PSMA6/PSMC6/PSMA3基因多态性与系统性红斑狼疮发病的相关性

Association between PSMA6/PSMA3/PSMC6 gene polymorphism and systemic lupus erythematosus

目的:明确蛋白酶体(PSM)相关基因单核苷酸多态性与中国人群系统性红斑狼疮(SLE)的相关性。方法:PCR扩增101例SLE患者和143名正常对照者外周血目的基因片段,通过二代测序对目的基因片段进行测序检测蛋白酶体20 s亚单位和相关ATP酶基因的4个目标位点PSMA6(rs2277460),PSMA3(rs2348071),PSMC6(rs2295826,rs2295827)的基因型及等位基因频率。结果:SLE组及对照组中rs2277460(GG,GA、AA)基因型频率分别为97.22%,1.85%%,0.93%和96.5%,3.5%,0;rs2348071AA,AG,GG分别为30.56%、53.7%、15.74%和33.57%、50.35%、16.08%;rs2295826AA,AG,GG分别为75.93%、24.07%、0和69.23%、29.37%、1.4%;rs2295827CC、CT、TT分别为78.7%、19.45%、1.85%和76.22%、20.98%、2.8%,均无统计学差异(P>0.05)。结论:PSMA6/PSMC6/PSMA3 SNPs可能与SLE的发病无关。

Objective： To determine the association between the polymorphisms of proteasome（ PSM） related genes and systemic lupus erythematosus（ SLE）. Methods： The aim gene fragment extracted from the peripheral blood DNA of 101 SLE patients and 143 healthy controls was amplified by PCR. The single nucleotide polymorphisms of PSMA6（ rs2277460）,PSMA3（ rs2348071）,PSMC6（ rs2295826,rs2295827） alleles and the genotypes of proteasome 20 s subunit and related ATPase were detected by next generation sequencing technology. Results： The genotype frequencies of rs2277460 GG,GA,AA in the SLE patients and healthy controls were 30.56%,53.7%,15.74% and 33.57%,50.35%,16.08%,retrospectively. The genotype frequencies of rs2295826 AA,AG,GG were 75.93%,24.07%,0 and 69.23%,29.37%,1.4%. The genotype frequencies of rs2295827 CC,CT,TT were 78. 7%,19. 45%,1. 85% and 76. 22,20. 98%,2. 8%,with no significant differences between the two groups（ P〈0.05）. Conclusion： There may be no association between polymorphism of PSMA6/PSMC6/PSMA3 gene with SLE.