CAJ | 학술논문

目的：探讨T细胞免疫球蛋白域和黏蛋白域蛋白（T im ）‐3启动子区‐1516G＞ T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）的遗传易感性及其相关自身抗体的表达有无关联。方法采用限制性片段长度多态性聚合酶链反应方法对132例云南汉族SLE患者和120例健康体检者 Tim‐3启动子区多态性位点‐1516G＞ T的基因多态性进行检测，同时采用间接免疫荧光法和线性免疫印迹法检测其双链DNA抗体、Sm抗体、核糖核蛋白抗体三种自身抗体。采用直接计数法计算基因型和等位基因频率，进行 Hardy‐Weinberg平衡检验，基因型和等位基因频率的组间比较、各自身抗体和基因型的相关性比较均采用χ2检验。结果云南汉族人群T im‐3启动子区多态性位点‐1516G＞T的基因型GG、GT、TT在SLE组频率为：0．8182、0．1818、0．0000，在对照组频率为：0．9167、0．0750、0．0083，其基因型和等位基因频率在两组间差异有统计学意义（ P＜0．05）。结论云南汉族人群T im‐3启动子区‐1516位点存在单核苷酸多态性变异，且其多态性变异与系统性红斑狼疮遗传易感性相关，但其不同基因型可能不会影响SLE相关自身抗体的表达。
목적：탐토T세포면역구단백역화점단백역단백（T im ）‐3계동자구‐1516G＞ T위점기인다태성여운남고원지구한족인군계통성홍반랑창（SLE）적유전역감성급기상관자신항체적표체유무관련。방법채용한제성편단장도다태성취합매련반응방법대132례운남한족SLE환자화120례건강체검자 Tim‐3계동자구다태성위점‐1516G＞ T적기인다태성진행검측，동시채용간접면역형광법화선성면역인적법검측기쌍련DNA항체、Sm항체、핵당핵단백항체삼충자신항체。채용직접계수법계산기인형화등위기인빈솔，진행 Hardy‐Weinberg평형검험，기인형화등위기인빈솔적조간비교、각자신항체화기인형적상관성비교균채용χ2검험。결과운남한족인군T im‐3계동자구다태성위점‐1516G＞T적기인형GG、GT、TT재SLE조빈솔위：0．8182、0．1818、0．0000，재대조조빈솔위：0．9167、0．0750、0．0083，기기인형화등위기인빈솔재량조간차이유통계학의의（ P＜0．05）。결론운남한족인군T im‐3계동자구‐1516위점존재단핵감산다태성변이，차기다태성변이여계통성홍반랑창유전역감성상관，단기불동기인형가능불회영향SLE상관자신항체적표체。
Objective The aim of the present study was to analyze the association between the Tim‐3 polymor‐phism‐1516G> T and susceptibility to systemic lupus erythematosus(SLE) in a group of Han population from Yun‐nan province .Methods Polymerase chain reaction‐restriction fragment length polymorphism analysis (PCR‐RFLP) was used to detect the polymorphism of‐1516G> T site in 132 SLE patients and 120 controls .and we used indirect immunofluorescence assay and liner immunoblotting 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 .We used direct count‐ing method to calculate the genotype and allele frequencies to conduct the Hardy‐Weinberg equilibrium test ,and we usedχ2 test to compare the difference of the genotypic and allelic frequencies between SLE and control groups and the correlation of autoantibodies and genotypes .Results We found there are statistically significant differences in geno‐type and allele frequency of‐1516G> T between SLE and control group(P<0 .05);The genotype(GG ,GT ,TT)fre‐quency in the SLE group is 0 .818 2 ,0 .181 8 and 0 .000 0 ,which in the control group is 0 .916 7 ,0 .075 0 and 0 .008 3 respectively .Conclusion The‐1516 site of Tim‐3 gene has SNP variations ,the‐1516G> T genotype maybe related with the susceptibility to SLE in a Han population of Yunnan province ,but different genotypes may not affect the ex‐pression of related autoantibodies of SLE .