Single-nucleotide polymorphisms influence the promoter activities of systemic lupus erythematosus-associated genes

FOXP3 gene polymorphisms increase the risk of systemic lupus erythematosus in a Han Chinese population

“…evaluated the association of 17 SNP polymorphisms with SLE, including -3279 (C > A). They found that different alleles can affect promoter activity and corresponding serum factor levels in patients with SLE, revealing that SLE-related SNPs play an important role in the pathogenesis of SLE [ 11 ].…”

“…Besides, the transcription factor forkhead box P3 (FOXP3) is pivotal in governing the development and differentiation of CD4 + CD25 + Tregs. Previous investigations involving promoter activity analysis have revealed that variations in the FOXP3 gene promoter region can impact promoter activities, decrease FOXP3 mRNA expression, and eventually reduce FOXP3 protein expression [ 11 ]. Then, these reduced FOXP3 expressions in Tregs alter the frequency of Tregs and reduce Tregs’ suppressive function [ 12 , 13 ].…”

“…Although the FOXP3 gene polymorphism has been identified as a potential risk factor for SLE, the reported findings have been controversial [ 6 , 11 , 16–18 ]. For instance, one study indicated that the -3279 (C > A) variant in the FOXP3 gene is linked to SLE in the Brazilian population [ 6 ], while another study did not find an association between this variant and SLE susceptibility [ 17 ].…”