Institute,Columbia University4 aut
7001 a Kukull, Walteru University of Washington4 aut
7001 a Huentelman, Matt4 aut
7001 a Crane, Paul K.u University of Washington4 aut
7001 a Resnick, Susan M.u National Institute on Aging, United States4 aut
7001 a Keene, C. Dirku University of Washington4 aut
7001 a Montine, Thomas J.u Stanford University School of Medicine4 aut
7001 a Schellenberg, Gerard4 aut
7001 a Haines, Jonathan L.u Case Western Reserve University4 aut
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 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 Larson, Eric B.u Kaiser Permanente Research Institute,University of Washington4 aut
7001 a Johnson, Sterling C.4 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 Del Aguila, Jorge L.u 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 Hassenstab, Jasonu Washington University in St. Louis4 aut
7001 a Fagan, Anne M.u Washington University in St. Louis4 aut
7001 a Riemenschneider, Matthiasu Saarland University4 aut
7001 a Petersen, Ronald C.u Mayo Clinic Minnesota4 aut
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 Chao, Michael J.u Icahn School of Medicine at Mount Sinai4 aut
7001 a van Deerlin, Vivianna M.u University of Pennsylvania4 aut
7001 a Lee, Virginia M.Y.u University of Pennsylvania4 aut
7001 a Shaw, Leslie M.u University of Pennsylvania4 aut
7001 a Trojanowski, John Q.u University of Pennsylvania4 aut
7001 a Peskind, Elaine R.u University of Washington4 aut
7001 a Li, Gailu VA Puget Sound Health Care System,University of Washington4 aut
7001 a Davis, Lea K.u Vanderbilt University4 aut
7001 a Sealock, Julia M.u Vanderbilt University4 aut
7001 a Cox, Nancy J.u Vanderbilt University4 aut
7001 a Weiner, Michael W.4 aut
7001 a Petersen, Ron4 aut
7001 a Aisen, Paul4 aut
7001 a Jack, Clifford4 aut
7001 a Jagust, William4 aut
7001 a Trojanowski, John4 aut
7001 a Beckett, Laurel4 aut
7001 a Goate, Alison M4 aut
7001 a Bennett, David A4 aut
7001 a Schneider, Julie A4 aut
7001 a Jefferson, Angela L4 aut
7001 a Hohman, Timothy J4 aut
7102 a Washington University in St. Louisb Vanderbilt University4 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 136:6, s. 857-872q 136:6<857-872x 0001-6322x 1432-0533
8564 u http://dx.doi.org/10.1007/s00401-018-1881-4y FULLTEXT
8564 u https://europepmc.org/articles/pmc6280657?pdf=render
8564 8u https://lup.lub.lu.se/record/0e1db61b-2f80-42f2-b6d6-149f2040384f
8564 8u https://doi.org/10.1007/s00401-018-1881-4
8564 8u https://gup.ub.gu.se/publication/269608

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