<i>ARTS1</i> polymorphisms are associated with ankylosing spondylitis in Koreans

Choi, Chan-Bum; Kim, Tae‐Hwan; Jun, Jae‐Bum; Lee, Hye‐Soon; Shim, Seung Cheol; Lee, Bitnara; Pope, Angela; Uddin, M.J.; Rahman, Proton; Inman, Robert D.

doi:10.1136/ard.2008.105296

Cited by 57 publications

(55 citation statements)

References 16 publications

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“…The Wellcome Trust CaseControl consortium and Australo-Anglo-American Spondyloarthritis Consortium first described the association of five ERAP1 single nucleotide polymorphisms (SNPs) and AS (Consortium WTCCC/TASC, 2007), namely rs27044, rs17482078, rs10050860, rs30187 and rs2287987. Two of these SNPs, rs27044 and rs30187, gathered more consistent results in the subsequent reports and were the only markers that showed significant association both in Caucasian and in Han Chinese groups (Choi, et al, 2010;Harvey, et al, 2009a;Maksymowych, W. P., et al, 2009;Pazar, et al, 2010;Pimentel-Santos, et al, 2009). The significant relation between rs27044 and AS was not confirmed in Canadian, contrarily to all other replicates involving this SNP and Caucasian groups.…”

Section: Erap1/arts1supporting

confidence: 50%

“…Since the confirmed association between ERAP1 and AS reported in 2007 (Consortium WTCCC/TASC, 2007), some replications occurred in studies involving Caucasian (Consortium TASC, 2010;Harvey, et al, 2009a;Maksymowych, W. P., et al, 2009;Pazar, et al, 2010;Pimentel-Santos, et al, 2009;Tsui, F. W., et al, 2010) and Han Chinese cohorts (Bang, et al, 2011;Choi, et al, 2010;Davidson, et al, 2009). The Wellcome Trust CaseControl consortium and Australo-Anglo-American Spondyloarthritis Consortium first described the association of five ERAP1 single nucleotide polymorphisms (SNPs) and AS (Consortium WTCCC/TASC, 2007), namely rs27044, rs17482078, rs10050860, rs30187 and rs2287987.…”

Section: Erap1/arts1mentioning

confidence: 99%

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Genetics in Ankylosing Spondylitis – Beyond HLA-B*27

Bettencourt¹,

Foroni²,

Couto³

et al. 2012

Clinical and Molecular Advances in Ankylosing Spondylitis

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Section: Erap1/arts1supporting

confidence: 50%

Section: Erap1/arts1mentioning

confidence: 99%

Genetics in Ankylosing Spondylitis – Beyond HLA-B*27

Bettencourt¹,

Foroni²,

Couto³

et al. 2012

Clinical and Molecular Advances in Ankylosing Spondylitis

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“…A literature search in the PubMed database resulted in the identification of 22 studies; 12 studies met the study inclusion criteria, including four studies from European populations and eight studies from Asian populations (two from Korean, six from Chinese populations), including the present study 9, 25, 26, 30, 31, 34, 35, 37, 38, 39, 40. Ten studies were excluded (seven studies due to lack of data and three studies having duplicate data).…”

Section: Resultsmentioning

confidence: 99%

“…The SNPs rs27037, rs27980 and rs27582 were reported to be in strong linkage disequilibrium (LD), as well as the SNPs rs30187 and rs27434 and the SNPs rs2549782 and rs2248374. Based on conflicting results in several studies 9, 10, 24, 25, 26, all sites were selected for the current study (Fig. 1).…”

Section: Methodsmentioning

confidence: 99%

ERAP1/ERAP2 and RUNX3 polymorphisms are not associated with ankylosing spondylitis susceptibility in Chinese Han

