Imperial College London

Dr Marika Kaakinen

Faculty of MedicineSchool of Public Health

Visiting Researcher
 
 
 
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Contact

 

+44 (0)20 7594 6537m.kaakinen Website

 
 
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Location

 

E301Burlington DanesHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@article{Scott:2017:10.2337/db16-1253,
author = {Scott, RA and Scott, LJ and Mägi, R and Marullo, L and Gaulton, KJ and Kaakinen, M and Pervjakova, N and Pers, TH and Johnson, AD and Eicher, JD and Jackson, AU and Ferreira, T and Lee, Y and Ma, C and Steinthorsdottir, V and Thorleifsson, G and Qi, L and Van, Zuydam NR and Mahajan, A and Chen, H and Almgren, P and Voight, BF and Grallert, H and Müller-Nurasyid, M and Ried, JS and Rayner, WN and Robertson, N and Karssen, LC and van, Leeuwen EM and Willems, SM and Fuchsberger, C and Kwan, P and Teslovich, TM and Chanda, P and Li, M and Lu, Y and Dina, C and Thuillier, D and Yengo, L and Jiang, L and Sparso, T and Kestler, HA and Chheda, H and Eisele, L and Gustafsson, S and Frånberg, M and Strawbridge, RJ and Benediktsson, R and Hreidarsson, AB and Kong, A and Sigurðsson, G and Kerrison, ND and Luan, J and Liang, L and Meitinger, T and Roden, M and Thorand, B and Esko, T and Mihailov, E and Fox, C and Liu, CT and Rybin, D and Isomaa, B and Lyssenko, V and Tuomi, T and Couper, DJ and Pan},
doi = {10.2337/db16-1253},
journal = {Diabetes},
pages = {2888--2902},
title = {An expanded genome-wide association study of Type 2 diabetes in Europeans},
url = {http://dx.doi.org/10.2337/db16-1253},
volume = {66},
year = {2017}
}

RIS format (EndNote, RefMan)

