TNFAIP3 F127C Coding Variation in Greek Primary Sjogren’s Syndrome Patients
Tumor necrosis factor, alpha-induced protein 3 (TNFAIP3) gene encodes the A20 protein, an important negative feedback regulator of the nuclear factor kappa-light-chain-enhancer of activated B cell (NF-κB) pathway. A coding TNFAIP3 variant, namely rs2230926, has been previously linked to B cell non-H...
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | Journal of Immunology Research |
| Online Access: | http://dx.doi.org/10.1155/2018/6923213 |
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| author | Adrianos Nezos Eliona Gkioka Michael Koutsilieris Michael Voulgarelis Athanasios G. Tzioufas Clio P. Mavragani |
| author_facet | Adrianos Nezos Eliona Gkioka Michael Koutsilieris Michael Voulgarelis Athanasios G. Tzioufas Clio P. Mavragani |
| author_sort | Adrianos Nezos |
| collection | DOAJ |
| description | Tumor necrosis factor, alpha-induced protein 3 (TNFAIP3) gene encodes the A20 protein, an important negative feedback regulator of the nuclear factor kappa-light-chain-enhancer of activated B cell (NF-κB) pathway. A coding TNFAIP3 variant, namely rs2230926, has been previously linked to B cell non-Hodgkin’s lymphoma (NHL) development in patients with Sjogren’s syndrome (SS) of French and UK origin. Herein, we aimed to determine the prevalence of rs2230926 in a Greek primary SS cohort and explore possible associations with disease characteristics. The rs2230926 gene variant was genotyped in 327 primary Greek SS patients (ninety-one complicated by NHL (SS-lymphoma)) and 448 Greek healthy controls (HC) of similar age and sex distribution. Clinical and laboratory characteristics were also recorded and gene expression of relevant genes of the NF-κB pathway was quantitated by real-time PCR in available whole peripheral blood (PB) from 165 primary SS patients. Increased prevalence of the rs2230926 mutant variant was detected in both SS-lymphoma and SS-nonlymphoma subgroups compared to HC (8.8% vs. 7.6% vs. 3.6%, p values: 0.04 and 0.03, respectively) in association with higher IgM, LDH serum levels, and PB Bcl-XL transcripts but lower leucocyte and neutrophil counts. Of interest, approximately one-fifth of SS-lymphoma cases with age at disease onset ≤ 40 years carried the rs2230926 variant (18.2% vs. 3.6%, OR 95% (CI): 6.0 (1.8–19.8), p value: 0.01). We postulate that deregulation of the NF-κB pathway as a result of the TNFAIP3 rs2230926 aberration increases SS and SS lymphoma susceptibility particularly in patients with early disease onset. |
| format | Article |
| id | doaj-art-736dc0524f5f455abf36e51d7aeb4d2a |
| institution | Kabale University |
| issn | 2314-8861 2314-7156 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of Immunology Research |
| spelling | doaj-art-736dc0524f5f455abf36e51d7aeb4d2a2025-08-20T03:33:49ZengWileyJournal of Immunology Research2314-88612314-71562018-01-01201810.1155/2018/69232136923213TNFAIP3 F127C Coding Variation in Greek Primary Sjogren’s Syndrome PatientsAdrianos Nezos0Eliona Gkioka1Michael Koutsilieris2Michael Voulgarelis3Athanasios G. Tzioufas4Clio P. Mavragani5Department of Physiology, School of Medicine, National and Kapodistrian University of Athens, Athens, GreeceDepartment of Physiology, School of Medicine, National and Kapodistrian University of Athens, Athens, GreeceDepartment of Physiology, School of Medicine, National and Kapodistrian University of Athens, Athens, GreeceDepartment of Pathophysiology, School of Medicine, National and Kapodistrian University of Athens, Athens, GreeceDepartment of Pathophysiology, School of Medicine, National and Kapodistrian University of Athens, Athens, GreeceDepartment of Physiology, School of Medicine, National and Kapodistrian University of Athens, Athens, GreeceTumor necrosis factor, alpha-induced protein 3 (TNFAIP3) gene encodes the A20 protein, an important negative feedback regulator of the nuclear factor kappa-light-chain-enhancer of activated B cell (NF-κB) pathway. A coding TNFAIP3 variant, namely rs2230926, has been previously linked to B cell non-Hodgkin’s lymphoma (NHL) development in patients with Sjogren’s syndrome (SS) of French and UK origin. Herein, we aimed to determine the prevalence of rs2230926 in a Greek primary SS cohort and explore possible associations with disease characteristics. The rs2230926 gene variant was genotyped in 327 primary Greek SS patients (ninety-one complicated by NHL (SS-lymphoma)) and 448 Greek healthy controls (HC) of similar age and sex distribution. Clinical and laboratory characteristics were also recorded and gene expression of relevant genes of the NF-κB pathway was quantitated by real-time PCR in available whole peripheral blood (PB) from 165 primary SS patients. Increased prevalence of the rs2230926 mutant variant was detected in both SS-lymphoma and SS-nonlymphoma subgroups compared to HC (8.8% vs. 7.6% vs. 3.6%, p values: 0.04 and 0.03, respectively) in association with higher IgM, LDH serum levels, and PB Bcl-XL transcripts but lower leucocyte and neutrophil counts. Of interest, approximately one-fifth of SS-lymphoma cases with age at disease onset ≤ 40 years carried the rs2230926 variant (18.2% vs. 3.6%, OR 95% (CI): 6.0 (1.8–19.8), p value: 0.01). We postulate that deregulation of the NF-κB pathway as a result of the TNFAIP3 rs2230926 aberration increases SS and SS lymphoma susceptibility particularly in patients with early disease onset.http://dx.doi.org/10.1155/2018/6923213 |
| spellingShingle | Adrianos Nezos Eliona Gkioka Michael Koutsilieris Michael Voulgarelis Athanasios G. Tzioufas Clio P. Mavragani TNFAIP3 F127C Coding Variation in Greek Primary Sjogren’s Syndrome Patients Journal of Immunology Research |
| title | TNFAIP3 F127C Coding Variation in Greek Primary Sjogren’s Syndrome Patients |
| title_full | TNFAIP3 F127C Coding Variation in Greek Primary Sjogren’s Syndrome Patients |
| title_fullStr | TNFAIP3 F127C Coding Variation in Greek Primary Sjogren’s Syndrome Patients |
| title_full_unstemmed | TNFAIP3 F127C Coding Variation in Greek Primary Sjogren’s Syndrome Patients |
| title_short | TNFAIP3 F127C Coding Variation in Greek Primary Sjogren’s Syndrome Patients |
| title_sort | tnfaip3 f127c coding variation in greek primary sjogren s syndrome patients |
| url | http://dx.doi.org/10.1155/2018/6923213 |
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