Skip to main content
Erschienen in: Clinical Rheumatology 5/2017

04.02.2017 | Brief Report

ERAP1 rs30187 single nucleotide polymorphism does not confer disease susceptibility in North Indian children with enthesitis-related arthritis

verfasst von: Rajni Srivastava, Sanat Phatak, Amita Aggarwal

Erschienen in: Clinical Rheumatology | Ausgabe 5/2017

Einloggen, um Zugang zu erhalten

Abstract

ERAP1 single nucleotide polymorphisms (SNP) are associated with ankylosing spondylitis. Data on ERAP1SNPs in juvenile idiopathic arthritis (JIA) is scarce. ERAP1 rs30187 SNP was shown to confer risk in the enthesitis-related arthritis (ERA) category of JIA. We examined the prevalence and association of this SNP in Indian children with ERA. SNPs in ERAP1 (rs30187) were genotyped in children with ERA (n = 271), ankylosing spondylitis (AS) (n = 213) and healthy controls (n = 101), using Taqman genotyping. Allele frequencies and genotype frequencies were calculated and compared using the Cochran Armitage test. Minor allele frequencies were 0.52 in ERA, 0.57 in AS, and 0.57 in healthy controls. Neither ERA nor AS patients showed significant association with this SNP. Segregating according to HLAB27 status did not alter the lack of association. rs30187 SNP in ERAP1 does not confer risk of developing ERA or AS in the Asian Indian population.
Literatur
1.
Zurück zum Zitat Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand WH, Samani NJ (2007) Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet 39(11):1329–1337CrossRefPubMed Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand WH, Samani NJ (2007) Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet 39(11):1329–1337CrossRefPubMed
2.
Zurück zum Zitat Haroon N, Inman RD (2010) Endoplasmic reticulum aminopeptidases: biology and pathogenic potential. Nat Rev Rheumatol 6(8):461–467CrossRefPubMed Haroon N, Inman RD (2010) Endoplasmic reticulum aminopeptidases: biology and pathogenic potential. Nat Rev Rheumatol 6(8):461–467CrossRefPubMed
3.
Zurück zum Zitat Lee YH, Song GG (2016) Associations between ERAP1 polymorphisms and susceptibility to ankylosing spondylitis: a meta-analysis. Clin Rheumatol 1–7 Lee YH, Song GG (2016) Associations between ERAP1 polymorphisms and susceptibility to ankylosing spondylitis: a meta-analysis. Clin Rheumatol 1–7
4.
Zurück zum Zitat Hinks A, Martin P, Flynn E, Eyre S, Packham J, Barton A, Worthington J, Thomson W (2011) Subtype specific genetic associations for juvenile idiopathic arthritis: ERAP1 with the enthesitis related arthritis subtype and IL23R with juvenile psoriatic arthritis. Arthritis research & therapy 13(1):1CrossRef Hinks A, Martin P, Flynn E, Eyre S, Packham J, Barton A, Worthington J, Thomson W (2011) Subtype specific genetic associations for juvenile idiopathic arthritis: ERAP1 with the enthesitis related arthritis subtype and IL23R with juvenile psoriatic arthritis. Arthritis research & therapy 13(1):1CrossRef
5.
Zurück zum Zitat Petty RE, Southwood TR, Manners P, Baum J, Glass DN, Goldenberg J, He X, Maldonado-Cocco J, Orozco-Alcala J, Prieur A-M (2004) International League of Associations for Rheumatology classification of juvenile idiopathic arthritis: second revision, Edmonton, 2001. J Rheumatol 31(2):390PubMed Petty RE, Southwood TR, Manners P, Baum J, Glass DN, Goldenberg J, He X, Maldonado-Cocco J, Orozco-Alcala J, Prieur A-M (2004) International League of Associations for Rheumatology classification of juvenile idiopathic arthritis: second revision, Edmonton, 2001. J Rheumatol 31(2):390PubMed
6.
7.
