China Journal of Leprosy and Skin Diseases ›› 2017, Vol. 33 ›› Issue (11): 641-644,700.

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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

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