ERAP1 c.2174G>C ;(p.R725P)

Variant ID: 5-96118866-C-G

NM_001040458.1(ERAP1):c.2174G>C;(p.R725P)

This variant was identified in 26 publications

View GRCh38 version.




Publications:


Uncovering the Underworld of Axial Spondyloarthritis.

International Journal Of Molecular Sciences
Del Vescovo, Sergio S; Venerito, Vincenzo V; Iannone, Claudia C; Lopalco, Giuseppe G
Publication Date: 2023-03-30

Variant appearance in text: rs17482078
PubMed Link: 37047435
Variant Present in the following documents:
  • Main text
  • ijms-24-06463.pdf
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A Darwinian View of Behçet's Disease.

Rheumatology And Immunology Research
Smith, Rhodri R; Moots, Robert J RJ; Murad, Mariam M; Wallace, Graham R GR
Publication Date: 2021-06

Variant appearance in text: rs17482078
PubMed Link: 36465976
Variant Present in the following documents:
  • Main text
  • rir-02-091.pdf
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Joint together: The etiology and pathogenesis of ankylosing spondylitis.

Frontiers In Immunology
Xiong, Yuehan Y; Cai, Menghua M; Xu, Yi Y; Dong, Peng P; Chen, Hui H; He, Wei W; Zhang, Jianmin J
Publication Date: 2022

Variant appearance in text: rs17482078
PubMed Link: 36325352
Variant Present in the following documents:
  • fimmu-13-996103.pdf
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EnRAPtured: Is Endoplasmic Reticulum Aminopeptidase a New Clue to the Pathogenesis and ThERAPy of Uveitis?

Ophthalmology Science
Rosenbaum, James T JT; Gill, Tejpal T; Martin, Tammy M TM
Publication Date: 2021-09

Variant appearance in text: rs17482078
PubMed Link: 36247819
Variant Present in the following documents:
  • main.pdf
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Progress in the genetics of uveitis.

Genes And Immunity
Huang, Xiu-Feng XF; Brown, Matthew A MA
Publication Date: 2022-04

Variant appearance in text: rs17482078
PubMed Link: 35379982
Variant Present in the following documents:
  • Main text
  • 41435_2022_Article_168.pdf
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Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.

Nature Neuroscience
Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C
Publication Date: 2021-09

Variant appearance in text: rs17482078
PubMed Link: 34239129
Variant Present in the following documents:
  • Main text
  • nihms-1711548.pdf
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Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.

Nature Neuroscience
Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C
Publication Date: 2021-09

Variant appearance in text: rs17482078
PubMed Link: 34239129
Variant Present in the following documents:
  • Main text
  • nihms-1711548.pdf
View BVdb publication page



Pathogenesis of Non-Infectious Uveitis Elucidated by Recent Genetic Findings.

Frontiers In Immunology
Takeuchi, Masaki M; Mizuki, Nobuhisa N; Ohno, Shigeaki S
Publication Date: 2021

Variant appearance in text: rs17482078
PubMed Link: 33912164
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of Behçet's Disease: Functional Genetic Analysis and Estimating Disease Heritability.

Frontiers In Medicine
Ortiz-Fernández, Lourdes L; Sawalha, Amr H AH
Publication Date: 2021

Variant appearance in text: rs17482078
PubMed Link: 33644100
Variant Present in the following documents:
  • Main text
  • fmed-08-625710.pdf
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Interaction between ERAP Alleles and HLA Class I Types Support a Role of Antigen Presentation in Hodgkin Lymphoma Development.

Cancers
Jiang, Peijia P; Veenstra, Rianne N RN; Seitz, Annika A; Nolte, Ilja M IM; Hepkema, Bouke G BG; Visser, Lydia L; van den Berg, Anke A; Diepstra, Arjan A
Publication Date: 2021-01-22

Variant appearance in text: rs17482078
PubMed Link: 33499248
Variant Present in the following documents:
  • Main text
  • cancers-13-00414.pdf
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Association of ERAP2 polymorphisms in Colombian HLA-B27+ or HLA-B15+ patients with SpA and its relationship with clinical presentation: axial or peripheral predominance.