Zurück zum Zitat Tonks S, Marsh S, Bunce M, Bodmer J (1999) Molecular typing for HLA class I using ARMS-PCR: further developments following the 12th international histocompatibility workshop. Tissue Antigens 53(2):175–183CrossRefPubMed Tonks S, Marsh S, Bunce M, Bodmer J (1999) Molecular typing for HLA class I using ARMS-PCR: further developments following the 12th international histocompatibility workshop. Tissue Antigens 53(2):175–183CrossRefPubMed
8.
Zurück zum Zitat Cui X, Hawari F, Alsaaty S, Lawrence M, Combs CA, Geng W, Rouhani FN, Miskinis D, Levine SJ (2002) Identification of ARTS-1 as a novel TNFR1-binding protein that promotes TNFR1 ectodomain shedding. J Clin Invest 110(4):515–526CrossRefPubMedPubMedCentral Cui X, Hawari F, Alsaaty S, Lawrence M, Combs CA, Geng W, Rouhani FN, Miskinis D, Levine SJ (2002) Identification of ARTS-1 as a novel TNFR1-binding protein that promotes TNFR1 ectodomain shedding. J Clin Invest 110(4):515–526CrossRefPubMedPubMedCentral
9.
Zurück zum Zitat Goto Y, Hattori A, Ishii Y, Tsujimoto M (2006) Reduced activity of the hypertension-associated Lys528Arg mutant of human adipocyte-derived leucine aminopeptidase (A-LAP)/ER-aminopeptidase-1. FEBS Lett 580(7):1833–1838CrossRefPubMed Goto Y, Hattori A, Ishii Y, Tsujimoto M (2006) Reduced activity of the hypertension-associated Lys528Arg mutant of human adipocyte-derived leucine aminopeptidase (A-LAP)/ER-aminopeptidase-1. FEBS Lett 580(7):1833–1838CrossRefPubMed
10.
Zurück zum Zitat Maksymowych W, Inman R, Gladman D, Reeve J, Pope A, Rahman P (2009) Association of a specific ERAP1/ARTS1 haplotype with disease susceptibility in ankylosing spondylitis. Arthritis & Rheumatism 60(5):1317–1323CrossRef Maksymowych W, Inman R, Gladman D, Reeve J, Pope A, Rahman P (2009) Association of a specific ERAP1/ARTS1 haplotype with disease susceptibility in ankylosing spondylitis. Arthritis & Rheumatism 60(5):1317–1323CrossRef
11.
Zurück zum Zitat Choi C-B, Kim T-H, Jun J-B, Lee H-S, Shim SC, Lee B, Pope A, Uddin M, Rahman P, Inman RD (2009) ARTS1 polymorphisms are associated with ankylosing pondylitis in Koreans. Ann Rheum Dis Choi C-B, Kim T-H, Jun J-B, Lee H-S, Shim SC, Lee B, Pope A, Uddin M, Rahman P, Inman RD (2009) ARTS1 polymorphisms are associated with ankylosing pondylitis in Koreans. Ann Rheum Dis
12.
Zurück zum Zitat Zvyagin I, Dorodnykh VY, Mamedov I, Staroverov D, Bochkova A, Rebrikov D, Lebedev Y (2010) Association of ERAP1 allelic variants with risk of ankylosing spondylitis. Acta Naturae (англоязычная версия) 2(3):6 Zvyagin I, Dorodnykh VY, Mamedov I, Staroverov D, Bochkova A, Rebrikov D, Lebedev Y (2010) Association of ERAP1 allelic variants with risk of ankylosing spondylitis. Acta Naturae (англоязычная версия) 2(3):6
13.
Zurück zum Zitat Pazár B, Safrany E, Gergely P, Szántó S, Szekanecz Z, Poór G (2010) Association of ARTS1 gene polymorphisms with ankylosing spondylitis in the Hungarian population: the rs27044 variant is associated with HLA-B* 2705 subtype in Hungarian patients with ankylosing spondylitis. J Rheumatol 37(2):379–384CrossRefPubMed Pazár B, Safrany E, Gergely P, Szántó S, Szekanecz Z, Poór G (2010) Association of ARTS1 gene polymorphisms with ankylosing spondylitis in the Hungarian population: the rs27044 variant is associated with HLA-B* 2705 subtype in Hungarian patients with ankylosing spondylitis. J Rheumatol 37(2):379–384CrossRefPubMed
14.
