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TNFAIP3 F127C Coding Variation in Greek Primary Sjogren's Syndrome Patients.
- Source :
-
Journal of immunology research [J Immunol Res] 2018 Dec 19; Vol. 2018, pp. 6923213. Date of Electronic Publication: 2018 Dec 19 (Print Publication: 2018). - Publication Year :
- 2018
-
Abstract
- 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- κ B) 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- κ B 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- κ B pathway as a result of the TNFAIP3 rs2230926 aberration increases SS and SS lymphoma susceptibility particularly in patients with early disease onset.
- Subjects :
- Age of Onset
Aged
Cohort Studies
Female
Gene Frequency
Genetic Association Studies
Greece epidemiology
Humans
Lymphoma, B-Cell epidemiology
Male
Middle Aged
Polymorphism, Single Nucleotide
Prevalence
Signal Transduction genetics
Sjogren's Syndrome epidemiology
Genotype
Lymphoma, B-Cell genetics
NF-kappa B metabolism
Sjogren's Syndrome genetics
Tumor Necrosis Factor alpha-Induced Protein 3 genetics
Subjects
Details
- Language :
- English
- ISSN :
- 2314-7156
- Volume :
- 2018
- Database :
- MEDLINE
- Journal :
- Journal of immunology research
- Publication Type :
- Academic Journal
- Accession number :
- 30662920
- Full Text :
- https://doi.org/10.1155/2018/6923213