Yıl: 2022 Cilt: 47 Sayı: 4 Sayfa Aralığı: 465 - 473 Metin Dili: İngilizce DOI: 10.1515/tjb-2022-0007 İndeks Tarihi: 29-05-2023

Endoplasmic reticulum aminopeptidase-1 polymorphism increases the risk of rheumatoid arthritis

Öz:
Objectives: Endoplasmic reticulum aminopeptidase-1 (ERAP1) polymorphic changes cause autoimmunity. To understand the contribution of ERAP1 to the occurrence of rheumatoid arthritis (RA) disease, we investigated the relationship between ERAP1 and RA. Methods: This study was conducted with 201 patients and 171 healthy controls. The rs26653, rs27044, rs27582, rs28096, and rs30187 polymorphic regions of ERAP1 were investi- gated. The comparison was done with Arlequin software and logistic regression. Haplotypes were analyzed with Phylogenetic Network software. ERAP1 was modeled using Promod3. Topological changes in ERAP1 were analyzed with TM-Score. Results: The results showed that rs26653G>C (p=0.002, OR=2.001, 95%CI=1.276–3.137), rs27044C>G (p=0.037, OR=1.583, 95%CI=1.028–2.440), rs27582G>A (p<0.05, OR=0.348, 95%CI=0.194–0.622) and rs30187C>T (p=0.006, OR=1.849, 95%CI=1.191–2.870) polymorphisms are asso- ciated with RA disease risk. The relationship between rs28096 polymorphism and RA disease risk could not be determined (p=0.509). The risk haplotype for rheumatoid arthritis was determined as [CGAAT]. It was determined that polymorphisms of ERAP1 cause changes in the entry pocket of substrate and ligand. Conclusions: We report a haplotype [CGAAT] that is associated with RA risk from Turkey that has not been described before. These data will make important contri- butions to elucidating the molecular mechanism of RA.
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  • 1. Alamanos Y, Drosos AA. Epidemiology of adult rheumatoid arthritis. Autoimmun Rev 2005;4:130–6.
  • 2. Smolen J, Aletaha D, Barton A, Burmester G, Emery P, Firestein G, et al. Rheumatoid arthritis. Nat Rev Dis Prim 2018; 4:1–23.
  • 3. Okada Y, Kim K, Han B, Pillai N, Ong R, Saw W, et al. Risk for ACPA-positive rheumatoid arthritis is driven by shared HLA amino acid polymorphisms in Asian and European populations. Hum Mol Genet 2014;23:6916–26.
  • 4. Deane KD, Demoruelle MK, Kelmenson LB, Kuhn K, Norris J, Holers V. Genetic and environmental risk factors for rheumatoid arthritis. Best Pract Res Clin Rheumatol 2017;31:3–18.
  • 5. MacGregor AJ, Snieder H, Rigby AS, Koskenvuo M, Kaprio J, Aho K, et al. Characterizing the quantitative genetic contribution to rheumatoid arthritis using data from twins. Arthritis Rheum 2000;43:30–7.
  • 6. Bogunia-Kubik K, Świerkot J, Malak A, Wysoczańska B, Nowak B, Białowąs K, et al. IL-17A, IL-17F and IL-23R gene polymorphisms in Polish patients with rheumatoid arthritis. Arch Immunol Ther Exp 2015;63:215–21.
  • 7. Okada Y, Wu D, Trynka G, Raj T, Terao C, Ikari K, et al. Genetics of rheumatoid arthritis contributes to biology and drug discovery. Nature 2014;506:376–81.
  • 8. Kim JM, Kim HY. Pathogenesis of rheumatoid arthritis. J Korean Med Assoc 2010;53:853–61.
  • 9. Smolen JS, Aletaha D, McInnes IB. Rheumatoid arthritis. Lancet 2016;388:2023–38.
  • 10. Saric T, Chang SC, Hattori A, York I, Markant S, Rock K, et al. An IFN-γ-induced aminopeptidase in the ER, ERAP I, trims precursors to MHC class I-presented peptides. Nat Immunol 2002;3:1169–76.
  • 11. Haroon N, Inman RD. Endoplasmic reticulum aminopeptidases: biology and pathogenic potential. Nat Rev Rheumatol 2010;6:461–7.
  • 12. Evnouchidou I, Papakyriakou A, Stratikos E. A new role for Zn(II) aminopeptidases: antigenic peptide generation and destruction. Curr Pharmaceut Des 2009;15:3656–70.
  • 13. Mpakali A, Maben Z, Stern LJ, Stratikos E. Molecular pathways for antigenic peptide generation by ER aminopeptidase 1. Mol Immunol 2019;113:50–7.
  • 14. Stratikos E, Stamogiannos A, Zervoudi E, Fruci D. A role for naturally occurring alleles of endoplasmic reticulum aminopeptidases in tumor immunity and cancer predisposition. Front Oncol 2014;4:1–10.