Zurück zum Zitat Szczypiorska M, Sánchez A, Bartolomé N, Arteta D, Sanz J, Brito E, Fernández P, Collantes E, Martínez A, Tejedor D (2011) ERAP1 polymorphisms and haplotypes are associated with ankylosing spondylitis susceptibility and functional severity in a Spanish population. Rheumatology 50(11):1969–1975CrossRefPubMed Szczypiorska M, Sánchez A, Bartolomé N, Arteta D, Sanz J, Brito E, Fernández P, Collantes E, Martínez A, Tejedor D (2011) ERAP1 polymorphisms and haplotypes are associated with ankylosing spondylitis susceptibility and functional severity in a Spanish population. Rheumatology 50(11):1969–1975CrossRefPubMed
15.
Zurück zum Zitat Mahmoudi M, Jamshidi AR, Amirzargar AA, Farhadi E, Nourijelyani K, Fallahi S, Oraei M, Noori S, Nicknam MH (2012) Association between endoplasmic reticulum aminopeptidase-1 (ERAP-1) and susceptibility to ankylosing spondylitis in Iran. Iranian Journal of Allergy, Asthma and Immunology 11(4):294 Mahmoudi M, Jamshidi AR, Amirzargar AA, Farhadi E, Nourijelyani K, Fallahi S, Oraei M, Noori S, Nicknam MH (2012) Association between endoplasmic reticulum aminopeptidase-1 (ERAP-1) and susceptibility to ankylosing spondylitis in Iran. Iranian Journal of Allergy, Asthma and Immunology 11(4):294
16.
Zurück zum Zitat Bettencourt BF, Rocha FL, Alves H, Amorim R, Caetano-Lopes J, Vieira-Sousa E, Pimentel-Santos F, Lima M, Porto G, Branco JC (2013) Protective effect of an ERAP1 haplotype in ankylosing spondylitis: investigating non-MHC genes in HLA-B27-positive individuals. Rheumatology 52(12):2168–2176CrossRefPubMed Bettencourt BF, Rocha FL, Alves H, Amorim R, Caetano-Lopes J, Vieira-Sousa E, Pimentel-Santos F, Lima M, Porto G, Branco JC (2013) Protective effect of an ERAP1 haplotype in ankylosing spondylitis: investigating non-MHC genes in HLA-B27-positive individuals. Rheumatology 52(12):2168–2176CrossRefPubMed
17.
Zurück zum Zitat Cinar M, Akar H, Yilmaz S, Simsek I, Karkucak M, Sagkan RI, Pekel A, Erdem H, Avci IY, Acikel C (2013) A polymorphism in ERAP1 is associated with susceptibility to ankylosing spondylitis in a Turkish population. Rheumatol Int 33(11):2851–2858CrossRefPubMed Cinar M, Akar H, Yilmaz S, Simsek I, Karkucak M, Sagkan RI, Pekel A, Erdem H, Avci IY, Acikel C (2013) A polymorphism in ERAP1 is associated with susceptibility to ankylosing spondylitis in a Turkish population. Rheumatol Int 33(11):2851–2858CrossRefPubMed
18.
Zurück zum Zitat Kunjir V, Venugopalan A, Chopra A (2010) Profile of Indian patients with juvenile onset chronic inflammatory joint disease using the ILAR classification criteria for JIA: a community-based cohort study. J Rheumatol 37(8):1756–1762. doi:10.3899/jrheum.090937 CrossRefPubMed Kunjir V, Venugopalan A, Chopra A (2010) Profile of Indian patients with juvenile onset chronic inflammatory joint disease using the ILAR classification criteria for JIA: a community-based cohort study. J Rheumatol 37(8):1756–1762. doi:10.​3899/​jrheum.​090937 CrossRefPubMed
19.
Zurück zum Zitat Evans DM, Spencer CC, Pointon JJ, Su Z, Harvey D, Kochan G, Oppermann U, Dilthey A, Pirinen M, Stone MA (2011) Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. Nat Genet 43(8):761–767CrossRefPubMedPubMedCentral Evans DM, Spencer CC, Pointon JJ, Su Z, Harvey D, Kochan G, Oppermann U, Dilthey A, Pirinen M, Stone MA (2011) Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. Nat Genet 43(8):761–767CrossRefPubMedPubMedCentral
20.
Zurück zum Zitat Kenna T, Lau M, Keith P, Ciccia F, Costello M, Bradbury L, Low P, Agrawal N, Triolo G, Alessandro R (2015) Disease-associated polymorphisms in ERAP1 do not alter endoplasmic reticulum stress in patients with ankylosing spondylitis. Genes and immunity 16(1):35–42CrossRefPubMed Kenna T, Lau M, Keith P, Ciccia F, Costello M, Bradbury L, Low P, Agrawal N, Triolo G, Alessandro R (2015) Disease-associated polymorphisms in ERAP1 do not alter endoplasmic reticulum stress in patients with ankylosing spondylitis. Genes and immunity 16(1):35–42CrossRefPubMed
