Tumour necrosis factor gene polymorphisms in Egyptian patients with rheumatoid arthritis and their relation to disease activity and severity

Aim of the study: The present case control study was conducted to assess the association of LTA 252 A>G, TNF-alpha 308 G>A, and TNF-alpha 1031 T>C gene polymorphisms with rheumatoid arthritis (RA), and their involvement in disease activity and severity. Material and methods: A total of 70 Egyptians, including 35 RA patients and 35 healthy control individuals, were included in the study. The RA patients comprised 34 females and one male. Cases with RA were diagnosed by a rheumatologist and fulfilled the 2010 ACR/EULAR criteria. Modified disease activity score (DAS28) was used to assess disease activity. Van Der Heijde-modified Sharp score (rRES) was used to assess radiological changes for assessment of disease severity. PCR-RFLP was used to detect the association of LTA 252 A>G, TNF-alpha 308 G>A, and TNF-alpha 1031 T>C gene polymorphisms with RA. Results: TNF-alpha 308 G allele and TNF-alpha 308 GG genotype were significantly higher in RA patients compared to healthy control subjects (p = 0.04 and p = 0.001, respectively). TNF-alpha 308 G allele and GG genotype were significantly higher in the RA non-remission group compared to the remission group (p = 0.008, p < 0.001). Patients with the TNF-alpha 308 AG genotype had higher mean of Sharp score compared to the patients with the GG and AA genotypes (p = 0.007). There was no significant association between LTA 252 A>G and TNF-alpha 1031 T>C gene polymorphisms and R4. Conclusions: Our results suggest that TNF-alpha 308 G/A gene polymorphism is genetically associated with RA and involved in disease activity and severity in Egyptian patients.