Upregulation of FOXP3 may act on immunological misbalance in Turner syndrome

Turner syndrome (TS) presents a characteristic immune imbalance among patients. As the X chromosome-linked FOXP3 gene is a powerful immune regulator, in this work we investigated a possible relationship between FOXP3 and TS. We evaluated 117 TS patients to investigate whether genetic associations within polymorphisms in FOXP3 (rs3761548, rs3761549) were associated with immune conditions. TaqMan Assays genotyping probes were employed in a real-time PCR-based method. Subsequently, we compared FOXP3 mRNA expression levels in TS patients and healthy females (control group), using fluorogenic probes through qPCR assay. We detected that the T allele from rs3761549 FOXP3 SNP was significantly associated with chronic inflammatory diseases in TS patients (P = 0.008, OR = 0.17, CI = 0.02-0.71). Further, we observed an upregulation of FOXP3 mRNA levels in the TS group compared to the HC group (+9.21 FC; P = 2.541 x 10(-7)). In conclusion, our results demonstrated a differential distribution of the T rs3761549 allele in chronic inflammatory diseases among TS patients, as well as that FOXP3 upregulation may influence appropriate immune or inflammatory regulation in these patients.