  • 15. López de Castro JA, Alvarez-Navarro C, Brito A, Guasp P, Martín- Esteban A, Sanz-Bravo A. Molecular and pathogenic effects of endoplasmic reticulum aminopeptidases ERAP1 and ERAP2 in MHC-I-associated inflammatory disorders: towards a unifying view. Mol Immunol 2016;77:193–204.
  • 16. Gabriel S, Ziaugra L, Tabbaa D. SNP genotyping using the sequenom massarray iPLEX platform. Curr Protoc Hum Genet 2009;60:1–18.
  • 17. Chen VB, Arendall WB, Headd JJ, Keedy D, Immormino R, Kapral G, et al. MolProbity: all-atom structure validation for macromolecular crystallography. Acta Crystallogr Sect D Biol Crystallogr 2010;66:12–21.
  • 18. Wiederstein M, Sippl MJ. ProSA-web: interactive web service for the recognition of errors in three-dimensional structures of proteins. Nucleic Acids Res 2007;35:407–10.
  • 19. Zhang Y, Skolnick J. Scoring function for automated assessment of protein structure template quality. Proteins Struct Funct Genet 2004;57:702–10.
  • 20. Excoffier L, Laval G, Schneider S. Arlequin (version 3.0): an integrated software package for population genetics data analysis. Evol Bioinf Online 2005;1:47–50.
  • 21. Barrett JC, Fry B, Maller J, Daly M. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005;21: 263–65.
  • 22. Schneider S, Excoffier L. Estimation of past demographic parameters from the distribution of pairwise differences when the mutation rates vary among sites: application to human mitochondrial DNA. Genetics 1999;152:1079–89.
  • 23. Rogers AR. Genetic evidence for a pleistocene population explosion. Evolution 1995;49:608–15.
  • 24. Giastas P, Neu M, Rowland P, Stratikos E. High-Resolution crystal structure of endoplasmic reticulum aminopeptidase 1 with bound phosphinic transition-state analogue inhibitor. ACS Med Chem Lett 2019;10:708–13.
  • 25. Sui L, Gandhi A, Guo HC. Crystal structure of a polypeptide’s C-terminus in complex with the regulatory domain of ER aminopeptidase 1. Mol Immunol 2016;80:41–9.
  • 26. Stamogiannos A, Koumantou D, Papakyriakou A, Stratikos E. Effects of polymorphic variation on the mechanism of endoplasmic reticulum aminopeptidase 1. Mol Immunol 2015;67: 426–35.
  • 27. Harvey D, Pointon JJ, Evans DM, Karaderi T, Farrar C, Appleton L, et al. Investigating the genetic association between ERAP1 and ankylosing spondylitis. Hum Mol Genet 2009;18:4204–12.
  • 28. Guerini FR, Cagliani R, Forni D, Agliardi C, Caputo D, Cassinotti A, et al. A functional variant in ERAP1 predisposes to multiple sclerosis. PLoS One 2012;7:1–4.
  • 29. Gianchecchi E, Crinò A, Palma A, Luciano R, Perri V, Fruci D, et al. Case-control analysis of the ERAP1 polymorphism rs30187 in Italian type 1 diabetes mellitus patients. Health 2013;05:2150–5.
  • 30. Evnouchidou I, Momburg F, Papakyriakou A, Chroni A, Leondiadis L, Chang S, et al. The internal sequence of the peptide-substrate determines its N-terminus trimming by ERAP1. PLoS One 2008;3:1–12.
  • 31. Liddle J, Hutchinson JP, Kitchen S, Rowland P, Neu M, Cecconie T, et al. Targeting the regulatory site of ER aminopeptidase 1 leads to the discovery of a natural product modulator of antigen presentation. ACS Appl Mater Interfaces 2020;63:3348–58.
  • 32. Kochan G, Krojer T, Harvey D, Fischer R, Chen L, Vollmar M, et al. Crystal structures of the endoplasmic reticulum aminopeptidase-1 (ERAP1) reveal the molecular basis for N-terminal peptide trimming. Proc Natl Acad Sci U S A 2011;108:7745–50.
  • 33. Fu Y, Li X, Chen Y, Liu R, Wang R, Bai N. Association of ERAP1 gene polymorphisms with the susceptibility to psoriasis vulgaris a case–control study. Medicine 2018;97:1–5.
  • 34. Stawczyk-Macieja M, Szczerkowska-Dobosz A, Rebala K, Gabig- Ciminska M, Nowicki R, Haras A, et al. ERAP1 and HLA-C*06 are strongly associated with the risk of psoriasis in the population of northern Poland. Postepy Dermatol Alergol 2018;35: 286–92.
  • 35. Li C, Li Y, Yan Z, Dai S, Liu S, Wang X, et al. Polymorphisms in endoplasmic reticulum aminopeptidase genes are associated with cervical cancer risk in a Chinese Han population. BMC Cancer 2020;20:1–11.
