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目的探讨E选择素基因第2外显子G98T和第4外显子A561C多态性在广西壮族人群中的分布及其与系统性红斑狼疮(SLE)的相关性。方法用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测82例系统性红斑狼疮患者和95例正常对照者E选择素基因型。结果E选择素第2外显子基因型GG、GT、TT频率在SLE组和对照组分别为86.6%、12.2%、1.2%和90.5%、8.4%、1.1%;E选择素第4外显子基因型AA、AC、CC频率在SLE组和对照组分别为81.7%、15.9%、2.4%和92.6%、7.4%、0.0%。E选择素第4外显子基因型频率和等位基因频率在SLE组和对照组比较差异均有统计学意义(P<0.05)。基因型频率的相对风险分析发现,AC+CC基因型患SLE的风险是AA基因型2.81倍(OR=2.81,95%CI为1.087～7.290)。结论E选择素A561C基因多态性与广西壮族人群SLE的发病有相关性,C等位基因可能是SLE的易感基因。
Objective To investigate the distribution of exon 2 G98T and exon 4 of exon 5 of E-selectin gene in Guangxi Zhuang population and its relationship with systemic lupus erythematosus (SLE). Methods E-selectin genotypes were detected in 82 patients with systemic lupus erythematosus and 95 healthy controls by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results The frequencies of GG, GT and TT genotypes of E-selectin exon 2 were 86.6%, 12.2%, 1.2% and 90.5%, 8.4% and 1.1% in SLE group and control group, respectively. The sub genotypes AA, AC and CC frequency were 81.7%, 15.9%, 2.4% and 92.6%, 7.4% and 0.0% in SLE group and control group, respectively. E-selectin exon 4 genotype frequency and allele frequency in the SLE group and the control group differences were statistically significant (P <0.05). The relative risk analysis of genotype frequency found that the risk of SLE with AC + CC genotype was 2.81 times of AA genotype (OR = 2.81, 95% CI: 1.087-7.290). Conclusion The polymorphism of E-selectin A561C is associated with the pathogenesis of SLE in Guangxi Zhuang population. The C allele may be a susceptible gene of SLE.