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

Mark S. Silverberg; Judy H. Cho; John D. Rioux; Dermot P.B. McGovern; Jing Wu; Vito Annese; Jean Paul Achkar; Philippe Goyette; Regan Scott; Wei Xu; M. Michael Barmada; Lambertus Klei; Mark J. Daly; Clara Abraham; Theodore M. Bayless; Fabrizio Bossa; Anne M. Griffiths; Andrew F. Ippoliti; Raymond G. Lahaie; Anna Latiano; Pierre Paré; Deborah D. Proctor; Miguel D. Regueiro; A. Hillary Steinhart; Stephan R. Targan; L. Philip Schumm; Emily O. Kistner; Annette T. Lee; Peter K. Gregersen; Jerome I. Rotter; Steven R. Brant; Kent D. Taylor; Kathryn Roeder; Richard H. Duerr

doi:10.1038/ng.275

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

Mark S. Silverberg, Judy H. Cho, John D. Rioux, Dermot P.B. McGovern, Jing Wu, Vito Annese, Jean Paul Achkar, Philippe Goyette, Regan Scott, Wei Xu, M. Michael Barmada, Lambertus Klei, Mark J. Daly, Clara Abraham, Theodore M. Bayless, Fabrizio Bossa, Anne M. Griffiths, Andrew F. Ippoliti, Raymond G. Lahaie, Anna LatianoPierre Paré, Deborah D. Proctor, Miguel D. Regueiro, A. Hillary Steinhart, Stephan R. Targan, L. Philip Schumm, Emily O. Kistner, Annette T. Lee, Peter K. Gregersen, Jerome I. Rotter, Steven R. Brant, Kent D. Taylor, Kathryn Roeder, Richard H. Duerr

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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 × 10^-13, combined odds ratio 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).

Original language	English (US)
Pages (from-to)	216-220
Number of pages	5
Journal	Nature genetics
Volume	41
Issue number	2
DOIs	https://doi.org/10.1038/ng.275
State	Published - Feb 2009
Externally published	Yes

ASJC Scopus subject areas

Genetics

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Silverberg, M. S., Cho, J. H., Rioux, J. D., McGovern, D. P. B., Wu, J., Annese, V., Achkar, J. P., Goyette, P., Scott, R., Xu, W., Barmada, M. M., Klei, L., Daly, M. J., Abraham, C., Bayless, T. M., Bossa, F., Griffiths, A. M., Ippoliti, A. F., Lahaie, R. G., ... Duerr, R. H. (2009). Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. Nature genetics, 41(2), 216-220. https://doi.org/10.1038/ng.275

Silverberg, MS, Cho, JH, Rioux, JD, McGovern, DPB, Wu, J, Annese, V, Achkar, JP, Goyette, P, Scott, R, Xu, W, Barmada, MM, Klei, L, Daly, MJ, Abraham, C, Bayless, TM, Bossa, F, Griffiths, AM, Ippoliti, AF, Lahaie, RG, Latiano, A, Paré, P, Proctor, DD, Regueiro, MD, Steinhart, AH, Targan, SR, Schumm, LP, Kistner, EO, Lee, AT, Gregersen, PK, Rotter, JI, Brant, SR, Taylor, KD, Roeder, K & Duerr, RH 2009, 'Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study', Nature genetics, vol. 41, no. 2, pp. 216-220. https://doi.org/10.1038/ng.275

@article{618e3bbf493d42918218541be82cdfe3,

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 × 10-13, combined odds ratio 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).",

author = "Silverberg, {Mark S.} and Cho, {Judy H.} and Rioux, {John D.} and McGovern, {Dermot P.B.} and Jing Wu and Vito Annese and Achkar, {Jean Paul} and Philippe Goyette and Regan Scott and Wei Xu and Barmada, {M. Michael} and Lambertus Klei and Daly, {Mark J.} and Clara Abraham and Bayless, {Theodore M.} and Fabrizio Bossa and Griffiths, {Anne M.} and Ippoliti, {Andrew F.} and Lahaie, {Raymond G.} and Anna Latiano and Pierre Par{\'e} and Proctor, {Deborah D.} and Regueiro, {Miguel D.} and Steinhart, {A. Hillary} and Targan, {Stephan R.} and Schumm, {L. Philip} and Kistner, {Emily O.} and Lee, {Annette T.} and Gregersen, {Peter K.} and Rotter, {Jerome I.} and Brant, {Steven R.} and Taylor, {Kent D.} and Kathryn Roeder and Duerr, {Richard H.}",

year = "2009",

month = feb,

doi = "10.1038/ng.275",

language = "English (US)",

volume = "41",

pages = "216--220",

journal = "Nature genetics",

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T1 - Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study

AU - Silverberg, Mark S.

AU - Cho, Judy H.

AU - Rioux, John D.

AU - McGovern, Dermot P.B.

AU - Wu, Jing

AU - Annese, Vito

AU - Achkar, Jean Paul

AU - Goyette, Philippe

AU - Scott, Regan

AU - Xu, Wei

AU - Barmada, M. Michael

AU - Klei, Lambertus

AU - Daly, Mark J.

AU - Abraham, Clara

AU - Bayless, Theodore M.

AU - Bossa, Fabrizio

AU - Griffiths, Anne M.

AU - Ippoliti, Andrew F.

AU - Lahaie, Raymond G.

AU - Latiano, Anna

AU - Paré, Pierre

AU - Proctor, Deborah D.

AU - Regueiro, Miguel D.

AU - Steinhart, A. Hillary

AU - Targan, Stephan R.

AU - Schumm, L. Philip

AU - Kistner, Emily O.

AU - Lee, Annette T.

AU - Gregersen, Peter K.

AU - Rotter, Jerome I.

AU - Brant, Steven R.

AU - Taylor, Kent D.

AU - Roeder, Kathryn

AU - Duerr, Richard H.

PY - 2009/2

Y1 - 2009/2

N2 - 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 × 10-13, combined odds ratio 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).

AB - 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 × 10-13, combined odds ratio 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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Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study

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