CAJ | 학술논문

目的探讨TLR9单核苷酸多态性与广西系统性红斑狼疮(SLE)患者发病的相关性,以及其在壮族、汉两个民族间的差异.方法聚合酶链反应-限制性酶切技术、聚合酶链反应-限制性片段长度多态性分析技术(PCR-RFLP)对97例广西SLE患者和202例广西健康对照者的TLR9基因多态性进行检测,分析其基因型和等位基因频率与SLE部分临床实验室指标的关联性,并比较两民族间的差异.结果 TLR9rs352140CC、CT、TT基因型频率在汉族SLE组与汉族对照组中分别为42.9％、41.1％、16.1％和38.3％、55.8％、5.8％,差异有统计学意义(P＜0.05),其C、T等位基因频率差异无统计学意义(P＞0.05).TLR9rs352140 C/T基因型频率和等位基因频率在壮族SLE组与壮族健康对照组间、壮族SLE组与汉族SLE组间差异无统计学意义(均P＞ 0.05).TLR9 rs352140TT基因型频率在ds-DNA阳性组比阴性组高(P＜0.05),而T等位基因频率在两组间差异无统计学意义(P＞0.05).TLR9 rs352140TT基因型频率和T等位基因的频率在SLEDAI≥9组比SLEDAI＜9组高,差异有统计学意义(均P＜0.05).TLR9 rs352140TT基因型频率和T等位基因的频率在ANA阳性组与阴性组间差异无统计学意义(均P＞ 0.05).结论 TLR9 rs352140基因多态性可能与广西汉族人SLE的易感性有关,TLR9基因多态性与部分SLE指标可能具有相关性.
목적 탐토TLR9단핵감산다태성여엄서계통성홍반랑창(SLE)환자발병적상관성,이급기재장족、한량개민족간적차이.방법 취합매련반응-한제성매절기술、취합매련반응-한제성편단장도다태성분석기술(PCR-RFLP)대97례엄서SLE환자화202례엄서건강대조자적TLR9기인다태성진행검측,분석기기인형화등위기인빈솔여SLE부분림상실험실지표적관련성,병비교량민족간적차이.결과 TLR9rs352140CC、CT、TT기인형빈솔재한족SLE조여한족대조조중분별위42.9％、41.1％、16.1％화38.3％、55.8％、5.8％,차이유통계학의의(P＜0.05),기C、T등위기인빈솔차이무통계학의의(P＞0.05).TLR9rs352140 C/T기인형빈솔화등위기인빈솔재장족SLE조여장족건강대조조간、장족SLE조여한족SLE조간차이무통계학의의(균P＞ 0.05).TLR9 rs352140TT기인형빈솔재ds-DNA양성조비음성조고(P＜0.05),이T등위기인빈솔재량조간차이무통계학의의(P＞0.05).TLR9 rs352140TT기인형빈솔화T등위기인적빈솔재SLEDAI≥9조비SLEDAI＜9조고,차이유통계학의의(균P＜0.05).TLR9 rs352140TT기인형빈솔화T등위기인적빈솔재ANA양성조여음성조간차이무통계학의의(균P＞ 0.05).결론 TLR9 rs352140기인다태성가능여엄서한족인SLE적역감성유관,TLR9기인다태성여부분SLE지표가능구유상관성.
Objective To assess the association between Toll-like receptor 9 (TLR9) gene single nucleotide polymorphisms (SNPs) and systemic lupus erythematosus (SLE) development in Guangxi Zhuang and Han populations,as well as the difference in TLR9 SNPs between the two populations.Methods Totally,41 SLE patients of Zhuang nationality and 56 of Han nationality,as well as 82 healthy checkup examinees of Zhuang nationality and 120 of Han nationality were enrolled in this study.Venous blood samples were obtained from all of these subjects and subjected to DNA extraction.The single nucleotide polymorphisms in TLR9 gene were detected by PCR-restriction fragment length polymorphism (PCR-RFLP) analysis followed by direct sequencing.Chi-square test and adjusted Chi-square test were conducted to assess the relationship between the genotype and allele frequencies of TLR9 SNPs and some clinical and laboratory parameters of patients with SLE,as well as the differences in genotype and allele frequencies of TLR9 SNPs between the two populations.Results The frequencies of CC,CT and TT genotypes of TLR9 SNP rs352140 were 42.9％,41.1％ and 16.1％ respectively in the patients of Han nationality,compared to 38.3％,55.8％ and 5.8％ in the healthy controls of Han nationality (all P ＜ 0.05),but no significant difference was observed in the frequency of C or T allele of the SNP rs352140 between the patients and controls of Han nationality (both P ＞ 0.05).There was no significant difference in the genotype or allele frequency of TLR9 SNP rs352140 between the patients and healthy controls of Zhuang nationality,or between the patients of Han nationality and Zhuang nationality (all P ＞ 0.05).The patients with anti-dsDNA antibodies showed a significantly higher frequency of TT genotype (P ＜ 0.05),but similar T allele frequency at TLR9 SNP rs352140 (P ＞ 0.05) compared with those without.The frequencies of both TT genotype and T allele of TLR9 SNP rs352140 were significantly increased in the patients with a SLE disease activity index (SLEDAI) ≥ 9 compared with those with a SLEDAI ＜ 9 (both P ＜ 0.05).There was no statistical difference in either the TT genotype or the T allele frequency at TLR9 SNP rs352140 between antinuclear antibody-positive and-negative patients with SLE (both P ＞ 0.05).Conclusions The TLR9 SNP rs352140 is correlated with several clinical and laboratory parameters of SLE,and might contribute to the susceptibility to SLE in Guangxi Han population.