BibTex format

author = {Horikoshi, M and Pasquali, L and Wiltshire, S and Huyghe, JR and Mahajan, A and Asimit, JL and Ferreira, T and Locke, AE and Robertson, NR and Wang, X and Sim, X and Fujita, H and Hara, K and Young, R and Zhang, W and Choi, S and Chen, H and Kaur, I and Takeuchi, F and Fontanillas, P and Thuillier, D and Yengo, L and Below, JE and Tam, CH and Wu, Y and Abecasis, G and Altshuler, D and Bell, GI and Blangero, J and Burtt, NP and Duggirala, R and Florez, JC and Hanis, CL and Seielstad, M and Atzmon, G and Chan, JC and Ma, RC and Froguel, P and Wilson, JG and Bharadwaj, D and Dupuis, J and Meigs, JB and Cho, YS and Park, T and Kooner, JS and Chambers, JC and Saleheen, D and Kadowaki, T and Tai, ES and Mohlke, KL and Cox, NJ and Ferrer, J and Zeggini, E and Kato, N and Teo, YY and Boehnke, M and McCarthy, MI and Morris, AP},
doi = {hmg/ddw048},
journal = {Human Molecular Genetics},
pages = {2070--2081},
title = {Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms},
url = {},
volume = {25},
year = {2016}

RIS format (EndNote, RefMan)

AB - To gain insight into potential regulatory mechanisms through which the effects of variants at four established type 2 diabetes (T2D) susceptibility loci (CDKAL1, CDKN2A-B, IGF2BP2 and KCNQ1) are mediated, we undertook transancestral fine-mapping in 22 086 cases and 42 539 controls of East Asian, European, South Asian, African American and Mexican American descent. Through high-density imputation and conditional analyses, we identified seven distinct association signals at these four loci, each with allelic effects on T2D susceptibility that were homogenous across ancestry groups. By leveraging differences in the structure of linkage disequilibrium between diverse populations, and increased sample size, we localised the variants most likely to drive each distinct association signal. We demonstrated that integration of these genetic fine-mapping data with genomic annotation can highlight potential causal regulatory elements in T2D-relevant tissues. These analyses provide insight into the mechanisms through which T2D association signals are mediated, and suggest future routes to understanding the biology of specific disease susceptibility loci.
AU - Horikoshi,M
AU - Pasquali,L
AU - Wiltshire,S
AU - Huyghe,JR
AU - Mahajan,A
AU - Asimit,JL
AU - Ferreira,T
AU - Locke,AE
AU - Robertson,NR
AU - Wang,X
AU - Sim,X
AU - Fujita,H
AU - Hara,K
AU - Young,R
AU - Zhang,W
AU - Choi,S
AU - Chen,H
AU - Kaur,I
AU - Takeuchi,F
AU - Fontanillas,P
AU - Thuillier,D
AU - Yengo,L
AU - Below,JE
AU - Tam,CH
AU - Wu,Y
AU - Abecasis,G
AU - Altshuler,D
AU - Bell,GI
AU - Blangero,J
AU - Burtt,NP
AU - Duggirala,R
AU - Florez,JC
AU - Hanis,CL
AU - Seielstad,M
AU - Atzmon,G
AU - Chan,JC
AU - Ma,RC
AU - Froguel,P
AU - Wilson,JG
AU - Bharadwaj,D
AU - Dupuis,J
AU - Meigs,JB
AU - Cho,YS
AU - Park,T
AU - Kooner,JS
AU - Chambers,JC
AU - Saleheen,D
AU - Kadowaki,T
AU - Tai,ES
AU - Mohlke,KL
AU - Cox,NJ
AU - Ferrer,J
AU - Zeggini,E
AU - Kato,N
AU - Teo,YY
AU - Boehnke,M
AU - McCarthy,MI
AU - Morris,AP
DO - hmg/ddw048
EP - 2081
PY - 2016///
SN - 1460-2083
SP - 2070
TI - Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms
T2 - Human Molecular Genetics
UR -
UR -
VL - 25
ER -