Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes

Anne Barton; Steve Eyre; Xiayi Ke; Anne Hinks; John Bowes; Edward Flynn; Paul Martin; Anthony G Wilson; Ann W Morgan; Paul Emery; Sophia Steer; Lynne Hocking; David M Reid; Pille Harrison; Paul Wordsworth; Wendy Thomson; Jane Worthington; YEAR Consortium

doi:10.1093/hmg/ddp177

Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes

Anne Barton, Steve Eyre, Xiayi Ke, Anne Hinks, John Bowes, Edward Flynn, Paul Martin, Anthony G Wilson, Ann W Morgan, Paul Emery, Sophia Steer, Lynne Hocking, David M Reid, Pille Harrison, Paul Wordsworth, Wendy Thomson, Jane Worthington, YEAR Consortium

Applied Medicine

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Abstract

The concept of susceptibility genes common to different autoimmune diseases is now firmly established with previous studies demonstrating overlap of loci conferring susceptibility to type 1 diabetes (T1D) with both Coeliac disease and multiple sclerosis. Rheumatoid arthritis (RA) is an archetypal autoimmune disease and we, therefore, targeted putative T1D susceptibility loci for genotyping in UK RA cases and unrelated controls. A novel RA susceptibility locus at AFF3 was identified with convincing evidence for association in a combined sample cohort of 6819 RA cases and 12 650 controls [OR 1.12 95% confidence intervals (CI) 1.07-1.17, P = 2.8 x 10(-7)]. Association of two previously described loci (CTLA-4 and 4q27) with RA was also replicated (OR 0.87, 95% CI 0.82-0.94, P = 1.1 x 10(-4) and OR 0.86, 95% CI 0.79-0.94, P = 5.4 x 10(-4), respectively). These findings take the number of established RA susceptibility loci to 13, only one of which has not been associated with other autoimmune diseases.

Original language	English
Pages (from-to)	2518-2522
Number of pages	5
Journal	Human Molecular Genetics
Volume	18
Issue number	13
Early online date	9 Apr 2009
DOIs	https://doi.org/10.1093/hmg/ddp177
Publication status	Published - 1 Jul 2009

Keywords

adult
aged
arthritis, rheumatoid
autoimmune diseases
case-control studies
cohort studies
diabetes mellitus, Type 1
European continental ancestry group
female
genetic predisposition to disease
genome-wide association study
humans
male
middle aged
multigene family
nuclear proteins
polymorphism, single nucleotide

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1093/hmg/ddp177

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© 2009 The Author(s) This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
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Barton, A., Eyre, S., Ke, X., Hinks, A., Bowes, J., Flynn, E., Martin, P., Wilson, A. G., Morgan, A. W., Emery, P., Steer, S., Hocking, L., Reid, D. M., Harrison, P., Wordsworth, P., Thomson, W., Worthington, J., & YEAR Consortium (2009). Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes. Human Molecular Genetics, 18(13), 2518-2522. https://doi.org/10.1093/hmg/ddp177

Barton, A, Eyre, S, Ke, X, Hinks, A, Bowes, J, Flynn, E, Martin, P, Wilson, AG, Morgan, AW, Emery, P, Steer, S, Hocking, L, Reid, DM, Harrison, P, Wordsworth, P, Thomson, W, Worthington, J & YEAR Consortium 2009, 'Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes', Human Molecular Genetics, vol. 18, no. 13, pp. 2518-2522. https://doi.org/10.1093/hmg/ddp177

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title = "Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes",

abstract = "The concept of susceptibility genes common to different autoimmune diseases is now firmly established with previous studies demonstrating overlap of loci conferring susceptibility to type 1 diabetes (T1D) with both Coeliac disease and multiple sclerosis. Rheumatoid arthritis (RA) is an archetypal autoimmune disease and we, therefore, targeted putative T1D susceptibility loci for genotyping in UK RA cases and unrelated controls. A novel RA susceptibility locus at AFF3 was identified with convincing evidence for association in a combined sample cohort of 6819 RA cases and 12 650 controls [OR 1.12 95% confidence intervals (CI) 1.07-1.17, P = 2.8 x 10(-7)]. Association of two previously described loci (CTLA-4 and 4q27) with RA was also replicated (OR 0.87, 95% CI 0.82-0.94, P = 1.1 x 10(-4) and OR 0.86, 95% CI 0.79-0.94, P = 5.4 x 10(-4), respectively). These findings take the number of established RA susceptibility loci to 13, only one of which has not been associated with other autoimmune diseases.",

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AU - Hinks, Anne

AU - Bowes, John

AU - Flynn, Edward

AU - Martin, Paul

AU - Wilson, Anthony G

AU - Morgan, Ann W

AU - Emery, Paul

AU - Steer, Sophia

AU - Hocking, Lynne

AU - Reid, David M

AU - Harrison, Pille

AU - Wordsworth, Paul

AU - Thomson, Wendy

AU - Worthington, Jane

AU - YEAR Consortium

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N2 - The concept of susceptibility genes common to different autoimmune diseases is now firmly established with previous studies demonstrating overlap of loci conferring susceptibility to type 1 diabetes (T1D) with both Coeliac disease and multiple sclerosis. Rheumatoid arthritis (RA) is an archetypal autoimmune disease and we, therefore, targeted putative T1D susceptibility loci for genotyping in UK RA cases and unrelated controls. A novel RA susceptibility locus at AFF3 was identified with convincing evidence for association in a combined sample cohort of 6819 RA cases and 12 650 controls [OR 1.12 95% confidence intervals (CI) 1.07-1.17, P = 2.8 x 10(-7)]. Association of two previously described loci (CTLA-4 and 4q27) with RA was also replicated (OR 0.87, 95% CI 0.82-0.94, P = 1.1 x 10(-4) and OR 0.86, 95% CI 0.79-0.94, P = 5.4 x 10(-4), respectively). These findings take the number of established RA susceptibility loci to 13, only one of which has not been associated with other autoimmune diseases.

AB - The concept of susceptibility genes common to different autoimmune diseases is now firmly established with previous studies demonstrating overlap of loci conferring susceptibility to type 1 diabetes (T1D) with both Coeliac disease and multiple sclerosis. Rheumatoid arthritis (RA) is an archetypal autoimmune disease and we, therefore, targeted putative T1D susceptibility loci for genotyping in UK RA cases and unrelated controls. A novel RA susceptibility locus at AFF3 was identified with convincing evidence for association in a combined sample cohort of 6819 RA cases and 12 650 controls [OR 1.12 95% confidence intervals (CI) 1.07-1.17, P = 2.8 x 10(-7)]. Association of two previously described loci (CTLA-4 and 4q27) with RA was also replicated (OR 0.87, 95% CI 0.82-0.94, P = 1.1 x 10(-4) and OR 0.86, 95% CI 0.79-0.94, P = 5.4 x 10(-4), respectively). These findings take the number of established RA susceptibility loci to 13, only one of which has not been associated with other autoimmune diseases.

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KW - aged

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KW - autoimmune diseases

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KW - cohort studies

KW - diabetes mellitus, Type 1

KW - European continental ancestry group

KW - female

KW - genetic predisposition to disease

KW - genome-wide association study

KW - humans

KW - male

KW - middle aged

KW - multigene family

KW - nuclear proteins

KW - polymorphism, single nucleotide

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ER -

Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes

Abstract

Keywords

UN SDGs

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