Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants

Paul R Burton; David G Clayton; Lon R Cardon; Nick Craddock; Panos Deloukas; Audrey Duncanson; Dominic P Kwiatkowski; Mark I McCarthy; Willem H Ouwehand; Nilesh J Samani; John A Todd; Peter Donnelly; Jeffrey C Barrett; Dan Davison; Doug Easton; David Evans; Hin-Tak Leung; Jonathan L Marchini; Andrew P Morris; Chris C A Spencer; Martin D Tobin; Antony P Attwood; James P Boorman; Barbara Cant; Ursula Everson; Judith M Hussey; Jennifer D Jolley; Alexandra S Knight; Kerstin Koch; Elizabeth Meech; Sarah Nutland; Christopher V Prowse; Helen E Stevens; Niall C Taylor; Graham R Walters; Neil M Walker; Nicholas A Watkins; Thilo Winzer; Richard W Jones; Wendy L McArdle; Susan M Ring; David P Strachan; Marcus Pembrey; Gerome Breen; David St Clair; Sian Caesar; Katharine Gordon-Smith; Rachel M Freathy; Nicholas J Timpson; Marcus Pembrey; Wellcome Trust Case Control Consortium

doi:10.1038/ng.2007.17

Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants

Paul R Burton, David G Clayton, Lon R Cardon, Nick Craddock, Panos Deloukas, Audrey Duncanson, Dominic P Kwiatkowski, Mark I McCarthy, Willem H Ouwehand, Nilesh J Samani, John A Todd, Peter Donnelly, Jeffrey C Barrett, Dan Davison, Doug Easton, David Evans, Hin-Tak Leung, Jonathan L Marchini, Andrew P Morris, Chris C A SpencerMartin D Tobin, Antony P Attwood, James P Boorman, Barbara Cant, Ursula Everson, Judith M Hussey, Jennifer D Jolley, Alexandra S Knight, Kerstin Koch, Elizabeth Meech, Sarah Nutland, Christopher V Prowse, Helen E Stevens, Niall C Taylor, Graham R Walters, Neil M Walker, Nicholas A Watkins, Thilo Winzer, Richard W Jones, Wendy L McArdle, Susan M Ring, David P Strachan, Marcus Pembrey, Gerome Breen, David St Clair, Sian Caesar, Katharine Gordon-Smith, Rachel M Freathy, Nicholas J Timpson, Marcus Pembrey, Wellcome Trust Case Control Consortium

Bristol Medical School (PHS)

Research output: Contribution to journal › Article (Academic Journal) › peer-review

1237 Citations (Scopus)

Abstract

We have genotyped 14,436 nonsynonymous SNPs (nsSNPs) and 897 major histocompatibility complex (MHC) tag SNPs from 1,000 independent cases of ankylosing spondylitis (AS), autoimmune thyroid disease (AITD), multiple sclerosis (MS) and breast cancer (BC). Comparing these data against a common control dataset derived from 1,500 randomly selected healthy British individuals, we report initial association and independent replication in a North American sample of two new loci related to ankylosing spondylitis, ARTS1 and IL23R, and confirmation of the previously reported association of AITD with TSHR and FCRL3. These findings, enabled in part by increased statistical power resulting from the expansion of the control reference group to include individuals from the other disease groups, highlight notable new possibilities for autoimmune regulation and suggest that IL23R may be a common susceptibility factor for the major 'seronegative' diseases.

Original language	English
Pages (from-to)	1329-1337
Number of pages	9
Journal	Nature Genetics
Volume	39
Issue number	11
DOIs	https://doi.org/10.1038/ng.2007.17
Publication status	Published - 2007

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Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., Ouwehand, W. H., Samani, N. J., Todd, J. A., Donnelly, P., Barrett, J. C., Davison, D., Easton, D., Evans, D., Leung, H.-T., Marchini, J. L., Morris, A. P., ... Wellcome Trust Case Control Consortium (2007). Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nature Genetics, 39(11), 1329-1337. https://doi.org/10.1038/ng.2007.17

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title = "Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants",

abstract = "We have genotyped 14,436 nonsynonymous SNPs (nsSNPs) and 897 major histocompatibility complex (MHC) tag SNPs from 1,000 independent cases of ankylosing spondylitis (AS), autoimmune thyroid disease (AITD), multiple sclerosis (MS) and breast cancer (BC). Comparing these data against a common control dataset derived from 1,500 randomly selected healthy British individuals, we report initial association and independent replication in a North American sample of two new loci related to ankylosing spondylitis, ARTS1 and IL23R, and confirmation of the previously reported association of AITD with TSHR and FCRL3. These findings, enabled in part by increased statistical power resulting from the expansion of the control reference group to include individuals from the other disease groups, highlight notable new possibilities for autoimmune regulation and suggest that IL23R may be a common susceptibility factor for the major 'seronegative' diseases.",

author = "Burton, \{Paul R\} and Clayton, \{David G\} and Cardon, \{Lon R\} and Nick Craddock and Panos Deloukas and Audrey Duncanson and Kwiatkowski, \{Dominic P\} and McCarthy, \{Mark I\} and Ouwehand, \{Willem H\} and Samani, \{Nilesh J\} and Todd, \{John A\} and Peter Donnelly and Barrett, \{Jeffrey C\} and Dan Davison and Doug Easton and David Evans and Hin-Tak Leung and Marchini, \{Jonathan L\} and Morris, \{Andrew P\} and Spencer, \{Chris C A\} and Tobin, \{Martin D\} and Attwood, \{Antony P\} and Boorman, \{James P\} and Barbara Cant and Ursula Everson and Hussey, \{Judith M\} and Jolley, \{Jennifer D\} and Knight, \{Alexandra S\} and Kerstin Koch and Elizabeth Meech and Sarah Nutland and Prowse, \{Christopher V\} and Stevens, \{Helen E\} and Taylor, \{Niall C\} and Walters, \{Graham R\} and Walker, \{Neil M\} and Watkins, \{Nicholas A\} and Thilo Winzer and Jones, \{Richard W\} and McArdle, \{Wendy L\} and Ring, \{Susan M\} and Strachan, \{David P\} and Marcus Pembrey and Gerome Breen and \{St Clair\}, David and Sian Caesar and Katharine Gordon-Smith and Freathy, \{Rachel M\} and Timpson, \{Nicholas J\} and Marcus Pembrey and \{Wellcome Trust Case Control Consortium\}",