TY  - JOUR
AB - To characterise type 2 diabetes (T2D) associated variation across the allele frequency spectrum, we conducted a meta-analysis of genome-wide association data from 26,676 T2D cases and 132,532 controls of European ancestry after imputation using the 1000 Genomes multi-ethnic reference panel. Promising association signals were followed-up in additional data sets (of 14,545 or 7,397 T2D cases and 38,994 or 71,604 controls). We identified 13 novel T2D-associated loci (p<5×10(-8)), including variants near the GLP2R, GIP, and HLA-DQA1 genes. Our analysis brought the total number of independent T2D associations to 128 distinct signals at 113 loci. Despite substantially increased sample size and more complete coverage of low-frequency variation, all novel associations were driven by common SNVs. Credible sets of potentially causal variants were generally larger than those based on imputation with earlier reference panels, consistent with resolution of causal signals to common risk haplotypes. Stratification of T2D-associated loci based on T2D-related quantitative trait associations revealed tissue-specific enrichment of regulatory annotations in pancreatic islet enhancers for loci influencing insulin secretion, and in adipocytes, monocytes and hepatocytes for insulin action-associated loci. These findings highlight the predominant role played by common variants of modest effect and the diversity of biological mechanisms influencing T2D pathophysiology.
AU - Scott,RA
AU - Scott,LJ
AU - Mägi,R
AU - Marullo,L
AU - Gaulton,KJ
AU - Kaakinen,M
AU - Pervjakova,N
AU - Pers,TH
AU - Johnson,AD
AU - Eicher,JD
AU - Jackson,AU
AU - Ferreira,T
AU - Lee,Y
AU - Ma,C
AU - Steinthorsdottir,V
AU - Thorleifsson,G
AU - Qi,L
AU - Van,Zuydam NR
AU - Mahajan,A
AU - Chen,H
AU - Almgren,P
AU - Voight,BF
AU - Grallert,H
AU - Müller-Nurasyid,M
AU - Ried,JS
AU - Rayner,WN
AU - Robertson,N
AU - Karssen,LC
AU - van,Leeuwen EM
AU - Willems,SM
AU - Fuchsberger,C
AU - Kwan,P
AU - Teslovich,TM
AU - Chanda,P
AU - Li,M
AU - Lu,Y
AU - Dina,C
AU - Thuillier,D
AU - Yengo,L
AU - Jiang,L
AU - Sparso,T
AU - Kestler,HA
AU - Chheda,H
AU - Eisele,L
AU - Gustafsson,S
AU - Frånberg,M
AU - Strawbridge,RJ
AU - Benediktsson,R
AU - Hreidarsson,AB
AU - Kong,A
AU - Sigurðsson,G
AU - Kerrison,ND
AU - Luan,J
AU - Liang,L
AU - Meitinger,T
AU - Roden,M
AU - Thorand,B
AU - Esko,T
AU - Mihailov,E
AU - Fox,C
AU - Liu,CT
AU - Rybin,D
AU - Isomaa,B
AU - Lyssenko,V
AU - Tuomi,T
AU - Couper,DJ
AU - Pankow,JS
AU - Grarup,N
AU - Have,CT
AU - Jørgensen,ME
AU - Jørgensen,T
AU - Linneberg,A
AU - Cornelis,MC
AU - van,Dam RM
AU - Hunter,DJ
AU - Kraft,P
AU - Sun,Q
AU - Edkins,S
AU - Owen,KR
AU - Perry,JR
AU - Wood,AR
AU - Zeggini,E
AU - Tajes-Fernandes,J
AU - Abecasis,GR
AU - Bonnycastle,LL
AU - Chines,PS
AU - Stringham,HM
AU - Koistinen,HA
AU - Kinnunen,L
AU - Sennblad,B
AU - Mühleisen,TW
AU - Nöthen,MM
AU - Pechlivanis,S
AU - Baldassarre,D
AU - Gertow,K
AU - Humphries,SE
AU - Tremoli,E
AU - Klopp,N
AU - Meyer,J
AU - Steinbach,G
AU - Wennauer,R
AU - Eriksson,JG
AU - Mnnistö,S
AU - Peltonen,L
AU - Tikkanen,E
AU - Charpentier,G
AU - Eury,E
AU - Lobbens,S
AU - Gigante,B
AU - Leander,K
AU - McLeod,O
AU - Bottinger,EP
AU - Gottesman,O
AU - Ruderfer,D
AU - Blüher,M
AU - Kovacs,P
AU - Tonjes,A
AU - Maruthur,NM
AU - Scapoli,C
AU - Erbel,R
AU - Jöckel,KH
AU - Moebus,S
AU - de,Faire U
AU - Hamsten,A
AU - Stumvoll,M
AU - Deloukas,P
AU - Donnelly,PJ
AU - Frayling,TM
AU - Hattersley,AT
AU - Ripatti,S
AU - Salomaa,V
AU - Pedersen,NL
AU - Boehm,BO
AU - Bergman,RN
AU - Collins,FS
AU - Mohlke,KL
AU - Tuomilehto,J
AU - Hansen,T
AU - Pedersen,O
AU - Barroso,I
AU - Lannfelt,L
AU - Ingelsson,E
AU - Lind,L
AU - Lindgren,CM
AU - Cauchi,S
AU - Froguel,P
AU - Loos,RJ
AU - Balkau,B
AU - Boeing,H
AU - Franks,PW
AU - Gurrea,AB
AU - Palli,D
AU - van,der Schouw YT
AU - Altshuler,D
AU - Groop,LC
AU - Langenberg,C
AU - Wareham,NJ
AU - Sijbrands,E
AU - van,Duijn CM
AU - Florez,JC
AU - Meigs,JB
AU - Boerwinkle,E
AU - Gieger,C
AU - Strauch,K
AU - Metspalu,A
AU - Morris,AD
AU - Palmer,CN
AU - Hu,FB
AU - Thorsteinsdottir,U
AU - Stefansson,K
AU - Dupuis,J
AU - Morris,AP
AU - Boehnke,M
AU - McCarthy,MI P
DO - 10.2337/db16-1253
EP - 2902
PY - 2017///
SN - 0012-1797
SP - 2888
TI - An expanded genome-wide association study of Type 2 diabetes in Europeans
T2 - Diabetes
UR - http://dx.doi.org/10.2337/db16-1253
UR - https://diabetes.diabetesjournals.org/content/66/11/2888
UR - http://hdl.handle.net/10044/1/49274
VL - 66
ER -