BibTex format
@article{Fuchsberger:2016:10.1038/nature18642,
author = {Fuchsberger, C and Flannick, J and Teslovich, TM and Mahajan, A and Agarwala, V and Gaulton, KJ and Ma, C and Fontanillas, P and Moutsianas, L and McCarthy, DJ and Rivas, MA and Perry, JR and Sim, X and Blackwell, TW and Robertson, NR and Rayner, NW and Cingolani, P and Locke, AE and Tajes, JF and Highland, HM and Dupuis, J and Chines, PS and Lindgren, CM and Hartl, C and Jackson, AU and Chen, H and Huyghe, JR and van, de Bunt M and Pearson, RD and Kumar, A and Müller-Nurasyid, M and Grarup, N and Stringham, HM and Gamazon, ER and Lee, J and Chen, Y and Scott, RA and Below, JE and Chen, P and Huang, J and Go, MJ and Stitzel, ML and Pasko, D and Parker, SC and Varga, TV and Green, T and Beer, NL and Day-Williams, AG and Ferreira, T and Fingerlin, T and Horikoshi, M and Hu, C and Huh, I and Ikram, MK and Kim, BJ and Kim, Y and Kim, YJ and Kwon, MS and Lee, J and Lee, S and Lin, KH and Maxwell, TJ and Nagai, Y and Wang, X and Welch, RP and Yoon, J and Zhang, W and Barzilai, N and Voight, },
doi = {10.1038/nature18642},
journal = {Nature},
pages = {41--47},
title = {The genetic architecture of type 2 diabetes.},
url = {http://dx.doi.org/10.1038/nature18642},
volume = {536},
year = {2016}
}
RIS format (EndNote, RefMan)
TY - JOUR
AB - The genetic architecture of common traits, including the number, frequency, and effect sizes of inherited variants that contribute to individual risk, has been long debated. Genome-wide association studies have identified scores of common variants associated with type 2 diabetes, but in aggregate, these explain only a fraction of the heritability of this disease. Here, to test the hypothesis that lower-frequency variants explain much of the remainder, the GoT2D and T2D-GENES consortia performed whole-genome sequencing in 2,657 European individuals with and without diabetes, and exome sequencing in 12,940 individuals from five ancestry groups. To increase statistical power, we expanded the sample size via genotyping and imputation in a further 111,548 subjects. Variants associated with type 2 diabetes after sequencing were overwhelmingly common and most fell within regions previously identified by genome-wide association studies. Comprehensive enumeration of sequence variation is necessary to identify functional alleles that provide important clues to disease pathophysiology, but large-scale sequencing does not support the idea that lower-frequency variants have a major role in predisposition to type 2 diabetes.
AU - Fuchsberger,C
AU - Flannick,J
AU - Teslovich,TM
AU - Mahajan,A
AU - Agarwala,V
AU - Gaulton,KJ
AU - Ma,C
AU - Fontanillas,P
AU - Moutsianas,L
AU - McCarthy,DJ
AU - Rivas,MA
AU - Perry,JR
AU - Sim,X
