云南地区HLA-G基因3'非翻译区三个位点多态性与系统性红斑狼疮的关联研究

摘要

Objective To assess the association of three polymorphisms (14-bpINS/DEL,+3035C/ T and + 3142C/G) in the 3' untranslated region (3' UTR) of HLA-G gene and systemic lupus erythematosus (SLE) in Yunnan.Methods A case-control study has been carried out on 206 SLE patients and 212 healthy controls.Genotypes of 14-bpINS/DEL (rs1704),+3035C/T (rs17179108) and +3142C/ G (rs1063320) loci of 3'UTR of the HLA-G gene were determined with DNA sequencing.Results Allelic and genotypic frequencies of 14-bpINS/DEL and + 3142C/G did not differ significantly between the two groups (P＞0.05).The frequencies of +3035T allele was significantly higher in the SLE group compared with the control group (P ＜ 0.01,OR =1.604,95％ CI:1.186-2.169).With a dominant inheritance model,the odd ratio of dominant genotype (CT+TT) was 2.004 (95％CI:1.345-2.987,P=0.0006) in the SLE group.Conclusion The 14-bpINS/DEL and + 3142C/G polymorphisms in the 3' UTR of the HLA-G gene are not associated with susceptibility to SLE in Yunnan,whilst the T allele of +3035C/T may be a risk factor for SLE.%目的 探讨云南地区人群系统性红斑狼疮(systemic lupus erythematosus,SLE)与HLA-G基因3'非翻译区(3' untranslated region,3'UTR)3个位点(+2960 14 bp插入/缺失、+3035C/T和+3142C/G)多态性的关联性.方法 应用DNA序列测序法对云南地区206例SLE患者及212名健康对照者的HLA-G基因上述3个多态性位点进行基因分型.结果 HLA-G 3'UTR区14 bp插入/缺失和+3142C/G等位基因和基因型频率在SLE组和对照组间的差异均无统计学意义(P＞0.05),+3035T等位基因在SLE组的频率显著高于对照组,差异有统计学意义(P=0.002,OR=1.604,95％CI:1.186～2.169).在显性遗传模式下,SLE组中(CT+TT)的OR值为2.004 (95％CI:1.345～2.987,P=0.0006).结论 HLA-G 14 bp插入/缺失和+3142C/G多态性与云南地区人群SLE易感性无显著相关性,而+3035C/T多态性与云南地区系统性红斑狼疮易感性相关,+3035T等位基因可能是云南地区SLE发生的危险因素.