E选择素基因多态性与广西壮族系统性红斑狼疮的相关性研究

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。

Association of the E-selectin polymorphism with Systemic Lupus Erythematosus in the Ethnic Zhuang population from Guangxi Province

Objective To investigate the distribution of E-selectin polymorphisms in Guangxi ethnic Zhuang population and the association of E-selectin gene polymorphism in exon 2 and in exon 4 with systemic lupus erythematosus(SLE). Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to study the E-selectin polymorphisms in 82 patients with SLE and 95 healthy controls of ethnic Zhuang population in Guangxi Province. Results The frequencies of GG、GT、TT genotypes in the exon 2 of E-selectin were 86.6%,12.2%, and 1.2% in SLE group; 90.5%, 8.4%, and 1.1% in the control group, respectively. The frequencies of AA、AC、CC genotypes in the exon 4 and E-selectin were 81.7%,15.9%, and 2.4% in SLE group; 92.6%,7.4%, and 0.0% in the control group, respectively. There was a significant difference in the frequencies of allele and genotype in E-selectin A561C polymorphism between SLE group and control group(P<0.05). The relative risk suffered from SLE in those with AC+CC genotype was 2.814 times of the AA genotype(OR=2.814,95%CI:1.087～7.290). Conclusions E-selectin A561C polymorphism is associated with SLE and C allele may be a risk factor for SLE in ethnic Zhuang population in Guangxi.