Role of IL6R Genetic Variants in Predicting Response to Tocilizumab in Patients with Rheumatoid Arthritis

Rheumatoid arthritis (RA) is a prevalent autoimmune disease characterized by chronic arthritis that may lead to irreversible joint damage and significant disability. Patients with RA are commonly treated with Tocilizumab (TCZ), an IL-6 receptor (IL-6R) antagonist, but many patients refractorily resp...

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Autores: Sainz, Luis|||0000-0001-9249-1983, Riera, Pau|||0000-0002-3074-3927, Moya, Patricia|||0000-0001-8339-5420, Bernal, Sara|||0000-0003-4427-0574, Casademont i Pou, Jordi|||0000-0002-8100-1827, Diaz-Torne, Cesar|||0000-0001-6275-7699, Millán, Ana Milena, Park, Hye S.|||0000-0002-4972-9527, Lasa, Adriana|||0000-0001-9957-9646, Corominas, Hèctor|||0000-0002-7738-6787
Tipo de recurso: artículo
Fecha de publicación:2022
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:282418
Acceso en línea:https://ddd.uab.cat/record/282418
https://dx.doi.org/urn:doi:10.3390/pharmaceutics14091942
Access Level:acceso abierto
Palabra clave:Genetic variants
IL6R
Predictive factors
Rheumatoid arthritis
Tocilizumab
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spelling Role of IL6R Genetic Variants in Predicting Response to Tocilizumab in Patients with Rheumatoid ArthritisSainz, Luis|||0000-0001-9249-1983Riera, Pau|||0000-0002-3074-3927Moya, Patricia|||0000-0001-8339-5420Bernal, Sara|||0000-0003-4427-0574Casademont i Pou, Jordi|||0000-0002-8100-1827Diaz-Torne, Cesar|||0000-0001-6275-7699Millán, Ana MilenaPark, Hye S.|||0000-0002-4972-9527Lasa, Adriana|||0000-0001-9957-9646Corominas, Hèctor|||0000-0002-7738-6787Genetic variantsIL6RPredictive factorsRheumatoid arthritisTocilizumabRheumatoid arthritis (RA) is a prevalent autoimmune disease characterized by chronic arthritis that may lead to irreversible joint damage and significant disability. Patients with RA are commonly treated with Tocilizumab (TCZ), an IL-6 receptor (IL-6R) antagonist, but many patients refractorily respond to this therapy. Identifying genetic biomarkers as predictors of TCZ response could be a key to providing a personalized medicine strategy. We aimed to evaluate whether functional single nucleotide polymorphisms (SNPs) in the IL6R gene could predict TCZ response in patients with RA. We retrospectively included 88 RA patients treated with TCZ. Six SNPs previously described in the IL6R gene (rs12083537, rs11265618, rs4329505, rs2228145, rs4537545, and rs4845625) were genotyped in DNA samples from these patients. Using parametric tests, we evaluated the association between these polymorphisms and clinicopathological features. Responses to treatments were assessed at six months using three variables: a quantitative improvement in Disease activity score including 28 joints (DAS28), a satisfactory European League Against Rheumatism (EULAR) response, and low disease activity (LDA) achievement. The three response variables studied were associated with genetic variant rs4845625, and no association was found with the other five SNPs. Our findings support the potential clinical value of SNPs in the IL6R gene as predictive biomarkers for TCZ response.Universitat Autònoma de Barcelona 22022-01-0120222022-01-01Articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/282418https://dx.doi.org/urn:doi:10.3390/pharmaceutics14091942reponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengopen accesshttp://purl.org/coar/access_right/c_abf2Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:ddd.uab.cat:2824182026-06-06T12:50:31Z
dc.title.none.fl_str_mv Role of IL6R Genetic Variants in Predicting Response to Tocilizumab in Patients with Rheumatoid Arthritis
title Role of IL6R Genetic Variants in Predicting Response to Tocilizumab in Patients with Rheumatoid Arthritis
spellingShingle Role of IL6R Genetic Variants in Predicting Response to Tocilizumab in Patients with Rheumatoid Arthritis
Sainz, Luis|||0000-0001-9249-1983
Genetic variants
IL6R
Predictive factors
Rheumatoid arthritis
Tocilizumab
title_short Role of IL6R Genetic Variants in Predicting Response to Tocilizumab in Patients with Rheumatoid Arthritis