Rmd Open
Londono, John J; Santos, Ana M AM; Rueda, Juan C JC; Calvo-Paramo, Enrique E; Burgos-Vargas, Ruben R; Vargas-Alarcon, Gilberto G; Martinez-Rodriguez, Nancy N; Arias-Correal, Sofia S; Muñoz, Guisselle-Nathalia GN; Padilla, Diana D; Cuervo, Francy F; Reyes-Martinez, Viviana V; Bernal-Macías, Santiago S; Villota-Eraso, Catalina C; Avila-Portillo, Luz M LM; Romero, Consuelo C; Medina, Juan F JF
Publication Date: 2020-09

Variant appearance in text: rs17482078
PubMed Link: 32917832
Variant Present in the following documents:
  • Main text
  • rmdopen-2020-001250.pdf
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An Overview on ERAP Roles in Infectious Diseases.

Cells
Saulle, Irma I; Vicentini, Chiara C; Clerici, Mario M; Biasin, Mara M
Publication Date: 2020-03-14

Variant appearance in text: rs17482078
PubMed Link: 32183384
Variant Present in the following documents:
  • Main text
  • cells-09-00720.pdf
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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs17482078
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
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Association between IL23R and ERAP1 polymorphisms and sacroiliac or spinal MRI inflammation in spondyloarthritis: DESIR cohort data.

Arthritis Research & Therapy
Ruyssen-Witrand, Adeline A; Luxembourger, Cécile C; Cantagrel, Alain A; Nigon, Delphine D; Claudepierre, Pascal P; Degboe, Yannick Y; Constantin, Arnaud A
Publication Date: 2019-01-15

Variant appearance in text: rs17482078
PubMed Link: 30646942
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics and Functional Genomics of Spondyloarthritis.

Frontiers In Immunology
Costantino, Félicie F; Breban, Maxime M; Garchon, Henri-Jean HJ
Publication Date: 2018

Variant appearance in text: rs17482078
PubMed Link: 30619293
Variant Present in the following documents:
  • Main text
View BVdb publication page



Associations between ERAP1 polymorphisms and susceptibility to ankylosing spondylitis: A meta-analysis of East Asian Population.

Medicine
Jiang, Yuqing Y; Ren, Yi Y; Zhou, Dong D; Xu, Youjia Y
Publication Date: 2018-11

Variant appearance in text: rs17482078
PubMed Link: 30461632
Variant Present in the following documents:
  • Main text
  • medi-97-e13263.pdf
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Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis.

Human Molecular Genetics
Kuiper, Jonas J W JJW; Setten, Jessica van JV; Devall, Matthew M; Cretu-Stancu, Mircea M; Hiddingh, Sanne S; Ophoff, Roel A RA; Missotten, Tom O A R TOAR; Velthoven, Mirjam van MV; Den Hollander, Anneke I AI; Hoyng, Carel B CB; James, Edward E; Reeves, Emma E; Cordero-Coma, Miguel M; Fonollosa, Alejandro A; Adán, Alfredo A; Martín, Javier J; Koeleman, Bobby P C BPC; Boer, Joke H de JH; Pulit, Sara L SL; Márquez, Ana A; Radstake, Timothy R D J TRDJ
Publication Date: 2018-12-15

Variant appearance in text: rs17482078
PubMed Link: 30215709
Variant Present in the following documents:
  • Main text
  • ddy319.pdf
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Bayesian Network Construction and Genotype-Phenotype Inference Using GWAS Statistics.

