摘要
目的:探讨TLR5rs5744168基因单核苷酸多态性与广西壮、汉族系统性红斑狼疮易感性的相关性以及种族间差异,初步阐明其在壮、汉族SLE发生发展中的作用。方法:采用聚合酶链反应PCR技术和直接测序的方法对33例壮族、44例汉族系统性红斑狼疮患者和72名壮、汉族健康对照者的TLR5rs5744168C/T基因多态性进行分析,比较组间基因型和等位基因频率的差异,并与主要临床指标进行相关性分析。结果:(1)广西地区壮、汉族SLE的TLR5rs5744168的TT基因型均缺失;CC基因型频率在各组中均在90.0%~100.0%之间。(2)广西壮族SLE患者TLR5基因rs5744168 CC、CT基因型频率分别是0.939、0.061,汉族SLE患者相应基因型频率分别是0.977、0.023,与相应民族正常对照组间以及壮、汉族SLE间差异均无统计学意义(分别χ2=2.001、χ2=2.235和χ2=0.723;均P>0.05);壮族SLE患者的TLR5rs5744168 C、T等位基因频率分别是0.970、0.030,汉族SLE相应的C、T等位基因频率分别是0.989、0.011,与相应民族正常对照组间以及壮、汉族SLE间差异均无统计学意义(分别χ2=1.970、χ2=2.166和χ2=0.708;均P>0.05)。(3)TLR5rs5744168 CC、CT基因型及C、T等位基因与广西壮汉族SLE患者ds-DNA、ANA、肾损害临床表现和实验室检查均无相关性(均P>0.05)。结论:TLR5rs5744168基因多态性与广西壮、汉族SLE的易感性以及ds-DNA、ANA、肾损害临床实验室主要指标均无明显相关性,壮、汉族间亦不存在明显民族差异性。
Objective:To investigate single nucleotide polymorphism site rs5744168 of Toll-like receptors 5(TLR5)and to detect the relationship with susceptibility to systemic lupus erythematosus(SLE)in Guangxi Zhuang and Han population.And studying on their correlation whether is different in the two races.And to clarify its role in the occurrence and development of SLE in Guangxi Zhuang and Han population in preliminary.Methods: The polymorphism(rs5744168C/T)of TLR5 was detected by PCR and direct sequencing in 33 Zhuang population.44 Han population with SLE and 72 healthy controls in the two races.The differences between the two groups in genotypes and allele frequencies were anulyzed.The correlation in the main clinical indicators were analyzed.Results:(1)The TT genotype of TLR5rs5744168 were missing in Guangxi Zhuang and Han SLE;the CC genotype frequencies in each group were 90.0%-100.0%.(2)The genotype frequencies of CC,CT in rs5744168 site of TLR5 in SLE of Guangxi Zhuang population were 0.939,0.061 respectively.And they were in SLE of Guangxi Han population were 0.977,0.023 respectively.There was no difference from their controls,and between the two groups which SLE of Guangxi Zhuang population and Guangxi Han population(fractionation:χ2=2.001,χ2=2.235 and χ2 =0.723;all P〈0.05).The corresponding C,T allele frequencies in SLE of Guangxi Zhuang population were 0.970,0.030,and they were 0.989,0.011 in SLE of Guangxi Han population,there were not statistically significant difference between theirs homologous national normal controls,and the same condition between in the two groups(respectively,χ^2=1.970,χ ^2=2.166 and χ ^2=0.708;all P 0.05).(3)TLR5 gene rs5744168 CC,CT genotype and C,T allele frequencies in patients whith SLE in Guangxi was not correlation whith ds-DNA-positive,ANA positive,kidney damage and other phenotype of clinical and laboratory test (all P〈0.05).Conclusion: The susceptibility of SLE in Guangxi Zhuang and Han population has nothing to do with th
出处
《中国免疫学杂志》
CAS
CSCD
北大核心
2013年第8期829-833,共5页
Chinese Journal of Immunology
基金
广西自然科学基金项目(2010GXNSFA013186)
广西卫生厅重点课题(桂卫重200829)
关键词
壮族
系统性红斑狼疮
TOLL样受体5
单核苷酸多态性
The Zhuang population
Systemic lupus erythematosus
Toll-like receptor 5
Single nucleotide polymorphism