Liu

et al. 2018

Clinical and Experimental Immunology

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SummaryPrevious studies show that endoplasmic reticulum‐associated aminopeptidase (ERAP1/ERAP2) and runt‐related transcription factor 3 (RUNX3) gene polymorphisms are associated with AS (ankylosing spondylitis) in European Caucasians. However, contradictory results were reported in different Asian populations. The purpose of this study was to determine whether eleven candidate single nucleotide polymorphisms (SNPs) in ERAP1/ERAP2 and six in RUNX3 genes confer susceptibility to AS with or without acute anterior uveitis (AAU) [AS+AAU+ or AS+AAU–] in Chinese Han. Therefore, a case–control association study was performed in 882 AS+AAU–, 884 AS+AAU+ and 1727 healthy controls. Genotyping was performed using the iPLEXGold genotyping assay. A meta‐analysis was performed to assess the association of polymorphisms of ERAP1 with AS susceptibility in Asian populations. No association was found between SNPs of ERAP1/ERAP2/RUNX3 and susceptibility of AS with or without AAU. A case–control study between patients with human leucocyte antigen HLA‐B27‐positive and healthy controls also failed to demonstrate an association of the tested SNP with AS with or without AAU. Moreover, a meta‐analysis showed that there was no association of rs30187, rs27037, rs27980, rs27434 and rs27582 in ERAP1 with AS in Chinese Han. Taken together, 17 SNPs in ERAP1/ERAP2 and RUNX3 genes did not confer disease susceptibility to AS in Chinese Han.

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“…Despite this, studies have identified the combination of the major allele of rs30187 (coding for R528) and the minor allele at rs10050860 (coding for N575) being protective against AS (a fourfold reduction in AS risk) (2). In addition, haplotypes K528/D575/R725, K528/D575/E730, R528/D575/R725/E730, and K528/D575/R725/Q730 have been shown to be associated with AS (10)(11)(12). The in vitro assessment of single amino acid ERAP1 variants corresponding to the AS-associated SNPs revealed reduced trimming activity for R528, Q725, and E730 but not N575 (2,13,14).…”

mentioning

confidence: 99%

Functionally distinct ERAP1 allotype combinations distinguish individuals with Ankylosing Spondylitis

Reeves¹,

Colebatch-Bourn

Elliott

et al. 2014

Proc. Natl. Acad. Sci. U.S.A.

115

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For more than 40 y, expression of HLA-B27 has been strongly associated with the chronic inflammatory disease Ankylosing Spondylitis (AS); however, the mechanisms underlying this association are still unknown. Single nucleotide polymorphisms within the aminopeptidase endoplasmic reticulum aminopeptidase 1 (ERAP1), which is essential for trimming peptides before they are presented to T cells by major histocompatibility complex (MHC) class I molecules, have been linked with disease. We show that ERAP1 is a highly polymorphic molecule comprising allotypes of single nucleotide polymorphisms. The prevalence of specific ERAP1 allotypes is different between AS cases and controls. Both chromosomal copies of ERAP1 are codominantly expressed, and analysis of allotype pairs provided clear stratification of individuals with AS versus controls. Functional analyses demonstrated that ERAP1 allotype pairs seen in AS cases were poor at generating optimal peptide ligands for binding to murine H-2K b and -D b and the AS-associated HLA-B*2705. We therefore provide strong evidence that polymorphic ERAP1 alters protein function predisposing an individual to AS via its influence on the antigen processing pathway.

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ARTS1 polymorphisms are associated with ankylosing spondylitis in Koreans

Abstract: This is first confirmation in a non-Caucasian population that genetic polymorphisms in ARTS1 are associated with AS, implicating common pathogenetic mechanisms in Korean and Caucasian patients with AS.

Cited by 57 publications

References 16 publications

Genetics in Ankylosing Spondylitis – Beyond HLA-B*27

Genetics in Ankylosing Spondylitis – Beyond HLA-B*27

ERAP1/ERAP2 and RUNX3 polymorphisms are not associated with ankylosing spondylitis susceptibility in Chinese Han

Functionally distinct ERAP1 allotype combinations distinguish individuals with Ankylosing Spondylitis

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