Abstract
Association of P2X7R Functional Expression and Gene Polymorphisms with Systemic Lupus Erythematosus
Highlights
Systemic lupus erythematosus (SLE) is an inflammatory autoimmune disease characterized by the production of autoantibodies and damage to various organs
The results showed that P2X7R expression on lymphocytes and CD19+ cells was positively correlated with SLEDAI-2K
The following clinical symptoms were used to group SLE patients: peripheral joint swelling and pain in 2 or more joints, cheek erythema, urine protein index greater than 3 or 24-hour urinary protein excretion greater than 0.5 gram, neuropsychiatric symptoms (NP-SLE group), white blood cell that are less than 4 × 109/L, and platelets that are less than 10 × 109/L
Summary
Systemic lupus erythematosus (SLE) is an inflammatory autoimmune disease characterized by the production of autoantibodies and damage to various organs. The gene encoding the human purinergic receptor P2X ligandgated ion channel 7 (P2X7 receptor, P2X7R) is located in the 12q24.31 chromosomal region. This locus has been recently identified as a SLE susceptibility locus in Hispanic and European American families [7,8]. The P2X7R protein contains 595 amino acids that include two membrane-spanning domains and a long intracellular C-terminus (about 240 amino acids) region that is essential for its function [9]. The intracellular domain Thr-357 to Ser polymorphism (1096C>G) alters the binding of P2X7R to ATP [12].
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