Association of Vitamin D receptor gene polymorphism with susceptibility and prognosis of Systemic Lupus Erythematosus in Chinese patients

Introduction: Systemic lupus erythematosus (SLE) is a complex autoimmune disease with multifactorial etiology involving both environmental and genetic factors. Previous studies have suggested a potential association between autoimmune diseases, including SLE, and polymorphisms in the vitamin D receptor gene (VDR). The study aimed to investigate the correlation between VDR SNPs, susceptibility to SLE, clinical parameters, and prognosis in the Chinese Han SLE population. Method: A total of 503 SLE patients and 461 healthy controls were recruited from Nanjing Drum Tower Hospital. Clinical manifestations, Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) scores, and clinical examination results were obtained. Four VDR gene polymorphisms (FokI, BsmI, ApaI, TaqI) were analyzed using MassARRAY® Iplex GOLD SNP genotyping. Results: Significant associations were observed between FokI (P<0.001) and ApaI (P<0.001) SNPs with susceptibility to SLE under the dominant model. Besides, FokI was associated with mucosal ulcer, while ApaI was associated with hematologic disorder, rash, photosensitivity, and anti-dsDNA positivity. Follow-up studies revealed that the FokI SNP was associated with worse prognosis in SLE patients. Conclusions: This study suggests that VDR SNPs may play a role in predisposition to SLE, as well as influencing clinical manifestations and prognosis in Chinese SLE patients.