mir-146a genetic polymorphisms in systemic lupus erythematosus patients: Correlation with disease manifestations

Basima A El-Akhras; Yasser B M Ali; Samir A El-Masry; Iman H Bassyouni; Ibrahim H El-Sayed; Roba M Talaat

doi:10.1016/j.ncrna.2022.05.001

mir-146a genetic polymorphisms in systemic lupus erythematosus patients: Correlation with disease manifestations

Noncoding RNA Res. 2022 May 26;7(3):142-149. doi: 10.1016/j.ncrna.2022.05.001. eCollection 2022 Sep.

Authors

Basima A El-Akhras¹, Yasser B M Ali¹, Samir A El-Masry¹, Iman H Bassyouni², Ibrahim H El-Sayed³, Roba M Talaat¹

Affiliations

¹ Molecular Biology Department, Genetic Engineering and Biotechnology Research Institute (GEBRI), Sadat City University, Egypt.
² Rheumatology and Rehabilitation Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
³ Biochemistry Department, Faculty of Science, Kafr El-Sheikh University, Egypt.

Abstract

This study aimed to investigate the genetic polymorphisms of miR-146a SNPs (rs2910164, rs57095329, and rs2431697) in systemic lupus erythematosus (SLE) patients and their association with clinical manifestations. The implication of SNPs on miR-146a expression level was also evaluated. SLE patients (113) and healthy controls (104) were registered in this study. The miR-146a SNPs were genotyped by polymerase chain reaction/restriction fragment length polymorphism (PCR-RFLP). Quantitative real-time PCR was used to measure the miR-146a expression in peripheral blood mononuclear cells (PBMCs). Our results showed that the genotype frequency of miR-146a SNPs didn't deviate significantly from the Hardy-Weinberg equilibrium (HWE). The AG genotype and G allele of miR-146a (rs57095329 A/G) might be considered a risk factor for the disease (OR = 2.27; CI: 0.78-6.57 and OR: 2.35; CI: 0.79-6.92 for AG genotype and G allele, respectively). Although, no statistical significance in the distribution of miR-146a SNPs (rs2910164, rs57095329, and rs2431697) was found, indicating the lack of association between the three SNPs and SLE susceptibility. Significantly, the higher frequency of the AA genotype of miR-146a (rs57095329) was associated with pancytopenia (P < 0.05), while the CT genotype of miR-146a (rs2431697) was associated (P < 0.05) with the antiphospholipid syndrome (APS). SLE patients had significantly higher levels of miR-146a compared to controls (P < 0.05). Elevation of miR-146a was independent of any SNP genotypes. In conclusion, this pilot study shows no association between miR-146a SNPs in our population group and susceptibility to lupus. Studies concerning other miRNAs in larger sample sizes are essential for a better understanding of their role in susceptibility to SLE disease.

Keywords: PCR; RFLP; SLE; SNPs; miR-146a.