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@article{Mahajan:2018:10.1038/s41588-018-0241-6,
author = {Mahajan, A and Taliun, D and Thurner, M and Robertson, NR and Torres, JM and Rayner, NW and Payne, AJ and Steinthorsdottir, V and Scott, RA and Grarup, N and Cook, JP and Schmidt, EM and Wuttke, M and Sarnowski, C and Magill, R and Nano, J and Gieger, C and Trompet, S and Lecoeur, C and Preuss, MH and Prins, BP and Guo, X and Bielak, LF and Below, JE and Bowden, DW and Chambers, JC and Kim, YJ and Ng, MCY and Petty, LE and Sim, X and Zhang, W and Bennett, AJ and Bork-Jensen, J and Brummett, CM and Canouil, M and Kardt, K-UE and Fischer, K and Kardia, SLR and Kronenberg, F and Lall, K and Liu, C-T and Locke, AE and Luan, J and Ntalla, L and Nylander, V and Schoenherr, S and Schurmann, C and Yengo, L and Bottinger, EP and Brandslund, I and Christensen, C and Dedoussis, G and Florez, JC and Ford, I and France, OH and Frayling, TM and Giedraitis, V and Hackinger, S and Hattersley, AT and Herder, C and Ikram, MA and Ingelsson, M and Jorgensen, ME and Jorgensen, T and Kriebel, J and Kuusisto},
doi = {10.1038/s41588-018-0241-6},
journal = {Nature Genetics},
pages = {1505--1515},
title = {Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps},
url = {http://dx.doi.org/10.1038/s41588-018-0241-6},
volume = {50},
year = {2018}
}

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TY  - JOUR
AB  - We expanded GWAS discovery for type 2 diabetes (T2D) by combining data from 898,130 European-descent individuals (9% cases), after imputation to high-density reference panels. With these data, we (i) extend the inventory of T2D-risk variants (243 loci, 135 newly implicated in T2D predisposition, comprising 403 distinct association signals); (ii) enrich discovery of lower-frequency risk alleles (80 index variants with minor allele frequency <5%, 14 with estimated allelic odds ratio >2); (iii) substantially improve fine-mapping of causal variants (at 51 signals, one variant accounted for >80% posterior probability of association (PPA)); (iv) extend fine-mapping through integration of tissue-specific epigenomic information (islet regulatory annotations extend the number of variants with PPA >80% to 73); (v) highlight validated therapeutic targets (18 genes with associations attributable to coding variants); and (vi) demonstrate enhanced potential for clinical translation (genome-wide chip heritability explains 18% of T2D risk; individuals in the extremes of a T2D polygenic risk score differ more than ninefold in prevalence).
AU  - Mahajan,A
AU  - Taliun,D
AU  - Thurner,M
AU  - Robertson,NR
AU  - Torres,JM
AU  - Rayner,NW
AU  - Payne,AJ
AU  - Steinthorsdottir,V
AU  - Scott,RA
AU  - Grarup,N
AU  - Cook,JP
AU  - Schmidt,EM
AU  - Wuttke,M
AU  - Sarnowski,C
AU  - Magill,R
AU  - Nano,J
AU  - Gieger,C
AU  - Trompet,S
AU  - Lecoeur,C
AU  - Preuss,MH
AU  - Prins,BP
AU  - Guo,X
AU  - Bielak,LF
AU  - Below,JE
AU  - Bowden,DW
AU  - Chambers,JC
AU  - Kim,YJ
AU  - Ng,MCY
AU  - Petty,LE
AU  - Sim,X
AU  - Zhang,W
AU  - Bennett,AJ
AU  - Bork-Jensen,J
AU  - Brummett,CM
AU  - Canouil,M
AU  - Kardt,K-UE
AU  - Fischer,K
AU  - Kardia,SLR
AU  - Kronenberg,F
AU  - Lall,K
AU  - Liu,C-T
AU  - Locke,AE
AU  - Luan,J
AU  - Ntalla,L
AU  - Nylander,V
AU  - Schoenherr,S
AU  - Schurmann,C
AU  - Yengo,L
AU  - Bottinger,EP
AU  - Brandslund,I
AU  - Christensen,C
AU  - Dedoussis,G
AU  - Florez,JC
AU  - Ford,I
AU  - France,OH
AU  - Frayling,TM
AU  - Giedraitis,V
AU  - Hackinger,S
AU  - Hattersley,AT
AU  - Herder,C
AU  - Ikram,MA
AU  - Ingelsson,M
AU  - Jorgensen,ME
AU  - Jorgensen,T
AU  - Kriebel,J
AU  - Kuusisto,J
AU  - Ligthart,S
AU  - Lindgren,CM
AU  - Linneberg,A
AU  - Lyssenko,V
AU  - Mamakou,V
AU  - Meitinger,T
AU  - Mohlke,KL
AU  - Morris,AD
AU  - Nadkarni,G
AU  - Pankow,JS
AU  - Peters,A
AU  - Sattar,N
AU  - Stancakova,A
AU  - Strauch,K
AU  - Taylor,KD
AU  - Thorand,B
AU  - Thorleifsson,G
AU  - Thorsteinsdottir,U
AU  - Tuomilehto,J
AU  - Witte,DR
AU  - Dupuis,J
AU  - Peyser,PA
AU  - Zeggini,E
AU  - Loos,RJF
AU  - Froguel,P
AU  - Ingelsson,E
AU  - Lind,L
AU  - Groop,L
AU  - Laakso,M
AU  - Collins,FS
AU  - Jukema,JW
AU  - Palmer,CNA
AU  - Grallert,H
AU  - Metspalu,A
AU  - Dehghan,A
AU  - Koettgen,A
AU  - Abecasis,GR
AU  - Meigs,JB
AU  - Rotter,J
AU  - Marchini,J
AU  - Pedersen,O
AU  - Hansen,T
AU  - Langenberg,C
AU  - Wareham,NJ
AU  - Stefansson,K
AU  - Gloyn,AL
AU  - Morris,AP
AU  - Boehnke,M
AU  - McCarthy,M
DO  - 10.1038/s41588-018-0241-6
EP  - 1515
PY  - 2018///
SN  - 1061-4036
SP  - 1505
TI  - Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps
T2  - Nature Genetics
UR  - http://dx.doi.org/10.1038/s41588-018-0241-6
UR  - http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000448398000006&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
UR  - http://hdl.handle.net/10044/1/64303
VL  - 50
ER  -

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