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PMID |
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TITLE |
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Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. |
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ABSTRACT |
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Genome-wide association studies and candidate gene studies in ulcerative colitis have identified 18 susceptibility loci. We conducted a meta-analysis of six ulcerative colitis genome-wide association study datasets, comprising 6,687 cases and 19,718 controls, and followed up the top association signals in 9,628 cases and 12,917 controls. We identified 29 additional risk loci (P < 5 × 10(-8)), increasing the number of ulcerative colitis-associated loci to 47. After annotating associated regions using GRAIL, expression quantitative trait loci data and correlations with non-synonymous SNPs, we identified many candidate genes that provide potentially important insights into disease pathogenesis, including IL1R2, IL8RA-IL8RB, IL7R, IL12B, DAP, PRDM1, JAK2, IRF5, GNA12 and LSP1. The total number of confirmed inflammatory bowel disease risk loci is now 99, including a minimum of 28 shared association signals between Crohn's disease and ulcerative colitis. |
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DATE PUBLISHED |
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HISTORY |
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PUBSTATUS |
PUBSTATUSDATE |
received |
2010/09/15 |
accepted |
2011/01/14 |
aheadofprint |
2011/02/06 |
entrez |
2011/02/08 06:00 |
pubmed |
2011/02/08 06:00 |
medline |
2011/04/20 06:00 |
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AUTHORS |
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NAME |
COLLECTIVENAME |
LASTNAME |
FORENAME |
INITIALS |
AFFILIATION |
AFFILIATIONINFO |
Anderson CA |
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Anderson |
Carl A |
CA |
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Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK. |
Boucher G |
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Boucher |
Gabrielle |
G |
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Lees CW |
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Lees |
Charlie W |
CW |
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Franke A |
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Franke |
Andre |
A |
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D'Amato M |
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D'Amato |
Mauro |
M |
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Taylor KD |
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Taylor |
Kent D |
KD |
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Lee JC |
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Lee |
James C |
JC |
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Goyette P |
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Goyette |
Philippe |
P |
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Imielinski M |
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Imielinski |
Marcin |
M |
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Latiano A |
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Latiano |
Anna |
A |
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Lagacé C |
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Lagacé |
Caroline |
C |
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Scott R |
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Scott |
Regan |
R |
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Amininejad L |
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Amininejad |
Leila |
L |
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Bumpstead S |
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Bumpstead |
Suzannah |
S |
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Baidoo L |
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Baidoo |
Leonard |
L |
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Baldassano RN |
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Baldassano |
Robert N |
RN |
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Barclay M |
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Barclay |
Murray |
M |
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Bayless TM |
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Bayless |
Theodore M |
TM |
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Brand S |
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Brand |
Stephan |
S |
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Büning C |
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Büning |
Carsten |
C |
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Colombel JF |
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Colombel |
Jean-Frédéric |
JF |
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Denson LA |
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Denson |
Lee A |
LA |
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De Vos M |
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De Vos |
Martine |
M |
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Dubinsky M |
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Dubinsky |
Marla |
M |
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Edwards C |
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Edwards |
Cathryn |
C |
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Ellinghaus D |
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Ellinghaus |
David |
D |
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Fehrmann RS |
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Fehrmann |
Rudolf S N |
RS |
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Floyd JA |
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Floyd |
James A B |
JA |
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Florin T |
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Florin |
Timothy |
T |
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Franchimont D |
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Franchimont |
Denis |
D |
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Franke L |
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Franke |
Lude |
L |
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Georges M |
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Georges |
Michel |
M |
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Glas J |
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Glas |
Jürgen |
J |
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Glazer NL |
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Glazer |
Nicole L |
NL |
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Guthery SL |
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Guthery |
Stephen L |
SL |
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Haritunians T |
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Haritunians |
Talin |
T |
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Hayward NK |
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Hayward |
Nicholas K |
NK |
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Hugot JP |
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Hugot |
Jean-Pierre |
JP |
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Jobin G |
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Jobin |
