Session Title: Sjögren's Syndrome - Poster I: Translational Science
Session Type: ACR Poster Session A
Session Time: 9:00AM-11:00AM
Background/Purpose: TNFAIP3 gene encodes the A20 protein which is an important negative feedback regulator of the NF-κB pathway. A coding TNFAIP3 polymorphism, namely rs2230926, has been previously found to be associated with primary Sjogren’s syndrome (SS) related lymphoma in French and UK populations. In this study we aimed to determine the prevalence of rs2230926 in a Greek primary SS cohort and to investigate possible associations with clinical and laboratory disease characteristics.
Methods: The rs2230926 polymorphism was genotyped in 327 primary Greek SS patients, according to European American classification criteria and 448 Greek healthy controls (HC) of similar age and sex distribution. Ninety-one patients were complicated by lymphoma development. 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 whole peripheral blood of 165 primary SS patients. Statistical analysis was performed by SPSSv.22.
Results: The prevalence of rs2230926 mutant variant was higher in both SS-lymphoma and SS-non lymphoma subgroups compared to HC [8/91 (8.8%) and 18/236 (7.6%) versus 16/448 (3.6%), p= 0.04 and p=0.03, respectively] and found to be associated with earlier age of SS diagnosis, elevated LDH levels and lower white blood cell and neutrophil number at baseline. Of interest, when patients were divided according to age of SS diagnosis, only primary SS with age at SS onset ≤ 40 years complicated by lymphoma had increased frequency of the rs2230926 compared to HC [4/22 vs 16/448, 18.2% vs 3.6%, OR 95%(CI): 6.0 (1.8-19.8, p=0.01 by Fisher’s exact test]. Whole peripheral blood transcript levels of the anti-apoptotic gene BCL2L1 were significantly higher in SS patients carrying the variant compared to non-carriers (p=0.02).
Conclusion: The TNFAIP3 rs2230926 polymorphism increases lymphoma risk among primary Greek SS patients with early disease onset possibly through deregulation of the NF-κB pathway.
To cite this abstract in AMA style:Nezos A, Gioka T, Koutsilieris M, Voulgarelis M, Tzioufas AG, Mavragani CP. The TNFAIP3 F127C Coding Variation in Sjogren’s Syndrome: Results from a Greek Cohort [abstract]. Arthritis Rheumatol. 2016; 68 (suppl 10). https://acrabstracts.org/abstract/the-tnfaip3-f127c-coding-variation-in-sjogrens-syndrome-results-from-a-greek-cohort/. Accessed August 4, 2021.
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ACR Meeting Abstracts - https://acrabstracts.org/abstract/the-tnfaip3-f127c-coding-variation-in-sjogrens-syndrome-results-from-a-greek-cohort/