Ulcerative colitis loci on chromosomes 1p36 and 12q15 identified by genome-wide association study

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 pre-existing data from 2,571 controls, all of European ancestry...

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Detalles Bibliográficos
Autores principales: Silverberg, Mark S., Cho, Judy H., Rioux, John D., McGovern, Dermot P.B., Wu, Jing, Annese, Vito, Achkar, Jean-Paul, Goyette, Philippe, Scott, Regan, Xu, Wei, Barmada, M. Michael, Klei, Lambertus, Daly, Mark J., Abraham, Clara, Bayless, Theodore M., Bossa, Fabrizio, Griffiths, Anne M., Ippoliti, Andrew F., Lahaie, Raymond G., Latiano, Anna, Paré, Pierre, Proctor, Deborah D., Regueiro, Miguel D., Steinhart, A. Hillary, Targan, Stephan R., Schumm, L. Philip, Kistner, Emily O., Lee, Annette T., Gregersen, Peter K., Rotter, Jerome I., Brant, Steven R., Taylor, Kent D., Roeder, Kathryn, Duerr, Richard H.
Formato: Texto
Lenguaje:English
Publicado: 2009
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2652837/
https://www.ncbi.nlm.nih.gov/pubmed/19122664
http://dx.doi.org/10.1038/ng.275
Descripción
Sumario: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 pre-existing 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 = 5.1×10(−13), combined OR = 0.73) and 12q15 (rs1558744, combined P = 2.5×10(−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 = 1.0×10(−16), combined OR = 0.66) and at the IL23R locus on chromosome 1p31 (rs11209026, combined P = 1.3×10(−8), combined OR = 0.56; rs10889677, combined P = 1.3×10(−8), combined OR = 1.29).

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