title: Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease.
abstract: 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.
authors.affiliation: 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.
authors.forename: Sheila A
authors.initials: SA
authors.lastname: Fisher
authors.forename: Mark
authors.initials: M
authors.lastname: Tremelling
authors.forename: Carl A
authors.initials: CA
authors.lastname: Anderson
authors.forename: Rhian
authors.initials: R
authors.lastname: Gwilliam
authors.forename: Suzannah
authors.initials: S
authors.lastname: Bumpstead
authors.forename: Natalie J
authors.initials: NJ
authors.lastname: Prescott
authors.forename: Elaine R
authors.initials: ER
authors.lastname: Nimmo
authors.forename: Dunecan
authors.initials: D
authors.lastname: Massey
authors.forename: Carlo
authors.initials: C
authors.lastname: Berzuini
authors.forename: Christopher
authors.initials: C
authors.lastname: Johnson
authors.forename: Jeffrey C
authors.initials: JC
authors.lastname: Barrett
authors.forename: Fraser R
authors.initials: FR
authors.lastname: Cummings
authors.forename: Hazel
authors.initials: H
authors.lastname: Drummond
authors.forename: Charlie W
authors.initials: CW
authors.lastname: Lees
authors.forename: Clive M
authors.initials: CM
authors.lastname: Onnie
authors.forename: Catherine E
authors.initials: CE
authors.lastname: Hanson
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Blaszczyk
authors.forename: Mike
authors.initials: M
authors.lastname: Inouye
authors.forename: Philip
authors.initials: P
authors.lastname: Ewels
authors.forename: Radhi
authors.initials: R
authors.lastname: Ravindrarajah
authors.forename: Andrew
authors.initials: A
authors.lastname: Keniry
authors.forename: Sarah
authors.initials: S
authors.lastname: Hunt
authors.forename: Martyn
authors.initials: M
authors.lastname: Carter
authors.forename: Nick
authors.initials: N
authors.lastname: Watkins
authors.forename: Willem
authors.initials: W
authors.lastname: Ouwehand
authors.forename: Cathryn M
authors.initials: CM
authors.lastname: Lewis
authors.forename: Lon
authors.initials: L
authors.lastname: Cardon
authors.forename: Alan
authors.initials: A
authors.lastname: Lobo
authors.forename: Alastair
authors.initials: A
authors.lastname: Forbes
authors.forename: Jeremy
authors.initials: J
authors.lastname: Sanderson
authors.forename: Derek P
authors.initials: DP
authors.lastname: Jewell
authors.forename: John C
authors.initials: JC
authors.lastname: Mansfield
authors.forename: Panos
authors.initials: P
authors.lastname: Deloukas
authors.forename: Christopher G
authors.initials: CG
authors.lastname: Mathew
authors.forename: Miles
authors.initials: M
authors.lastname: Parkes
authors.forename: Jack
authors.initials: J
authors.lastname: Satsangi
mesh_terms: 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
chemical_list: 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