AU - Blackwell,TW
AU - Robertson,NR
AU - Rayner,NW
AU - Cingolani,P
AU - Locke,AE
AU - Tajes,JF
AU - Highland,HM
AU - Dupuis,J
AU - Chines,PS
AU - Lindgren,CM
AU - Hartl,C
AU - Jackson,AU
AU - Chen,H
AU - Huyghe,JR
AU - van,de Bunt M
AU - Pearson,RD
AU - Kumar,A
AU - Müller-Nurasyid,M
AU - Grarup,N
AU - Stringham,HM
AU - Gamazon,ER
AU - Lee,J
AU - Chen,Y
AU - Scott,RA
AU - Below,JE
AU - Chen,P
AU - Huang,J
AU - Go,MJ
AU - Stitzel,ML
AU - Pasko,D
AU - Parker,SC
AU - Varga,TV
AU - Green,T
AU - Beer,NL
AU - Day-Williams,AG
AU - Ferreira,T
AU - Fingerlin,T
AU - Horikoshi,M
AU - Hu,C
AU - Huh,I
AU - Ikram,MK
AU - Kim,BJ
AU - Kim,Y
AU - Kim,YJ
AU - Kwon,MS
AU - Lee,J
AU - Lee,S
AU - Lin,KH
AU - Maxwell,TJ
AU - Nagai,Y
AU - Wang,X
AU - Welch,RP
AU - Yoon,J
AU - Zhang,W
AU - Barzilai,N
AU - Voight,BF
AU - Han,BG
AU - Jenkinson,CP
AU - Kuulasmaa,T
AU - Kuusisto,J
AU - Manning,A
AU - Ng,MC
AU - Palmer,ND
AU - Balkau,B
AU - Stanáková,A
AU - Abboud,HE
AU - Boeing,H
AU - Giedraitis,V
AU - Prabhakaran,D
AU - Gottesman,O
AU - Scott,J
AU - Carey,J
AU - Kwan,P
AU - Grant,G
AU - Smith,JD
AU - Neale,BM
AU - Purcell,S
AU - Butterworth,AS
AU - Howson,JM
AU - Lee,HM
AU - Lu,Y
AU - Kwak,SH
AU - Zhao,W
AU - Danesh,J
AU - Lam,VK
AU - Park,KS
AU - Saleheen,D
AU - So,WY
AU - Tam,CH
AU - Afzal,U
AU - Aguilar,D
AU - Arya,R
AU - Aung,T
AU - Chan,E
AU - Navarro,C
AU - Cheng,CY
AU - Palli,D
AU - Correa,A
AU - Curran,JE
AU - Rybin,D
AU - Farook,VS
AU - Fowler,SP
AU - Freedman,BI
AU - Griswold,M
AU - Hale,DE
AU - Hicks,PJ
AU - Khor,CC
AU - Kumar,S
AU - Lehne,B
AU - Thuillier,D
AU - Lim,WY
AU - Liu,J
AU - van,der Schouw YT
AU - Loh,M
AU - Musani,SK
AU - Puppala,S
AU - Scott,WR
AU - Yengo,L
AU - Tan,ST
AU - Taylor,HA
AU - Thameem,F
AU - Wilson,G
AU - Wong,TY
AU - Njølstad,PR
AU - Levy,JC
AU - Mangino,M
AU - Bonnycastle,LL
AU - Schwarzmayr,T
AU - Fadista,J
AU - Surdulescu,GL
AU - Herder,C
AU - Groves,CJ
AU - Wieland,T
AU - Bork-Jensen,J
AU - Brandslund,I
AU - Christensen,C
AU - Koistinen,HA
AU - Doney,AS
AU - Kinnunen,L
AU - Esko,T
AU - Farmer,AJ
AU - Hakaste,L
AU - Hodgkiss,D
AU - Kravic,J
AU - Lyssenko,V
AU - Hollensted,M
AU - Jørgensen,ME
AU - Jørgensen,T
AU - Ladenvall,C
AU - Justesen,JM
AU - Käräjämäki,A
AU - Kriebel,J
AU - Rathmann,W
AU - Lannfelt,L
AU - Lauritzen,T
AU - Narisu,N
AU - Linneberg,A
AU - Melander,O
AU - Milani,L
AU - Neville,M
AU - Orho-Melander,M
AU - Qi,L
AU - Qi,Q
AU - Roden,M
AU - Rolandsson,O
AU - Swift,A
AU - Rosengren,AH
AU - Stirrups,K
AU - Wood,AR
AU - Mihailov,E
AU - Blancher,C
AU - Carneiro,MO
AU - Mag
DO - 10.1038/nature18642
EP - 47
PY - 2016///
SN - 0028-0836
SP - 41
TI - The genetic architecture of type 2 diabetes.
T2 - Nature
UR - http://dx.doi.org/10.1038/nature18642
UR - http://hdl.handle.net/10044/1/39454
VL - 536
ER -
