[Association of transcription factor FOXP3 gene polymorphism with genetic susceptibility to systematic lupus erythematosus in Guangxi Zhuang population].

OBJECTIVE: To investigate the association of single nucleotide polymorphisms(SNP) of FOXP3 gene with susceptibility to systematic lupus erythematosus (SLE) in Chinese Zhuang population.
METHODS: Author analyzed the -2383 C/T and -3281 C/A two SNPs of the FOXP3 gene promoter in 120 patients with SLE and 160 age and sex matched controls in a Chinese Zhuang population, using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) strategy and DNA sequencing.
RESULTS: The distribution of the FOXP3 gene -3281 C/A polymorphism was not different between the two groups. However, the FOXP3 gene -2383 C/T polymorphism was significantly different (P<0.05) between the two groups. The relative risk of suffering from SLE of -2383T allele carriers was 1.715 times of the -2383C allele carriers (OR=1.715, 95%CI: 1.165-2.525). Consistent with the results of the genotyping analyses, the FOXP3 -2383T/-3281A haplotype frequency in patients with SLE was significantly higher than that in controls (P<0.05). The -2383T/-3281A allele was associated with a significantly increased risk of SLE (OR=2.196, 95%CI: 1.165-4.142).
CONCLUSION: The FOXP3 gene -2383C/T polymorphism is associated with SLE, and the -2383T allele is risk factor for SLE in the population studied.