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@article{Jansen:2019:10.1038/s41588-018-0311-9,
author = {Jansen, IE and Savage, JE and Watanabe, K and Bryois, J and Williams, DM and Steinberg, S and Sealock, J and Karlsson, IK and Hagg, S and Athanasiu, L and Voyle, N and Proitsi, P and Witoelar, A and Stringer, S and Aarsland, D and Almdahl, IS and Andersen, F and Bergh, S and Bettella, F and Bjornsson, S and Braekhus, A and Brathen, G and de, Leeuw C and Desikan, RS and Djurovic, S and Dumitrescu, L and Fladby, T and Hohman, TJ and Jonsson, P and Kiddle, SJ and Rongve, A and Saltvedt, I and Sando, SB and Selbaek, G and Shoai, M and Skene, NG and Snaedal, J and Stordal, E and Ulstein, ID and Wang, Y and White, LR and Hardy, J and Hjerling-Leffler, J and Sullivan, PF and van, der Flier WM and Dobson, R and Davis, LK and Stefansson, H and Stefansson, K and Pedersen, NL and Ripke, S and Andreassen, OA and Posthuma, D},
doi = {10.1038/s41588-018-0311-9},
journal = {Nature Genetics},
pages = {404--413},
title = {Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk},
url = {http://dx.doi.org/10.1038/s41588-018-0311-9},
volume = {51},
year = {2019}
}

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TY  - JOUR
AB  - Alzheimer’s disease (AD) is highly heritable and recent studies have identified over 20 disease-associated genomic loci. Yet these only explain a small proportion of the genetic variance, indicating that undiscovered loci remain. Here, we performed a large genome-wide association study of clinically diagnosed AD and AD-by-proxy (71,880 cases, 383,378 controls). AD-by-proxy, based on parental diagnoses, showed strong genetic correlation with AD (rg = 0.81). Meta-analysis identified 29 risk loci, implicating 215 potential causative genes. Associated genes are strongly expressed in immune-related tissues and cell types (spleen, liver, and microglia). Gene-set analyses indicate biological mechanisms involved in lipid-related processes and degradation of amyloid precursor proteins. We show strong genetic correlations with multiple health-related outcomes, and Mendelian randomization results suggest a protective effect of cognitive ability on AD risk. These results are a step forward in identifying the genetic factors that contribute to AD risk and add novel insights into the neurobiology of AD.
AU  - Jansen,IE
AU  - Savage,JE
AU  - Watanabe,K
AU  - Bryois,J
AU  - Williams,DM
AU  - Steinberg,S
AU  - Sealock,J
AU  - Karlsson,IK
AU  - Hagg,S
AU  - Athanasiu,L
AU  - Voyle,N
AU  - Proitsi,P
AU  - Witoelar,A
AU  - Stringer,S
AU  - Aarsland,D
AU  - Almdahl,IS
AU  - Andersen,F
AU  - Bergh,S
AU  - Bettella,F
AU  - Bjornsson,S
AU  - Braekhus,A
AU  - Brathen,G
AU  - de,Leeuw C
AU  - Desikan,RS
AU  - Djurovic,S
AU  - Dumitrescu,L
AU  - Fladby,T
AU  - Hohman,TJ
AU  - Jonsson,P
AU  - Kiddle,SJ
AU  - Rongve,A
AU  - Saltvedt,I
AU  - Sando,SB
AU  - Selbaek,G
AU  - Shoai,M
AU  - Skene,NG
AU  - Snaedal,J
AU  - Stordal,E
AU  - Ulstein,ID
AU  - Wang,Y
AU  - White,LR
AU  - Hardy,J
AU  - Hjerling-Leffler,J
AU  - Sullivan,PF
AU  - van,der Flier WM
AU  - Dobson,R
AU  - Davis,LK
AU  - Stefansson,H
AU  - Stefansson,K
AU  - Pedersen,NL
AU  - Ripke,S
AU  - Andreassen,OA
AU  - Posthuma,D
DO  - 10.1038/s41588-018-0311-9
EP  - 413
PY  - 2019///
SN  - 1061-4036
SP  - 404
TI  - Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk
T2  - Nature Genetics
UR  - http://dx.doi.org/10.1038/s41588-018-0311-9
UR  - http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000459947200010&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
UR  - https://www.nature.com/articles/s41588-018-0311-9
UR  - http://hdl.handle.net/10044/1/81168
VL  - 51
ER  -

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