Ieee/Acm Transactions On Computational Biology And Bioinformatics
Zhang, Lu L; Pan, Qiuping Q; Wang, Yue Y; Wu, Xintao X; Shi, Xinghua X
Publication Date: 2019

Variant appearance in text: rs17482078
PubMed Link: 29990020
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene Variation of Endoplasmic Reticulum Aminopeptidases 1 and 2, and Risk of Blood Pressure Progression and Incident Hypertension among 17,255 Initially Healthy Women.

International Journal Of Genomics
Zee, Robert Y L RYL; Rivera, Alicia A; Inostroza, Yaritza Y; Ridker, Paul M PM; Chasman, Daniel I DI; Romero, Jose R JR
Publication Date: 2018

Variant appearance in text: rs17482078
PubMed Link: 29850473
Variant Present in the following documents:
  • Main text
  • IJG2018-2308585.pdf
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Behçet's disease risk association fine-mapped on the IL23R-IL12RB2 intergenic region in Koreans.

Arthritis Research & Therapy
Kang, Eun Ha EH; Kim, Sewon S; Park, Min Young MY; Choi, Ji Yong JY; Choi, In Ah IA; Kim, Min Jung MJ; Ha, You-Jung YJ; Lee, Eun Young EY; Lee, Yun Jong YJ; Lee, Eun Bong EB; Kang, Changwon C; Song, Yeong Wook YW
Publication Date: 2017-10-10

Variant appearance in text: rs17482078
PubMed Link: 29017598
Variant Present in the following documents:
  • Main text
  • 13075_2017_Article_1435.pdf
View BVdb publication page



Connecting genetic risk to disease end points through the human blood plasma proteome.

Nature Communications
Suhre, Karsten K; Arnold, Matthias M; Bhagwat, Aditya Mukund AM; Cotton, Richard J RJ; Engelke, Rudolf R; Raffler, Johannes J; Sarwath, Hina H; Thareja, Gaurav G; Wahl, Annika A; DeLisle, Robert Kirk RK; Gold, Larry L; Pezer, Marija M; Lauc, Gordan G; El-Din Selim, Mohammed A MA; Mook-Kanamori, Dennis O DO; Al-Dous, Eman K EK; Mohamoud, Yasmin A YA; Malek, Joel J; Strauch, Konstantin K; Grallert, Harald H; Peters, Annette A; Kastenmüller, Gabi G; Gieger, Christian C; Graumann, Johannes J
Publication Date: 2017-02-27

Variant appearance in text: rs17482078
PubMed Link: 28240269
Variant Present in the following documents:
  • Main text
View BVdb publication page



High-throughput allele-specific expression across 250 environmental conditions.

Genome Research
Moyerbrailean, Gregory A GA; Richards, Allison L AL; Kurtz, Daniel D; Kalita, Cynthia A CA; Davis, Gordon O GO; Harvey, Chris T CT; Alazizi, Adnan A; Watza, Donovan D; Sorokin, Yoram Y; Hauff, Nancy N; Zhou, Xiang X; Wen, Xiaoquan X; Pique-Regi, Roger R; Luca, Francesca F
Publication Date: 2016-12

Variant appearance in text: rs17482078
PubMed Link: 27934696
Variant Present in the following documents:
  • supp_gr.209759.116_Supplemental_Materials.pdf
View BVdb publication page



Methodology for single nucleotide polymorphism selection in promoter regions for clinical use. An example of its applicability.

International Journal Of Molecular Epidemiology And Genetics
Marques, Herlander H; Freitas, José J; Medeiros, Rui R; Longatto-Filho, Adhemar A
Publication Date: 2016

Variant appearance in text: rs17482078
PubMed Link: 27766139
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs17482078
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Silencing or inhibition of endoplasmic reticulum aminopeptidase 1 (ERAP1) suppresses free heavy chain expression and Th17 responses in ankylosing spondylitis.

