CAJ | 학술논문

目的：探讨Tim-1启动子区-416G ＞ C和-1454G＞A位点基因多态性与云南高原地区汉族人群系统性红斑狼疮（SLE）的遗传易感性有无关联。方法采用 PCR-RFLP方法对132名云南汉族 SLE病人和120名健康体检者Tim-1启动子区多态性位点-416G＞C和-1454G＞A的基因多态性进行检测，同时采用间接免疫荧光法检测其抗双链DNA抗体、抗 Sm抗体、抗 RNP抗体三种自身抗体。结果 SLE组和对照组 Tim-1启动子区多态性位点-416 G＞C的基因型及等位基因频率差异均无统计学意义（P＞0．05），而-1454G＞A位点的基因型及等位基因频率在 SLE组与对照组中的差异均有统计学意义（P＜0．05）；SLE组和对照组三种 SLE相关自身抗体检测阳性率差异有统计学意义（P＜0．05）；SLE组两个位点不同基因型中三种自身抗体检测阳性率的差异均无统计学意义（P＞0．05）。结论云南汉族人群Tim-1启动子区-416G＞C和-1454G＞A位点存在单核苷酸多态性变异，且-1454G＞A位点多态性变异与 SLE遗传易感性相关，但两位点不同基因型不会影响 SLE相关自身抗体的表达。
목적：탐토Tim-1계동자구-416G ＞ C화-1454G＞A위점기인다태성여운남고원지구한족인군계통성홍반랑창（SLE）적유전역감성유무관련。방법채용 PCR-RFLP방법대132명운남한족 SLE병인화120명건강체검자Tim-1계동자구다태성위점-416G＞C화-1454G＞A적기인다태성진행검측，동시채용간접면역형광법검측기항쌍련DNA항체、항 Sm항체、항 RNP항체삼충자신항체。결과 SLE조화대조조 Tim-1계동자구다태성위점-416 G＞C적기인형급등위기인빈솔차이균무통계학의의（P＞0．05），이-1454G＞A위점적기인형급등위기인빈솔재 SLE조여대조조중적차이균유통계학의의（P＜0．05）；SLE조화대조조삼충 SLE상관자신항체검측양성솔차이유통계학의의（P＜0．05）；SLE조량개위점불동기인형중삼충자신항체검측양성솔적차이균무통계학의의（P＞0．05）。결론운남한족인군Tim-1계동자구-416G＞C화-1454G＞A위점존재단핵감산다태성변이，차-1454G＞A위점다태성변이여 SLE유전역감성상관，단량위점불동기인형불회영향 SLE상관자신항체적표체。
Objective The aim of the present study was to analyze the association between the polymorphic sites-416G>C and-1454G>A of Tim-1 gene and susceptibility to systemic lupus erythematosus (SLE)in a group of Han population from Yunnan province.Methods Polymerase chain reaction-restriction fragment length polymorphism anal-ysis(PCR-RFLP)was used to detect the polymorphisms of-416G>C and-1454G>A sites in 132 SLE patients and 120 controls,and we used indirect immunofluorescence assay to detect three related aotuantibodies of SLE,which include the anti-double stranded DNA(dsDNA)antibody,the anti-Sm antibody and the anti-RNP antibody.Results We found no statistical differences in genotype and allele frequency of-416G>C between SLE and control group(P>0.05),but there are statistically significant differences in genotype and allele frequency of-1454G>A between SLE and control group(P<0.05);The positive rate of three autoantibodies between SLE and control group has statistically significant difference(P<0.05),but the positive rate of three autoantibodies between different genotypes of-416G>C and-1454G>A in SLE group had no significant differences (P> 0.05).Conclusion The-416G>C and-1454G>A sites of Tim-1 gene have SNP variations,and the polymorphic variation of-1454G>A site is related to the susceptibility to SLE in a Han population of Yunnan province,but different genotypes of these two sites don,taffect the expression of related au-toantibodies of SLE.