year = "2007",

doi = "10.1038/ng.2007.17",

language = "English",

volume = "39",

pages = "1329--1337",

journal = "Nature Genetics",

issn = "1546-1718",

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Burton, PR, Clayton, DG, Cardon, LR, Craddock, N, Deloukas, P, Duncanson, A, Kwiatkowski, DP, McCarthy, MI, Ouwehand, WH, Samani, NJ, Todd, JA, Donnelly, P, Barrett, JC, Davison, D, Easton, D, Evans, D, Leung, H-T, Marchini, JL, Morris, AP, Spencer, CCA, Tobin, MD, Attwood, AP, Boorman, JP, Cant, B, Everson, U, Hussey, JM, Jolley, JD, Knight, AS, Koch, K, Meech, E, Nutland, S, Prowse, CV, Stevens, HE, Taylor, NC, Walters, GR, Walker, NM, Watkins, NA, Winzer, T, Jones, RW, McArdle, WL, Ring, SM, Strachan, DP, Pembrey, M, Breen, G, St Clair, D, Caesar, S, Gordon-Smith, K, Freathy, RM, Timpson, NJ, Pembrey, M & Wellcome Trust Case Control Consortium 2007, 'Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants', Nature Genetics, vol. 39, no. 11, pp. 1329-1337. https://doi.org/10.1038/ng.2007.17

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AU - Burton, Paul R

AU - Clayton, David G

AU - Cardon, Lon R

AU - Craddock, Nick

AU - Deloukas, Panos

AU - Duncanson, Audrey

AU - Kwiatkowski, Dominic P

AU - McCarthy, Mark I

AU - Ouwehand, Willem H

AU - Samani, Nilesh J

AU - Todd, John A

AU - Donnelly, Peter

AU - Barrett, Jeffrey C

AU - Davison, Dan

AU - Easton, Doug

AU - Evans, David

AU - Leung, Hin-Tak

AU - Marchini, Jonathan L

AU - Morris, Andrew P

AU - Spencer, Chris C A

AU - Tobin, Martin D

AU - Attwood, Antony P

AU - Boorman, James P

AU - Cant, Barbara

AU - Everson, Ursula

AU - Hussey, Judith M

AU - Jolley, Jennifer D

AU - Knight, Alexandra S

AU - Koch, Kerstin

AU - Meech, Elizabeth

AU - Nutland, Sarah

AU - Prowse, Christopher V

AU - Stevens, Helen E

AU - Taylor, Niall C

AU - Walters, Graham R

AU - Walker, Neil M

AU - Watkins, Nicholas A

AU - Winzer, Thilo

AU - Jones, Richard W

AU - McArdle, Wendy L

AU - Ring, Susan M

AU - Strachan, David P

AU - Pembrey, Marcus

AU - Breen, Gerome

AU - St Clair, David

AU - Caesar, Sian

AU - Gordon-Smith, Katharine

AU - Freathy, Rachel M

AU - Timpson, Nicholas J

AU - Pembrey, Marcus

AU - Wellcome Trust Case Control Consortium

PY - 2007

Y1 - 2007

N2 - We have genotyped 14,436 nonsynonymous SNPs (nsSNPs) and 897 major histocompatibility complex (MHC) tag SNPs from 1,000 independent cases of ankylosing spondylitis (AS), autoimmune thyroid disease (AITD), multiple sclerosis (MS) and breast cancer (BC). Comparing these data against a common control dataset derived from 1,500 randomly selected healthy British individuals, we report initial association and independent replication in a North American sample of two new loci related to ankylosing spondylitis, ARTS1 and IL23R, and confirmation of the previously reported association of AITD with TSHR and FCRL3. These findings, enabled in part by increased statistical power resulting from the expansion of the control reference group to include individuals from the other disease groups, highlight notable new possibilities for autoimmune regulation and suggest that IL23R may be a common susceptibility factor for the major 'seronegative' diseases.

AB - We have genotyped 14,436 nonsynonymous SNPs (nsSNPs) and 897 major histocompatibility complex (MHC) tag SNPs from 1,000 independent cases of ankylosing spondylitis (AS), autoimmune thyroid disease (AITD), multiple sclerosis (MS) and breast cancer (BC). Comparing these data against a common control dataset derived from 1,500 randomly selected healthy British individuals, we report initial association and independent replication in a North American sample of two new loci related to ankylosing spondylitis, ARTS1 and IL23R, and confirmation of the previously reported association of AITD with TSHR and FCRL3. These findings, enabled in part by increased statistical power resulting from the expansion of the control reference group to include individuals from the other disease groups, highlight notable new possibilities for autoimmune regulation and suggest that IL23R may be a common susceptibility factor for the major 'seronegative' diseases.

U2 - 10.1038/ng.2007.17

DO - 10.1038/ng.2007.17

M3 - Article (Academic Journal)

C2 - 17952073

SN - 1546-1718

VL - 39

SP - 1329

EP - 1337

JO - Nature Genetics

JF - Nature Genetics

IS - 11

ER -

Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants

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