Role of <i>IL6R</i> 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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MDPI AG
2022-09-01
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| Series: | Pharmaceutics |
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| Online Access: | https://www.mdpi.com/1999-4923/14/9/1942 |
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| author | Luis Sainz Pau Riera Patricia Moya Sara Bernal Jordi Casademont Cesar Díaz-Torné Ana Milena Millán Hye Sang Park Adriana Lasa Héctor Corominas |
| author_facet | Luis Sainz Pau Riera Patricia Moya Sara Bernal Jordi Casademont Cesar Díaz-Torné Ana Milena Millán Hye Sang Park Adriana Lasa Héctor Corominas |
| author_sort | Luis Sainz |
| collection | DOAJ |
| 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 <i>IL6R</i> gene could predict TCZ response in patients with RA. We retrospectively included 88 RA patients treated with TCZ. Six SNPs previously described in the <i>IL6R</i> 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 <i>IL6R</i> gene as predictive biomarkers for TCZ response. |
| first_indexed | 2024-03-09T22:49:45Z |
| format | Article |
| id | doaj.art-c77ef964cf5745659f5d71f8609ecbda |
| institution | Directory Open Access Journal |
| issn | 1999-4923 |
| language | English |
| last_indexed | 2024-03-09T22:49:45Z |
| publishDate | 2022-09-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Pharmaceutics |
| spelling | doaj.art-c77ef964cf5745659f5d71f8609ecbda2023-11-23T18:23:23ZengMDPI AGPharmaceutics1999-49232022-09-01149194210.3390/pharmaceutics14091942Role of <i>IL6R</i> Genetic Variants in Predicting Response to Tocilizumab in Patients with Rheumatoid ArthritisLuis Sainz0Pau Riera1Patricia Moya2Sara Bernal3Jordi Casademont4Cesar Díaz-Torné5Ana Milena Millán6Hye Sang Park7Adriana Lasa8Héctor Corominas9Rheumatology Department, Hospital de la Santa Creu i Sant Pau, 08041 Barcelona, SpainInstitut d’Investigació Biomèdica Sant Pau (IIB SANT PAU), 08041 Barcelona, SpainRheumatology Department, Hospital de la Santa Creu i Sant Pau, 08041 Barcelona, SpainInstitut d’Investigació Biomèdica Sant Pau (IIB SANT PAU), 08041 Barcelona, SpainDepartment of Medicine, Universitat Autònoma de Barcelona (UAB), 08193 Barcelona, SpainRheumatology Department, Hospital de la Santa Creu i Sant Pau, 08041 Barcelona, SpainRheumatology Department, Hospital de la Santa Creu i Sant Pau, 08041 Barcelona, SpainRheumatology Department, Hospital de la Santa Creu i Sant Pau, 08041 Barcelona, SpainInstitut d’Investigació Biomèdica Sant Pau (IIB SANT PAU), 08041 Barcelona, SpainRheumatology Department, Hospital de la Santa Creu i Sant Pau, 08041 Barcelona, SpainRheumatoid 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 <i>IL6R</i> gene could predict TCZ response in patients with RA. We retrospectively included 88 RA patients treated with TCZ. Six SNPs previously described in the <i>IL6R</i> 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 <i>IL6R</i> gene as predictive biomarkers for TCZ response.https://www.mdpi.com/1999-4923/14/9/1942<i>IL6R</i>genetic variantstocilizumabrheumatoid arthritispredictive factors |
| spellingShingle | Luis Sainz Pau Riera Patricia Moya Sara Bernal Jordi Casademont Cesar Díaz-Torné Ana Milena Millán Hye Sang Park Adriana Lasa Héctor Corominas Role of <i>IL6R</i> Genetic Variants in Predicting Response to Tocilizumab in Patients with Rheumatoid Arthritis Pharmaceutics <i>IL6R</i> genetic variants tocilizumab rheumatoid arthritis predictive factors |
| title | Role of <i>IL6R</i> Genetic Variants in Predicting Response to Tocilizumab in Patients with Rheumatoid Arthritis |
| title_full | Role of <i>IL6R</i> Genetic Variants in Predicting Response to Tocilizumab in Patients with Rheumatoid Arthritis |
| title_fullStr | Role of <i>IL6R</i> Genetic Variants in Predicting Response to Tocilizumab in Patients with Rheumatoid Arthritis |
| title_full_unstemmed | Role of <i>IL6R</i> Genetic Variants in Predicting Response to Tocilizumab in Patients with Rheumatoid Arthritis |
| title_short | Role of <i>IL6R</i> Genetic Variants in Predicting Response to Tocilizumab in Patients with Rheumatoid Arthritis |
| title_sort | role of i il6r i genetic variants in predicting response to tocilizumab in patients with rheumatoid arthritis |
| topic | <i>IL6R</i> genetic variants tocilizumab rheumatoid arthritis predictive factors |
| url | https://www.mdpi.com/1999-4923/14/9/1942 |
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