中国麻风皮肤病杂志 ›› 2017, Vol. 33 ›› Issue (11): 641-644,700.

• 论著 •    下一篇

PSMA6/PSMC6/PSMA3基因多态性与系统性红斑狼疮发病的相关性

刘兰婷1  王玉2  宋继权1  裴飒1  欧运超1   

  1. 1武汉大学中南医院皮肤科,武汉，430071
    2湖北医学院附属人民医院，十堰，442000
  • 出版日期:2017-11-15 发布日期:2018-12-10
  • 通讯作者: 宋继权,E-mail: songjiq@126.com

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

LIU  Lanting1, WANG Yu2, SONG Jiquan1, PEI Sa1, OU Yunchao1.   

  1. 1. Department of Dermatology Zhongnan Hospital of Wuhan University, Wuhan 430071, China; 2. Department of Dermatology, Renmin Hospital Hubei University of Medicine, Shiyan 442000, China
  • Online:2017-11-15 Published:2018-12-10
  • Contact: SONG Jiquan, E-mail: songjiq@126.com

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摘要： 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。

关键词: 系统性红斑狼疮, 蛋白酶体, ATP酶, 单核苷酸基因多态性

Abstract: 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.

Key words: systemic lupus erythematosus (SLE), PSM, ATP ase, single nucleotide polymorphism