Annals Of The Rheumatic Diseases
Chen, Liye L; Ridley, Anna A; Hammitzsch, Ariane A; Al-Mossawi, Mohammad Hussein MH; Bunting, Helen H; Georgiadis, Dimitris D; Chan, Antoni A; Kollnberger, Simon S; Bowness, Paul P
Publication Date: 2016-05

Variant appearance in text: rs17482078
PubMed Link: 26130142
Variant Present in the following documents:
  • Main text
View BVdb publication page



Significant association between insertion/deletion polymorphism of the angiotensin-convertig enzyme gene and ankylosing spondylitis.

Molecular Vision
Inanır, Ahmet A; Yigit, Serbulent S; Tural, Sengul S; Ozturk, Sibel Demir SD; Akkanet, Songul S; Habiboğlu, Abdulkadir A
Publication Date: 2012

Variant appearance in text: rs17482078
PubMed Link: 22876137
Variant Present in the following documents:
  • Main text
  • mv-v18-2107.pdf
View BVdb publication page



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

Nature Genetics
, ; , ; Burton, Paul R PR; Clayton, David G DG; Cardon, Lon R LR; Craddock, Nick N; Deloukas, Panos P; Duncanson, Audrey A; Kwiatkowski, Dominic P DP; McCarthy, Mark I MI; Ouwehand, Willem H WH; Samani, Nilesh J NJ; Todd, John A JA; Donnelly, Peter P; Barrett, Jeffrey C JC; Davison, Dan D; Easton, Doug D; Evans, David M DM; Leung, Hin-Tak HT; Marchini, Jonathan L JL; Morris, Andrew P AP; Spencer, Chris C A CC; Tobin, Martin D MD; Attwood, Antony P AP; Boorman, James P JP; Cant, Barbara B; Everson, Ursula U; Hussey, Judith M JM; Jolley, Jennifer D JD; Knight, Alexandra S AS; Koch, Kerstin K; Meech, Elizabeth E; Nutland, Sarah S; Prowse, Christopher V CV; Stevens, Helen E HE; Taylor, Niall C NC; Walters, Graham R GR; Walker, Neil M NM; Watkins, Nicholas A NA; Winzer, Thilo T; Jones, Richard W RW; McArdle, Wendy L WL; Ring, Susan M SM; Strachan, David P DP; Pembrey, Marcus M; Breen, Gerome G; St Clair, David D; Caesar, Sian S; Gordon-Smith, Katharine K; Jones, Lisa L; Fraser, Christine C; Green, Elaine K EK; Grozeva, Detelina D; Hamshere, Marian L ML; Holmans, Peter A PA; Jones, Ian R IR; Kirov, George G; Moskivina, Valentina V; Nikolov, Ivan I; O'Donovan, Michael C MC; Owen, Michael J MJ; Collier, David A DA; Elkin, Amanda A; Farmer, Anne A; Williamson, Richard R; McGuffin, Peter P; Young, Allan H AH; Ferrier, I Nicol IN; Ball, Stephen G SG; Balmforth, Anthony J AJ; Barrett, Jennifer H JH; Bishop, Timothy D TD; Iles, Mark M MM; Maqbool, Azhar A; Yuldasheva, Nadira N; Hall, Alistair S AS; Braund, Peter S PS; Dixon, Richard J RJ; Mangino, Massimo M; Stevens, Suzanne S; Thompson, John R JR; Bredin, Francesca F; Tremelling, Mark M; Parkes, Miles M; Drummond, Hazel H; Lees, Charles W CW; Nimmo, Elaine R ER; Satsangi, Jack J; Fisher, Sheila A SA; Forbes, Alastair A; Lewis, Cathryn M CM; Onnie, Clive M CM; Prescott, Natalie J NJ; Sanderson, Jeremy J; Matthew, Christopher G CG; Barbour, Jamie