title: Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.
abstract: Ulcerative colitis is a chronic inflammatory disease of the colon that presents as diarrhea and gastrointestinal bleeding. We performed a genome-wide association study using DNA samples from 1,052 individuals with ulcerative colitis and preexisting data from 2,571 controls, all of European ancestry. In an analysis that controlled for gender and population structure, ulcerative colitis loci attaining genome-wide significance and subsequent replication in two independent populations were identified on chromosomes 1p36 (rs6426833, combined P = 5.1 x 10(-13), combined odds ratio OR = 0.73) and 12q15 (rs1558744, combined P = 2.5 x 10(-12), combined OR = 1.35). In addition, combined genome-wide significant evidence for association was found in a region spanning BTNL2 to HLA-DQB1 on chromosome 6p21 (rs2395185, combined P = 1.0 x 10(-16), combined OR = 0.66) and at the IL23R locus on chromosome 1p31 (rs11209026, combined P = 1.3 x 10(-8), combined OR = 0.56; rs10889677, combined P = 1.3 x 10(-8), combined OR = 1.29).
authors.affiliation: Mount Sinai Hospital Inflammatory Bowel Disease Group, University of Toronto, 600 University Avenue, Toronto, ON M5G1X5, Canada.
authors.forename: Mark S
authors.initials: MS
authors.lastname: Silverberg
authors.forename: Judy H
authors.initials: JH
authors.lastname: Cho
authors.forename: John D
authors.initials: JD
authors.lastname: Rioux
authors.forename: Dermot P B
authors.initials: DP
authors.lastname: McGovern
authors.forename: Jing
authors.initials: J
authors.lastname: Wu
authors.forename: Vito
authors.initials: V
authors.lastname: Annese
authors.forename: Jean-Paul
authors.initials: JP
authors.lastname: Achkar
authors.forename: Philippe
authors.initials: P
authors.lastname: Goyette
authors.forename: Regan
authors.initials: R
authors.lastname: Scott
authors.forename: Wei
authors.initials: W
authors.lastname: Xu
authors.forename: M Michael
authors.initials: MM
authors.lastname: Barmada
authors.forename: Lambertus
authors.initials: L
authors.lastname: Klei
authors.forename: Mark J
authors.initials: MJ
authors.lastname: Daly
authors.forename: Clara
authors.initials: C
authors.lastname: Abraham
authors.forename: Theodore M
authors.initials: TM
authors.lastname: Bayless
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Bossa
authors.forename: Anne M
authors.initials: AM
authors.lastname: Griffiths
authors.forename: Andrew F
authors.initials: AF
authors.lastname: Ippoliti
authors.forename: Raymond G
authors.initials: RG
authors.lastname: Lahaie
authors.forename: Anna
authors.initials: A
authors.lastname: Latiano
authors.forename: Pierre
authors.initials: P
authors.lastname: Paré
authors.forename: Deborah D
authors.initials: DD
authors.lastname: Proctor
authors.forename: Miguel D
authors.initials: MD
authors.lastname: Regueiro
authors.forename: A Hillary
authors.initials: AH
authors.lastname: Steinhart
authors.forename: Stephan R
authors.initials: SR
authors.lastname: Targan
authors.forename: L Philip
authors.initials: LP
authors.lastname: Schumm
authors.forename: Emily O
authors.initials: EO
authors.lastname: Kistner
authors.forename: Annette T
authors.initials: AT
authors.lastname: Lee
authors.forename: Peter K
authors.initials: PK
authors.lastname: Gregersen
authors.forename: Jerome I
authors.initials: JI
authors.lastname: Rotter
authors.forename: Steven R
authors.initials: SR
authors.lastname: Brant
authors.forename: Kent D
authors.initials: KD
authors.lastname: Taylor
authors.forename: Kathryn
authors.initials: K
authors.lastname: Roeder
authors.forename: Richard H
authors.initials: RH
authors.lastname: Duerr
mesh_terms: D000071797:Butyrophilins; D016022:Case-Control Studies; D002878:Chromosomes, Human, Pair 1; D002881:Chromosomes, Human, Pair 12; D002896:Chromosomes, Human, Pair 6; D003093:Colitis, Ulcerative / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006683:HLA-DQ Antigens / Q000235:genetics; D059866:HLA-DQ beta-Chains; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D018123:Receptors, Interleukin / Q000235:genetics; D011995:Recombination, Genetic; D012307:Risk Factors
chemical_list: C408263:BTNL2 protein, human; D000071797:Butyrophilins; D006683:HLA-DQ Antigens; D059866:HLA-DQ beta-Chains; C069051:HLA-DQB1 antigen; C515500:IL23R protein, human; D008562:Membrane Glycoproteins; D018123:Receptors, Interleukin