21.
Zurück zum Zitat Chen L, Ridley A, Hammitzsch A, Al-Mossawi MH, Bunting H, Georgiadis D, Chan A, Kollnberger S, Bowness P (2015) Silencing or inhibition of endoplasmic reticulum aminopeptidase 1 (ERAP1) suppresses free heavy chain expression and Th17 responses in ankylosing spondylitis. Ann Rheum Dis 2014–206996 Chen L, Ridley A, Hammitzsch A, Al-Mossawi MH, Bunting H, Georgiadis D, Chan A, Kollnberger S, Bowness P (2015) Silencing or inhibition of endoplasmic reticulum aminopeptidase 1 (ERAP1) suppresses free heavy chain expression and Th17 responses in ankylosing spondylitis. Ann Rheum Dis 2014–206996
22.
Zurück zum Zitat Zhang Z, Dai D, Yu K, Yuan F, Jin J, Ding L, Hao Y, Liang F, Liu N, Zhao X (2014) Association of HLA-B27 and ERAP1 with ankylosing spondylitis susceptibility in Beijing Han Chinese. Tissue Antigens 83(5):324–329CrossRefPubMed Zhang Z, Dai D, Yu K, Yuan F, Jin J, Ding L, Hao Y, Liang F, Liu N, Zhao X (2014) Association of HLA-B27 and ERAP1 with ankylosing spondylitis susceptibility in Beijing Han Chinese. Tissue Antigens 83(5):324–329CrossRefPubMed
23.
Zurück zum Zitat Wang C-M, Ho H-H, Chang S-W, Wu Y-JJ, Lin J-C, Chang P-Y, Wu J, Chen J-Y (2012) ERAP1 genetic variations associated with HLA-B27 interaction and disease severity of syndesmophytes formation in Taiwanese ankylosing spondylitis. Arthritis research & therapy 14(3):1 Wang C-M, Ho H-H, Chang S-W, Wu Y-JJ, Lin J-C, Chang P-Y, Wu J, Chen J-Y (2012) ERAP1 genetic variations associated with HLA-B27 interaction and disease severity of syndesmophytes formation in Taiwanese ankylosing spondylitis. Arthritis research & therapy 14(3):1
24.
Zurück zum Zitat Bang S-Y, Kim T-H, Lee B, Kwon E, Choi SH, Lee KS, Shim SC, Pope A, Rahman P, Reveille JD (2011) Genetic studies of ankylosing spondylitis in Koreans confirm associations with ERAP1 and 2p15 reported in white patients. J Rheumatol 38(2):322–324CrossRefPubMed Bang S-Y, Kim T-H, Lee B, Kwon E, Choi SH, Lee KS, Shim SC, Pope A, Rahman P, Reveille JD (2011) Genetic studies of ankylosing spondylitis in Koreans confirm associations with ERAP1 and 2p15 reported in white patients. J Rheumatol 38(2):322–324CrossRefPubMed
25.
Zurück zum Zitat Davidson SI, Wu X, Liu Y, Wei M, Danoy PA, Thomas G, Cai Q, Sun L, Duncan E, Wang N (2009) Association of ERAP1, but not IL23R, with ankylosing spondylitis in a Han Chinese population. Arthritis & Rheumatism 60(11):3263–3268CrossRef Davidson SI, Wu X, Liu Y, Wei M, Danoy PA, Thomas G, Cai Q, Sun L, Duncan E, Wang N (2009) Association of ERAP1, but not IL23R, with ankylosing spondylitis in a Han Chinese population. Arthritis & Rheumatism 60(11):3263–3268CrossRef
Metadaten
Titel
ERAP1 rs30187 single nucleotide polymorphism does not confer disease susceptibility in North Indian children with enthesitis-related arthritis
verfasst von
Rajni Srivastava
Sanat Phatak
Amita Aggarwal
Publikationsdatum
04.02.2017
Verlag
Springer London
Erschienen in
Clinical Rheumatology / Ausgabe 5/2017
Print ISSN: 0770-3198
Elektronische ISSN: 1434-9949
DOI
https://doi.org/10.1007/s10067-017-3560-6

Weitere Artikel der Ausgabe 5/2017

Clinical Rheumatology 5/2017 Zur Ausgabe

Leitlinien kompakt für die Innere Medizin

Mit medbee Pocketcards sicher entscheiden.

Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag

Update Innere Medizin

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.