Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease

Sheila A Fisher; Mark Tremelling; Carl A Anderson; Rhian Gwilliam; Suzannah Bumpstead; Natalie J Prescott; Elaine R Nimmo; Dunecan Massey; Carlo Berzuini; Christopher Johnson; Jeffrey C Barrett; Fraser R Cummings; Hazel Drummond; Charlie W Lees; Clive M Onnie; Catherine E Hanson; Katarzyna Blaszczyk; Mike Inouye; Philip Ewels; Radhi Ravindrarajah; Andrew Keniry; Sarah Hunt; Martyn Carter; Nick Watkins; Willem Ouwehand; Cathryn M Lewis; Lon Cardon; Alan Lobo; Alastair Forbes; Jeremy Sanderson; Derek P Jewell; John C Mansfield; Panos Deloukas; Christopher G Mathew; Miles Parkes; Jack Satsangi; Wellcome Trust Case Control Consortium

doi:10.1038/ng.145

Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease

Sheila A Fisher, Mark Tremelling, Carl A Anderson, Rhian Gwilliam, Suzannah Bumpstead, Natalie J Prescott, Elaine R Nimmo, Dunecan Massey, Carlo Berzuini, Christopher Johnson, Jeffrey C Barrett, Fraser R Cummings, Hazel Drummond, Charlie W Lees, Clive M Onnie, Catherine E Hanson, Katarzyna Blaszczyk, Mike Inouye, Philip Ewels, Radhi RavindrarajahAndrew Keniry, Sarah Hunt, Martyn Carter, Nick Watkins, Willem Ouwehand, Cathryn M Lewis, Lon Cardon, Alan Lobo, Alastair Forbes, Jeremy Sanderson, Derek P Jewell, John C Mansfield, Panos Deloukas, Christopher G Mathew, Miles Parkes, Jack Satsangi, Wellcome Trust Case Control Consortium

Research output: Contribution to journal › Article › peer-review

379 Citations (Scopus)

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.

Original language	English
Pages (from-to)	710-2
Number of pages	3
Journal	Nature Genetics
Volume	40
Issue number	6
DOIs	https://doi.org/10.1038/ng.145
Publication status	Published - Jun 2008

Keywords

Biological Markers
Carrier Proteins
Case-Control Studies
Cohort Studies
Colitis, Ulcerative
Crohn Disease
Extracellular Matrix Proteins
GTP-Binding Proteins
Genetic Predisposition to Disease
HLA-A Antigens
Homeodomain Proteins
Humans
Interleukin-12 Subunit p40
Nod2 Signaling Adaptor Protein
Polymorphism, Single Nucleotide
Protein-Serine-Threonine Kinases
Receptors, Interleukin
Risk Factors

Access to Document

10.1038/ng.145

Cite this

Fisher, S. A., Tremelling, M., Anderson, C. A., Gwilliam, R., Bumpstead, S., Prescott, N. J., Nimmo, E. R., Massey, D., Berzuini, C., Johnson, C., Barrett, J. C., Cummings, F. R., Drummond, H., Lees, C. W., Onnie, C. M., Hanson, C. E., Blaszczyk, K., Inouye, M., Ewels, P., ... Wellcome Trust Case Control Consortium (2008). Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease. Nature Genetics, 40(6), 710-2. https://doi.org/10.1038/ng.145

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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.",

keywords = "Biological Markers, Carrier Proteins, Case-Control Studies, Cohort Studies, Colitis, Ulcerative, Crohn Disease, Extracellular Matrix Proteins, GTP-Binding Proteins, Genetic Predisposition to Disease, HLA-A Antigens, Homeodomain Proteins, Humans, Interleukin-12 Subunit p40, Nod2 Signaling Adaptor Protein, Polymorphism, Single Nucleotide, Protein-Serine-Threonine Kinases, Receptors, Interleukin, Risk Factors",