Gilles |
G |
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Laukens D |
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Laukens |
Debby |
D |
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Lawrance I |
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Lawrance |
Ian |
I |
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Lémann M |
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Lémann |
Marc |
M |
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Levine A |
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Levine |
Arie |
A |
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Libioulle C |
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Libioulle |
Cecile |
C |
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Louis E |
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Louis |
Edouard |
E |
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McGovern DP |
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McGovern |
Dermot P |
DP |
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Milla M |
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Milla |
Monica |
M |
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Montgomery GW |
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Montgomery |
Grant W |
GW |
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Morley KI |
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Morley |
Katherine I |
KI |
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Mowat C |
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Mowat |
Craig |
C |
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Ng A |
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Ng |
Aylwin |
A |
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Newman W |
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Newman |
William |
W |
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Ophoff RA |
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Ophoff |
Roel A |
RA |
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Papi L |
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Papi |
Laura |
L |
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Palmieri O |
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Palmieri |
Orazio |
O |
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Peyrin-Biroulet L |
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Peyrin-Biroulet |
Laurent |
L |
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Panés J |
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Panés |
Julián |
J |
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Phillips A |
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Phillips |
Anne |
A |
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Prescott NJ |
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Prescott |
Natalie J |
NJ |
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Proctor DD |
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Proctor |
Deborah D |
DD |
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Roberts R |
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Roberts |
Rebecca |
R |
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Russell R |
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Russell |
Richard |
R |
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Rutgeerts P |
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Rutgeerts |
Paul |
P |
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Sanderson J |
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Sanderson |
Jeremy |
J |
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Sans M |
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Sans |
Miquel |
M |
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Schumm P |
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Schumm |
Philip |
P |
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Seibold F |
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Seibold |
Frank |
F |
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Sharma Y |
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Sharma |
Yashoda |
Y |
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Simms LA |
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Simms |
Lisa A |
LA |
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Seielstad M |
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Seielstad |
Mark |
M |
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Steinhart AH |
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Steinhart |
A Hillary |
AH |
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Targan SR |
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Targan |
Stephan R |
SR |
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van den Berg LH |
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van den Berg |
Leonard H |
LH |
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Vatn M |
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Vatn |
Morten |
M |
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Verspaget H |
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Verspaget |
Hein |
H |
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Walters T |
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Walters |
Thomas |
T |
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Wijmenga C |
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Wijmenga |
Cisca |
C |
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Wilson DC |
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Wilson |
David C |
DC |
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Westra HJ |
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Westra |
Harm-Jan |
HJ |
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Xavier RJ |
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Xavier |
Ramnik J |
RJ |
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Zhao ZZ |
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Zhao |
Zhen Z |
ZZ |
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Ponsioen CY |
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Ponsioen |
Cyriel Y |
CY |
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Andersen V |
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Andersen |
Vibeke |
V |
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Torkvist L |
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Torkvist |
Leif |
L |
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Gazouli M |
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Gazouli |
Maria |
M |
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Anagnou NP |
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Anagnou |
Nicholas P |
NP |
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Karlsen TH |
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Karlsen |
Tom H |
TH |
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Kupcinskas L |
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Kupcinskas |
Limas |
L |
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Sventoraityte J |
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Sventoraityte |
Jurgita |
J |
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Mansfield JC |
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Mansfield |
John C |
JC |
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Kugathasan S |
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Kugathasan |
Subra |
S |