J; Mohiuddin, M Khalid MK; Todhunter, Catherine E CE; Mansfield, John C JC; Ahmad, Tariq T; Cummings, Fraser R FR; Jewell, Derek P DP; Webster, John J; Brown, Morris J MJ; Lathrop, Mark G MG; Connell, John J; Dominiczak, Anna A; Marcano, Carolina A Braga CA; Burke, Beverley B; Dobson, Richard R; Gungadoo, Johannie J; Lee, Kate L KL; Munroe, Patricia B PB; Newhouse, Stephen J SJ; Onipinla, Abiodun A; Wallace, Chris C; Xue, Mingzhan M; Caulfield, Mark M; Farrall, Martin M; Barton, Anne A; , ; Bruce, Ian N IN; Donovan, Hannah H; Eyre, Steve S; Gilbert, Paul D PD; Hilder, Samantha L SL; Hinks, Anne M AM; John, Sally L SL; Potter, Catherine C; Silman, Alan J AJ; Symmons, Deborah P M DP; Thomson, Wendy W; Worthington, Jane J; Dunger, David B DB; Widmer, Barry B; Frayling, Timothy M TM; Freathy, Rachel M RM; Lango, Hana H; Perry, John R B JR; Shields, Beverley M BM; Weedon, Michael N MN; Hattersley, Andrew T AT; Hitman, Graham A GA; Walker, Mark M; Elliott, Kate S KS; Groves, Christopher J CJ; Lindgren, Cecilia M CM; Rayner, Nigel W NW; Timpson, Nicolas J NJ; Zeggini, Eleftheria E; Newport, Melanie M; Sirugo, Giorgio G; Lyons, Emily E; Vannberg, Fredrik F; Hill, Adrian V S AV; Bradbury, Linda A LA; Farrar, Claire C; Pointon, Jennifer J JJ; Wordsworth, Paul P; Brown, Matthew A MA; Franklyn, Jayne A JA; Heward, Joanne M JM; Simmonds, Matthew J MJ; Gough, Stephen C L SC; Seal, Sheila S; , ; Stratton, Michael R MR; Rahman, Nazneen N; Ban, Maria M; Goris, An A; Sawcer, Stephen J SJ; Compston, Alastair A; Conway, David D; Jallow, Muminatou M; Newport, Melanie M; Sirugo, Giorgio G; Rockett, Kirk A KA; Bumpstead, Suzannah J SJ; Chaney, Amy A; Downes, Kate K; Ghori, Mohammed J R MJ; Gwilliam, Rhian R; Hunt, Sarah E SE; Inouye, Michael M; Keniry, Andrew A; King, Emma E; McGinnis, Ralph R; Potter, Simon S; Ravindrarajah, Rathi R; Whittaker, Pamela P; Widden, Claire C; Withers, David D; Cardin, Niall J NJ; Davison, Dan D; Ferreira, Teresa T; Pereira-Gale, Joanne J; Hallgrimsdo'ttir, Ingeleif B IB; Howie, Bryan N BN; Su, Zhan Z; Teo, Yik Ying YY; Vukcevic, Damjan D; Bentley, David D; Brown, Matthew A MA; Compston, Alastair A; Farrall, Martin M; Hall, Alistair S AS; Hattersley, Andrew T AT; Hill, Adrian V S AV; Parkes, Miles M; Pembrey, Marcus M; Stratton, Michael R MR; Mitchell, Sarah L SL; Newby, Paul R PR; Brand, Oliver J OJ; Carr-Smith, Jackie J; Pearce, Simon H S SH; McGinnis, R R; Keniry, A A; Deloukas, P P; Reveille, John D JD; Zhou, Xiaodong X; Sims, Anne-Marie AM; Dowling, Alison A; Taylor, Jacqueline J; Doan, Tracy T; Davis, John C JC; Savage, Laurie L; Ward, Michael M MM; Learch, Thomas L TL; Weisman, Michael H MH; Brown, Mathew M
Publication Date: 2007-11

Variant appearance in text: rs17482078
PubMed Link: 17952073
Variant Present in the following documents:
  • Main text
View BVdb publication page