Clinical significance of TNFAIP3 rs2230926 T > G gene polymorphism in Egyptian cases with rheumatoid arthritis

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• 作者：Samy Y. Elkhawaga^a ; ^{syussuf2012@gmail.com} ; Ahmed I. Abulsoud^a ; Mostafa M. Elshafey^a ; Mohsen M. Elsayed^b
• 关键词：TNFAIP3 ; A20 ; Gene polymorphism ; Rheumatoid arthritis ; Egyptian
• 刊名：Meta Gene
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：11
• 期：Complete
• 页码：58-63
• 全文大小：281 K
• 卷排序：11

文摘

Rheumatoid arthritis (RA) is an inflammatory autoimmune disease. The tumor necrosis factor alpha-induced protein 3 (TNFAIP3), which encodes ubiquitin-editing protein A20 has been reported to be associated with RA in some populations. We aimed to assess the association of TNFAIP3 rs2230926 T > G gene polymorphism with the susceptibility, activity and functional disability of RA in Egyptian patients.Subjects and methodsThis study included 82 unrelated RA patients and 81 unrelated healthy individuals from the same region. DNA of all subjects was genotyped for TNFAIP3 rs2230926 T > G polymorphism by Real Time-PCR using TaqMan® allele discrimination assay.ResultsRA patients showed significantly higher TNFAIP3 rs2230926 G allele carriage (TG + GG genotypes) compared to controls (35.37% vs. 14.82%, OR = 3.15, 95% CI = 1.47–6.74, P = 0.0036). Also, the frequencies of the rs2230926 G allele were significantly higher among patients compared to controls (18.30% vs. 7.40%, OR = 2.8, 95% CI = 1.38–5.69, P = 0.0045). Patients carrying TG + GG genotypes showed no significant differences from those with TT genotype regarding clinical and laboratory findings except for the rheumatoid deformity (P = 0.030) and health assessment questionnaire (HAQ) score (P = 0.004) that was significantly higher between patients carrying G allele. Furthermore, TNFAIP3 rs2230926 G allele had significantly improved the risk to develop joint deformity in seronegative RA patients for rheumatoid factor (RF) or anti-cyclic citrullinated peptide (Anti-CCP) antibody (OR = 19, 95% CI = 1.65–218.6, P = 0.015, OR = 6.33, 95% CI = 1.20–33.4, P = 0.04 respectively).ConclusionsTNFAIP3 rs2230926 G allele is associated with susceptibility to RA, and functional disability in patients with rheumatoid arthritis. This may provide a good marker for the diagnosis of RA susceptibility and help in the prediction of disease severity.