investigation of rs531564 polymorphism in the primary microrna-124 gene in patients with systemic lupus erythematosus and rheumatoid arthritis: association with disease susceptibility and clinical characteristics

Microrna-124 (mir-124) is known as an important regulator of the immune system andinflammatory response. studies have reported that this mirna is dysregulated in autoimmunedisorders such as systemic lupus erythematosus (sle) and rheumatoid arthritis (ra). afunctional analysis demonstrated that rs531564 (c>g) affects the biogenesis of primarymicrorna transcript-124 (pri-mir-124) and changes the expression of mature mir-124. in thepresent study, for the first time, we intended to evaluate the possible association betweenrs531564 polymorphism with sle and ra risk.in this case-control study, 110 patients with sle, 115 patients with ra, and 120 healthysubjects were enrolled to evaluate rs531564 genotypes with real-time polymerase chain reaction(pcr) high resolution melting method.our findings demonstrated that frequency of gc genotype and g allele were considerablyhigher in the control group than ra patients, demonstrating that that gc genotype and g allelehave a protective effect for healthy individuals (gc vs cc; or: 0.29; 95%ci [0.12,0.67] and g vsc; or: 0.42; 95%ci [0.23,0.78]). however, no significant correlation was confirmed betweenallele and genotype frequencies of rs531564 with sle risk (p>0.05). however, the g allele inrs531564 polymorphism was associated with serum level of c-reactive protein (crp), erythrocyte sedimentation rate (esr), anti-dsdna antibody, c3, c4, and creatinine, and frequency of renalinvolvements in sle patients (p<0.05). moreover, in ra patients, the g was correlated withlower concentration esr and crp (p<0.001).our findings propose a considerable association between rs531564 polymorphism in the pri-mir-124 gene with susceptibility and clinical characteristics of ra and sle in the iranian population.