author = "Fisher, {Sheila A} and Mark Tremelling and Anderson, {Carl A} and Rhian Gwilliam and Suzannah Bumpstead and Prescott, {Natalie J} and Nimmo, {Elaine R} and Dunecan Massey and Carlo Berzuini and Christopher Johnson and Barrett, {Jeffrey C} and Cummings, {Fraser R} and Hazel Drummond and Lees, {Charlie W} and Onnie, {Clive M} and Hanson, {Catherine E} and Katarzyna Blaszczyk and Mike Inouye and Philip Ewels and Radhi Ravindrarajah and Andrew Keniry and Sarah Hunt and Martyn Carter and Nick Watkins and Willem Ouwehand and Lewis, {Cathryn M} and Lon Cardon and Alan Lobo and Alastair Forbes and Jeremy Sanderson and Jewell, {Derek P} and Mansfield, {John C} and Panos Deloukas and Mathew, {Christopher G} and Miles Parkes and Jack Satsangi and {Wellcome Trust Case Control Consortium}",

year = "2008",

month = jun,

doi = "10.1038/ng.145",

language = "English",

volume = "40",

pages = "710--2",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

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Fisher, SA, Tremelling, M, Anderson, CA, Gwilliam, R, Bumpstead, S, Prescott, NJ, Nimmo, ER, Massey, D, Berzuini, C, Johnson, C, Barrett, JC, Cummings, FR, Drummond, H, Lees, CW, Onnie, CM, Hanson, CE, Blaszczyk, K, Inouye, M, Ewels, P, Ravindrarajah, R, Keniry, A, Hunt, S, Carter, M, Watkins, N, Ouwehand, W, Lewis, CM, Cardon, L, Lobo, A, Forbes, A, Sanderson, J, Jewell, DP, Mansfield, JC, Deloukas, P, Mathew, CG, Parkes, M, Satsangi, J & Wellcome Trust Case Control Consortium 2008, 'Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease', Nature Genetics, vol. 40, no. 6, pp. 710-2. https://doi.org/10.1038/ng.145

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T1 - Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease

AU - Fisher, Sheila A

AU - Tremelling, Mark

AU - Anderson, Carl A

AU - Gwilliam, Rhian

AU - Bumpstead, Suzannah

AU - Prescott, Natalie J

AU - Nimmo, Elaine R

AU - Massey, Dunecan

AU - Berzuini, Carlo

AU - Johnson, Christopher

AU - Barrett, Jeffrey C

AU - Cummings, Fraser R

AU - Drummond, Hazel

AU - Lees, Charlie W

AU - Onnie, Clive M

AU - Hanson, Catherine E

AU - Blaszczyk, Katarzyna

AU - Inouye, Mike

AU - Ewels, Philip

AU - Ravindrarajah, Radhi

AU - Keniry, Andrew

AU - Hunt, Sarah

AU - Carter, Martyn

AU - Watkins, Nick

AU - Ouwehand, Willem

AU - Lewis, Cathryn M

AU - Cardon, Lon

AU - Lobo, Alan

AU - Forbes, Alastair

AU - Sanderson, Jeremy

AU - Jewell, Derek P

AU - Mansfield, John C

AU - Deloukas, Panos

AU - Mathew, Christopher G

AU - Parkes, Miles

AU - Satsangi, Jack

AU - Wellcome Trust Case Control Consortium

PY - 2008/6

Y1 - 2008/6

N2 - 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.

AB - 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.

KW - Biological Markers

KW - Carrier Proteins

KW - Case-Control Studies

KW - Cohort Studies

KW - Colitis, Ulcerative

KW - Crohn Disease

KW - Extracellular Matrix Proteins

KW - GTP-Binding Proteins

KW - Genetic Predisposition to Disease

KW - HLA-A Antigens

KW - Homeodomain Proteins

KW - Humans

KW - Interleukin-12 Subunit p40

KW - Nod2 Signaling Adaptor Protein

KW - Polymorphism, Single Nucleotide

KW - Protein-Serine-Threonine Kinases

KW - Receptors, Interleukin

KW - Risk Factors

U2 - 10.1038/ng.145

DO - 10.1038/ng.145

M3 - Article

C2 - 18438406

VL - 40

SP - 710

EP - 712

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 6

ER -