<i>PTPN22</i>Gene Polymorphisms in Pediatric Systemic Lupus Erythematosus

Abstract

<i>Objective</i>: Pediatric systemic lupus erythematosus (PSLE) is a heterogeneous autoimmune disorder of unknown origin. <i>PTPN22</i> gene polymorphisms have been associated with SLE in different populations. We investigated the associations of the rs2476601, rs1217414, rs33996649, rs1276457, and rs1310182 SNPs in the <i>PTPN22</i> gene with PSLE. <i>Materials and methods:</i> 55 PSLE patients and 93 healthy controls were recruited. SNPs were genotyped by the real-time PCR allelic discrimination method. <i>Results:</i> We found that the <i>PTPN22</i> polymorphisms rs1310182 A allele (<i>p</i> = 0.01, OR = 1.92 95% CI = 1.16-3.18), and rs1310182 AA genotype with (<i>p</i> < 0.001) and rs12760457 TT (<i>p</i> = 0.046) were associated with PSLE. No significant associations were found between other SNPs and PSLE. <i>Conclusions:</i> The <i>PTPN22</i> rs1310182 A allele and rs1310182 AA genotype were associated with PSLE and may be a possible genetic marker for susceptibility to PSLE. However, further investigation would be required to elucidate the mechanistic role of this association.