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

Gerome Daniel Breen; David A Collier; Amanda Clare Elkin; Anne Elizabeth Farmer; Richard John Williamson; Peter McGuffin; Richard James Butler Dobson; Sheila Anne Fisher; Cathryn Mair Lewis; Clive M. Onnie; Natalie Joy Prescott; Jeremy Sanderson; Christopher G. Matthew; David St Clair

doi:10.1038/ng.2007.17

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

Gerome Daniel Breen, David A Collier, Amanda Clare Elkin, Anne Elizabeth Farmer, Richard John Williamson, Peter McGuffin, Richard James Butler Dobson, Sheila Anne Fisher, Cathryn Mair Lewis, Clive M. Onnie, Natalie Joy Prescott, Jeremy Sanderson, Christopher G. Matthew, David St Clair

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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 - Nov 2007

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Breen, G. D., Collier, D. A., Elkin, A. C., Farmer, A. E., Williamson, R. J., McGuffin, P., Dobson, R. J. B., Fisher, S. A., Lewis, C. M., Onnie, C. M., Prescott, N. J., Sanderson, J., Matthew, C. G., & St Clair, D. (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 = "Breen, {Gerome Daniel} and Collier, {David A} and Elkin, {Amanda Clare} and Farmer, {Anne Elizabeth} and Williamson, {Richard John} and Peter McGuffin and Dobson, {Richard James Butler} and Fisher, {Sheila Anne} and Lewis, {Cathryn Mair} and Onnie, {Clive M.} and Prescott, {Natalie Joy} and Jeremy Sanderson and Matthew, {Christopher G.} and {St Clair}, David",

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AU - Breen, Gerome Daniel

AU - Collier, David A

AU - Elkin, Amanda Clare

AU - Farmer, Anne Elizabeth

AU - Williamson, Richard John

AU - McGuffin, Peter

AU - Dobson, Richard James Butler

AU - Fisher, Sheila Anne

AU - Lewis, Cathryn Mair

AU - Onnie, Clive M.

AU - Prescott, Natalie Joy

AU - Sanderson, Jeremy

AU - Matthew, Christopher G.

AU - St Clair, David

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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.

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DO - 10.1038/ng.2007.17

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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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