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Silverberg MS |
|
Silverberg |
Mark S |
MS |
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Halfvarson J |
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Halfvarson |
Jonas |
J |
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Rotter JI |
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Rotter |
Jerome I |
JI |
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Mathew CG |
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Mathew |
Christopher G |
CG |
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Griffiths AM |
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Griffiths |
Anne M |
AM |
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Gearry R |
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Gearry |
Richard |
R |
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Ahmad T |
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Ahmad |
Tariq |
T |
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Brant SR |
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Brant |
Steven R |
SR |
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Chamaillard M |
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Chamaillard |
Mathias |
M |
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Satsangi J |
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Satsangi |
Jack |
J |
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Cho JH |
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Cho |
Judy H |
JH |
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Schreiber S |
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Schreiber |
Stefan |
S |
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Daly MJ |
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Daly |
Mark J |
MJ |
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Barrett JC |
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Barrett |
Jeffrey C |
JC |
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Parkes M |
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Parkes |
Miles |
M |
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Annese V |
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Annese |
Vito |
V |
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Hakonarson H |
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Hakonarson |
Hakon |
H |
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Radford-Smith G |
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Radford-Smith |
Graham |
G |
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Duerr RH |
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Duerr |
Richard H |
RH |
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Vermeire S |
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Vermeire |
Séverine |
S |
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Weersma RK |
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Weersma |
Rinse K |
RK |
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Rioux JD |
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Rioux |
John D |
JD |
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INVESTIGATORS |
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JOURNAL |
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VOLUME: 43 |
ISSUE: 3 |
TITLE: Nature genetics |
ISOABBREVIATION: Nat. Genet. |
YEAR: 2011 |
MONTH: Mar |
DAY: |
MEDLINEDATE: |
SEASON: |
CITEDMEDIUM: Internet |
ISSN: 1546-1718 |
ISSNTYPE: Electronic |
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MEDLINE JOURNAL |
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MEDLINETA: Nat Genet |
COUNTRY: United States |
ISSNLINKING: 1061-4036 |
NLMUNIQUEID: 9216904 |
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PUBLICATION TYPE |
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PUBLICATIONTYPE TEXT |
Journal Article |
Meta-Analysis |
Research Support, N.I.H., Extramural |
Research Support, Non-U.S. Gov't |
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COMMENTS AND CORRECTIONS |
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REFTYPE |
REFSOURCE |
REFPMID |
NOTE |
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ErratumIn |
Nat Genet. 2011 Sep;43(9):919 |
21102463 |
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GRANTS |
|
GRANTID |
AGENCY |
COUNTRY |
083948/Z/07/Z |
Wellcome Trust |
United Kingdom |
AI062773 |
NIAID NIH HHS |
United States |
CZB/4/540 |
Chief Scientist Office |
United Kingdom |
DK 063491 |
NIDDK NIH HHS |
United States |
DK043351 |
NIDDK NIH HHS |
United States |
DK062413 |
NIDDK NIH HHS |
United States |
DK062420 |
NIDDK NIH HHS |
United States |
DK062422 |
NIDDK NIH HHS |
United States |
DK062423 |
NIDDK NIH HHS |
United States |
DK062429 |
NIDDK NIH HHS |
United States |
DK062431 |
NIDDK NIH HHS |
United States |
DK062432 |
NIDDK NIH HHS |
United States |
DK064869 |
NIDDK NIH HHS |
United States |
DK069513 |
NIDDK NIH HHS |
United States |
DK076984 |
NIDDK NIH HHS |
United States |
DK084554 |
NIDDK NIH HHS |
United States |
DK83756 |
NIDDK NIH HHS |
United States |
ETM/137 |
Chief Scientist Office |
United Kingdom |
ETM/75 |
Chief Scientist Office |
United Kingdom |
G0600329 |
Medical Research Council |
United Kingdom |
G0800675 |
Medical Research Council |
United Kingdom |
G0800759 |
Medical Research Council |
United Kingdom |
G1002033 |
Medical Research Council |
United Kingdom |
M01-RR00425 |
NCRR NIH HHS |
United States |
P01 DK046763 |
NIDDK NIH HHS |
United States |
P01-DK046763 |
NIDDK NIH HHS |
United States |
P30 DK040561 |
NIDDK NIH HHS |
United States |
P30 DK040561-15 |
NIDDK NIH HHS |
United States |
P30 DK043351 |
NIDDK NIH HHS |
United States |
R01 DK060049 |
NIDDK NIH HHS |
United States |
R01 DK064869 |
NIDDK NIH HHS |
United States |
R01 DK064869-05S1 |
NIDDK NIH HHS |
United States |
R01 DK064869-06A1 |
NIDDK NIH HHS |
United States |
R01 DK064869-07 |
NIDDK NIH HHS |
United States |
R01 DK064869-08 |
NIDDK NIH HHS |
United States |
R01 DK083756 |
NIDDK NIH HHS |
United States |
U01 DK062420 |
NIDDK NIH HHS |
United States |
U01 DK062431 |
NIDDK NIH HHS |
United States |
U01 DK062432 |
NIDDK NIH HHS |
United States |
U01 DK062432-07 |
NIDDK NIH HHS |
United States |
U01 DK062432-08 |
NIDDK NIH HHS |
United States |
U01 DK062432-09 |
NIDDK NIH HHS |
United States |
U01 DK062432-10 |
NIDDK NIH HHS |
United States |
UL1 TR000005 |
NCATS NIH HHS |
United States |
WT089120/Z/09/Z |
Wellcome Trust |
United Kingdom |
WT091745/Z/10/Z |
Wellcome Trust |
United Kingdom |
|
Medical Research Council |
United Kingdom |
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GENERAL NOTE |
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KEYWORDS |
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MESH HEADINGS |
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DESCRIPTORNAME |
QUALIFIERNAME |
Colitis, Ulcerative |
genetics |
Crohn Disease |
genetics |
Genome-Wide Association Study |
genetics |
Humans |
genetics |
Risk |
genetics |
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SUPPLEMENTARY MESH |
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GENE SYMBOLS |
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CHEMICALS |
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OTHER ID's |
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OTHERID |
SOURCE |
NIHMS265993 |
NLM |
PMC3084597 |
NLM |
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