  • 36. Zhang Z, Dai D, Yu K, Yuan F, Jin J, Ding L, et al. Association of HLA-B27 and ERAP1 with ankylosing spondylitis susceptibility in Beijing Han Chinese. Tissue Antigens 2014;83: 324–9.
  • 37. Dargahi H, Nicknam MH, Mirahmadian M, Mahmoudi M, Aslani S, Sadrosadat M, et al. Association study of single nucleotide polymorphisms of endoplasmic reticulum aminopeptidase 1 and 2 genes in Iranian women with preeclampsia. Iran J Public Health 2019;48:531–40.
  • 38. Schwerk J, Savan R. Translating the untranslated region. J Immunol 2015;195:2963–71.
  • 39. Harpending HC. Signature of ancient population growth in a low- resolution mitochondrial DNA mismatch distribution. Hum Biol 1994;66:591–600.
  • 40. Tajima F. Measurement of DNA polymorphism. In: Clark A G, Takahata N, editors Mechanisms of molecular evolution. Tokyo: Sinauer Associates; 1993. pp. 37–59.
  • The online version of this article offers supplementary material (https://doi.org/10.1515/tjb-2022-0007).
APA AKBULUT E, YILDIRIM T, Ozturk O (2022). Endoplasmic reticulum aminopeptidase-1 polymorphism increases the risk of rheumatoid arthritis. , 465 - 473. 10.1515/tjb-2022-0007
Chicago AKBULUT EKREM,YILDIRIM TÜLAY,Ozturk Onur Endoplasmic reticulum aminopeptidase-1 polymorphism increases the risk of rheumatoid arthritis. (2022): 465 - 473. 10.1515/tjb-2022-0007
MLA AKBULUT EKREM,YILDIRIM TÜLAY,Ozturk Onur Endoplasmic reticulum aminopeptidase-1 polymorphism increases the risk of rheumatoid arthritis. , 2022, ss.465 - 473. 10.1515/tjb-2022-0007
AMA AKBULUT E,YILDIRIM T,Ozturk O Endoplasmic reticulum aminopeptidase-1 polymorphism increases the risk of rheumatoid arthritis. . 2022; 465 - 473. 10.1515/tjb-2022-0007
Vancouver AKBULUT E,YILDIRIM T,Ozturk O Endoplasmic reticulum aminopeptidase-1 polymorphism increases the risk of rheumatoid arthritis. . 2022; 465 - 473. 10.1515/tjb-2022-0007
IEEE AKBULUT E,YILDIRIM T,Ozturk O "Endoplasmic reticulum aminopeptidase-1 polymorphism increases the risk of rheumatoid arthritis." , ss.465 - 473, 2022. 10.1515/tjb-2022-0007
ISNAD AKBULUT, EKREM vd. "Endoplasmic reticulum aminopeptidase-1 polymorphism increases the risk of rheumatoid arthritis". (2022), 465-473. https://doi.org/10.1515/tjb-2022-0007
APA AKBULUT E, YILDIRIM T, Ozturk O (2022). Endoplasmic reticulum aminopeptidase-1 polymorphism increases the risk of rheumatoid arthritis. Türk Biyokimya Dergisi, 47(4), 465 - 473. 10.1515/tjb-2022-0007
Chicago AKBULUT EKREM,YILDIRIM TÜLAY,Ozturk Onur Endoplasmic reticulum aminopeptidase-1 polymorphism increases the risk of rheumatoid arthritis. Türk Biyokimya Dergisi 47, no.4 (2022): 465 - 473. 10.1515/tjb-2022-0007
MLA AKBULUT EKREM,YILDIRIM TÜLAY,Ozturk Onur Endoplasmic reticulum aminopeptidase-1 polymorphism increases the risk of rheumatoid arthritis. Türk Biyokimya Dergisi, vol.47, no.4, 2022, ss.465 - 473. 10.1515/tjb-2022-0007
AMA AKBULUT E,YILDIRIM T,Ozturk O Endoplasmic reticulum aminopeptidase-1 polymorphism increases the risk of rheumatoid arthritis. Türk Biyokimya Dergisi. 2022; 47(4): 465 - 473. 10.1515/tjb-2022-0007
Vancouver AKBULUT E,YILDIRIM T,Ozturk O Endoplasmic reticulum aminopeptidase-1 polymorphism increases the risk of rheumatoid arthritis. Türk Biyokimya Dergisi. 2022; 47(4): 465 - 473. 10.1515/tjb-2022-0007
IEEE AKBULUT E,YILDIRIM T,Ozturk O "Endoplasmic reticulum aminopeptidase-1 polymorphism increases the risk of rheumatoid arthritis." Türk Biyokimya Dergisi, 47, ss.465 - 473, 2022. 10.1515/tjb-2022-0007
ISNAD AKBULUT, EKREM vd. "Endoplasmic reticulum aminopeptidase-1 polymorphism increases the risk of rheumatoid arthritis". Türk Biyokimya Dergisi 47/4 (2022), 465-473. https://doi.org/10.1515/tjb-2022-0007