PSMA6/PSMC6/PSMA3基因多态性与系统性红斑狼疮发病的相关性

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(P0.05)。结论:PSMA6/PSMC6/PSMA3 SNPs可能与SLE的发病无关。

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

Objective:To determine the association between the polymorphisms of proteasome ( PSM) re-lated 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 nucleo-tide 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 fre-quencies 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.