title_full Role of IL6R Genetic Variants in Predicting Response to Tocilizumab in Patients with Rheumatoid Arthritis
title_fullStr Role of IL6R Genetic Variants in Predicting Response to Tocilizumab in Patients with Rheumatoid Arthritis
title_full_unstemmed Role of IL6R Genetic Variants in Predicting Response to Tocilizumab in Patients with Rheumatoid Arthritis
title_sort Role of IL6R Genetic Variants in Predicting Response to Tocilizumab in Patients with Rheumatoid Arthritis
dc.creator.none.fl_str_mv Sainz, Luis|||0000-0001-9249-1983
Riera, Pau|||0000-0002-3074-3927
Moya, Patricia|||0000-0001-8339-5420
Bernal, Sara|||0000-0003-4427-0574
Casademont i Pou, Jordi|||0000-0002-8100-1827
Diaz-Torne, Cesar|||0000-0001-6275-7699
Millán, Ana Milena
Park, Hye S.|||0000-0002-4972-9527
Lasa, Adriana|||0000-0001-9957-9646
Corominas, Hèctor|||0000-0002-7738-6787
author Sainz, Luis|||0000-0001-9249-1983
author_facet Sainz, Luis|||0000-0001-9249-1983
Riera, Pau|||0000-0002-3074-3927
Moya, Patricia|||0000-0001-8339-5420
Bernal, Sara|||0000-0003-4427-0574
Casademont i Pou, Jordi|||0000-0002-8100-1827
Diaz-Torne, Cesar|||0000-0001-6275-7699
Millán, Ana Milena
Park, Hye S.|||0000-0002-4972-9527
Lasa, Adriana|||0000-0001-9957-9646
Corominas, Hèctor|||0000-0002-7738-6787
author_role author
author2 Riera, Pau|||0000-0002-3074-3927
Moya, Patricia|||0000-0001-8339-5420
Bernal, Sara|||0000-0003-4427-0574
Casademont i Pou, Jordi|||0000-0002-8100-1827
Diaz-Torne, Cesar|||0000-0001-6275-7699
Millán, Ana Milena
Park, Hye S.|||0000-0002-4972-9527
Lasa, Adriana|||0000-0001-9957-9646
Corominas, Hèctor|||0000-0002-7738-6787
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Universitat Autònoma de Barcelona
dc.subject.none.fl_str_mv Genetic variants
IL6R
Predictive factors
Rheumatoid arthritis
Tocilizumab
topic Genetic variants
IL6R
Predictive factors
Rheumatoid arthritis
Tocilizumab
description Rheumatoid arthritis (RA) is a prevalent autoimmune disease characterized by chronic arthritis that may lead to irreversible joint damage and significant disability. Patients with RA are commonly treated with Tocilizumab (TCZ), an IL-6 receptor (IL-6R) antagonist, but many patients refractorily respond to this therapy. Identifying genetic biomarkers as predictors of TCZ response could be a key to providing a personalized medicine strategy. We aimed to evaluate whether functional single nucleotide polymorphisms (SNPs) in the IL6R gene could predict TCZ response in patients with RA. We retrospectively included 88 RA patients treated with TCZ. Six SNPs previously described in the IL6R gene (rs12083537, rs11265618, rs4329505, rs2228145, rs4537545, and rs4845625) were genotyped in DNA samples from these patients. Using parametric tests, we evaluated the association between these polymorphisms and clinicopathological features. Responses to treatments were assessed at six months using three variables: a quantitative improvement in Disease activity score including 28 joints (DAS28), a satisfactory European League Against Rheumatism (EULAR) response, and low disease activity (LDA) achievement. The three response variables studied were associated with genetic variant rs4845625, and no association was found with the other five SNPs. Our findings support the potential clinical value of SNPs in the IL6R gene as predictive biomarkers for TCZ response.
publishDate 2022
dc.date.none.fl_str_mv 2
2022-01-01
2022
2022-01-01
dc.type.none.fl_str_mv Article
http://purl.org/coar/resource_type/c_6501
VoR
http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://ddd.uab.cat/record/282418
https://dx.doi.org/urn:doi:10.3390/pharmaceutics14091942
url https://ddd.uab.cat/record/282418
https://dx.doi.org/urn:doi:10.3390/pharmaceutics14091942
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Dipòsit Digital de Documents de la UAB
instname:Universitat Autònoma de Barcelona
instname_str Universitat Autònoma de Barcelona
reponame_str Dipòsit Digital de Documents de la UAB
collection Dipòsit Digital de Documents de la UAB
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