ASSOCIATION OF-308 G/A TNFA POLYMORPHISM WITH SYSTEMIC LUPUS ERYTHEMATOSUS: A PRELIMINARY STUDY

作者：Ivanova M; Vasilev G; Stanilova S; Stoilov R^*; Manolova I

来源：Journal of the Balkan Tribological Association, 2014, 20(4): 665-672.

• cytokine
• promoter polymorphism
• SLE

The aim of this study was to investigate whether -308 G/A TNFA polymorphism (rs1800629) enables development of SLE in Bulgarian population. Genotyping for rs1800629 polymorphism was performed by restriction fragment length polymorphisms-PCR assay. A total of 86 SLE patients were compared with 83 healthy subjects. There was an increase of the TNFA -308 A allele (21.5% versus 9%) and decrease of the TNFA -308 G allele in cases versus controls (78.5% versus 91%; p = 0.001). We found a lower frequency of GG genotype (57% versus 81.9%) and a higher frequency of heterozygous AG genotype (43% versus 18%) in SLE patients compared to healthy individuals (p < 0.001). Logistic regression analysis revealed that the presence of TNFA -308 A allele in the genotype was associated with 3.4 times higher risk of developing SLE (OR = 3.423; p < 0.001). Moreover, we observed that the carriers of the GG-genotype are protected from development of neuropsychiatric lupus (OR = 0.224; p = 0.048) and simultaneously have an elevated risk for hematological abnormalities (OR = 2.5; p = 0.086). In conclusion, our results have shown that TNFA rs1800629 gene polymorphism is associated with susceptibility and appearance of certain clinical manifestations of this autoimmune disease. The importance of TNFA in SLE development could be useful for establishing current management strategies with biological agents.

• 出版日期2014