Programmed Cell Death 1 Gene Polymorphism as a Risk Factor for Systemic Lupus Erythematosus in Northwest Iran

Abstract

Background: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease. The programmed cell death 1 (PDCD1) gene, which encodes the PD1 protein, is one of the many genes involved in susceptibility to SLE. The PD1 protein is an inhibitory immunoreceptor that plays a key role in maintaining immunological tolerance to self-antigens. The PD1.5 C/T polymorphism (rs2227981, c.804 T > C) alters the expression and function of the PD‐1 receptor. Objectives: This case-control study aimed to determine the association between the rs2227981 polymorphism of the PDCD1 gene and susceptibility to SLE in the northwestern population of Iran. Methods: The rs2227981 genotype was determined in 52 SLE patients and 53 controls using the PCR-RFLP method with the Pvu II restriction enzyme. Results: The study found a significant association between the rs2227981 polymorphism and susceptibility to SLE in the study population. Conclusions: The rs2227981 polymorphism appears to be a risk factor for SLE in northwestern Iran.