Genetic susceptibility to SLE is associated with TNF‐alpha gene polymorphism –863, but not –308 and –238, in Thai population

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Summary: The production of cytokine varies among individuals and correlates with the polymorphism of cytokine genes. Three functional single nucleotide polymorphisms (SNPs) at position –863, –308, and –238 in the tumour necrosis factor alpha (TNF‐α) gene promoter were analysed for association with systemic lupus erythematosus (SLE) (n = 154), and clinical manifestations in a Thai population were compared with 154 ethnically matched controls. The genotyping was determined by polymerase chain reaction‐restriction fragment length polymorphism method. The association between these SNPs and SLE was analysed using chi‐squared test. The –863A allele and –863A, –308G, –238G haplotype were found to be significantly increased in SLE patients (25%) compared with healthy controls (15.3%) (Pc = 0.009, OR = 1.85, 95% CI = 1.21–2.83). In addition –863A allele was found to be significantly increased in the SLE group with Raynaud's phenomenon compared to SLE without Raynaud's phenomenon (35% vs. 19.4%) (Pc = 0.048, OR = 2.23, 95% CI = 1.21–4.10). The –863A allele of TNF‐α gene and the extended haplotype of –863A, –308G, –238G can be used as a genetic marker for SLE susceptibility in Thai populations. In addition, the –863A genotype could produce high TNF levels and potentially induce the occurrence of Raynaud's phenomenon.

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