Influence of MX1 promoter rs2071430 G/T polymorphism on susceptibility to systemic lupus erythematosus

The expression of interferon inducible genes are reported to be heightened in systemic lupus erythematosus (SLE); nevertheless, not much is known regarding the genetic variants underlying these genes and their role in the pathogenesis of disease. Herein, we aim to explore the potential association and contribution of polymorphisms in MX1 gene (i) promoter with part of exon 1 (ii) intron 6, and (iii) their resulting haplotypes, with susceptibility to SLE. A total of 306 subjects, 152 SLE and 154 healthy controls (HC), were screened by direct sequencing method. Statistical analysis was carried out using appropriate software. The screening region of interest in MX1 revealed the existence of promoter (?123C/A, ?88G/T, ?20 A/C) and intron 6 (+9862G/A, +10190G/A, +9901C/G, +9920C/A, +9959C/T, +10047A/G) variants in SLE and HC. A significant association was observed between MX1 ?88G/T SNP and susceptibility to SLE (χ ²?=?4.18, p?=?0.04, OR?=?1.89, 95 % CI 1.03–3.5). Haplotype analysis also revealed increased risk of SLE among individuals carrying CTA haplotype (?123 C, ?88 T, ?20 A) (χ ²?=?5.74, p?=?0.017, OR?=?4.28, 95 % CI 1.30–14.06). None of the other tested variants showed any significant association with SLE. The present study is the first to reveal the influence of genetic variation in MX1 gene in susceptibility to SLE.