Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease.
We report results of a nonsynonymous SNP scan for ulcerative colitis and identify a previously unknown susceptibility locus at ECM1. We also show that several risk loci are common to ulcerative colitis and Crohn's disease (IL23R, IL12B, HLA, NKX2-3 and MST1), whereas autophagy genes ATG16L1 and IRGM, along with NOD2 (also known as CARD15), are specific for Crohn's disease. These data provide the first detailed illustration of the genetic relationship between these common inflammatory bowel diseases.
Fisher
Sheila A
SA
Department of Medical and Molecular Genetics, King's College London School of Medicine, 8th Floor Guy's Tower, Guy's Hospital, London SE1 9RT, UK.
Tremelling
Mark
M
Anderson
Carl A
CA
Gwilliam
Rhian
R
Bumpstead
Suzannah
S
Prescott
Natalie J
NJ
Nimmo
Elaine R
ER
Massey
Dunecan
D
Berzuini
Carlo
C
Johnson
Christopher
C
Barrett
Jeffrey C
JC
Cummings
Fraser R
FR
Drummond
Hazel
H
Lees
Charlie W
CW
Onnie
Clive M
CM
Hanson
Catherine E
CE
Blaszczyk
Katarzyna
K
Inouye
Mike
M
Ewels
Philip
P
Ravindrarajah
Radhi
R
Keniry
Andrew
A
Hunt
Sarah
S
Carter
Martyn
M
Watkins
Nick
N
Ouwehand
Willem
W
Lewis
Cathryn M
CM
Cardon
Lon
L
Lobo
Alan
A
Forbes
Alastair
A
Sanderson
Jeremy
J
Jewell
Derek P
DP
Mansfield
John C
JC
Deloukas
Panos
P
Mathew
Christopher G
CG
Parkes
Miles
M
Satsangi
Jack
J
D000071183:Autophagy-Related Proteins; D015415:Biomarkers / Q000378:metabolism*; D002352:Carrier Proteins / Q000235:genetics; D016022:Case-Control Studies; D015331:Cohort Studies; D003093:Colitis, Ulcerative / Q000453:epidemiology / Q000235:genetics*; D003424:Crohn Disease / Q000453:epidemiology / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D019204:GTP-Binding Proteins / Q000235:genetics; D020022:Genetic Predisposition to Disease; D015234:HLA-A Antigens / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D053762:Interleukin-12 Subunit p40 / Q000235:genetics; D047908:Intracellular Signaling Peptides and Proteins; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D018123:Receptors, Interleukin / Q000235:genetics; D012307:Risk Factors; D000099317:Hippo Kinases
D000071183:Autophagy-Related Proteins; D015415:Biomarkers; D002352:Carrier Proteins; D016326:Extracellular Matrix Proteins; D019204:GTP-Binding Proteins; D015234:HLA-A Antigens; D018398:Homeodomain Proteins; D053762:Interleukin-12 Subunit p40; D047908:Intracellular Signaling Peptides and Proteins; D053473:Nod2 Signaling Adaptor Protein; D017346:Protein Serine-Threonine Kinases; D018123:Receptors, Interleukin; C518959:ATG16L1 protein, human; C490607:ECM1 protein, human; C500879:IL12B protein, human; C515500:IL23R protein, human; C429018:NOD2 protein, human; C095566:STK4 protein, human; D000099317:Hippo Kinases; C513539:IRGM protein, human