Association of transcription factor FOXP3 gene polymorphism with genetic susceptibility to systematic lupus erythematosus in Guangxi Zhuang population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the association of single nucleotide polymorphisms(SNP) of FOXP3 gene with susceptibility to systematic lupus erythematosus (SLE) in Chinese Zhuang population.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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).</p><p><b>CONCLUSION</b>The FOXP3 gene -2383C/T polymorphism is associated with SLE, and the -2383T allele is risk factor for SLE in the population studied.</p>

Association of interleukin-18 gene polymorphism with genetic susceptibility to systematic lupus erythematosus in Guangxi Zhuang population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the association of the single nucleotide polymorphisms of interleukin-18 (IL-18) gene with the susceptibility to systematic lupus erythematosus (SLE) in a Chinese Zhuang population.</p><p><b>METHODS</b>Two single nucleotide polymorphisms of the IL-18 gene promoter were analyzed, namely -137G/C and -607C/A, in 115 patients with SLE and 160 age and sex-matched controls in a Chinese Zhuang population, using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) strategy and DNA sequencing.</p><p><b>RESULTS</b>The IL-18 gene -607C/A polymorphism was significantly different between the SLE and control group (P < 0.05). The relative risk of SLE for -607C allele carrier was 1.619 times of the -607A allele carriers (OR=1.619, 95%CI: 1.150-2.281). Consistent with the results of the genotyping analyses, IL-18 -137G/-607C allele frequencies in patients with SLE was significant higher than that in controls (P < 0.05). The -137G/-607C allele was associated with a significantly increased risk of SLE (OR=1.484, 95%CI: 1.056-2.087). However, there was no difference of the distributions of the -137G/C polymorphism of the IL-18 gene between the SLE and control groups.</p><p><b>CONCLUSION</b>IL-18 gene -607C/A polymorphism was associated with SLE, the -607C allele may be a risk factor for SLE.</p>