Vitamin D receptor gene BsmI, FokI, ApaI and TaqI polymorphisms and the risk of systemic lupus erythematosus

We studied the prevalence of the vitamin D receptor FokI, BsmI, ApaI and TaqI genotypes and alleles in Systemic lupus erythematosus patients and healthy individuals in a Polish population

Adrianna Mostowska


Scholarcy highlights

  • Systemic lupus erythematosus is an autoimmune disease for which the underlying cause remains unclear
  • The immune system in patients with SLE is characterized by an enhanced humoral response and decreased T cell cytotoxicity
  • Vitamin D functions to regulate various immune cells, and an abnormal vitamin D level has been documented in SLE patients in various populations
  • Low vitamin D levels were associated with higher disease activity in Malaysian, Egyptian, Chinese, Israeli and European cohorts
  • The decline of vitamin D concentration in SLE patients was associated with the presence of aortic stiffness, leucopenia, renal disease, increased anti-C1q and anti-dsDNA titers, dyslipidemia and increased cardiovascular risk
  • Administration of 1,25(OH)2D3 to mice with SLE resulted in a protective role in the development of this autoimmune disease
  • Our study did not demonstrate that the FokI, BsmI, ApaI and TaqI vitamin D receptor single nucleotide polymorphisms are risk factors of Systemic lupus erythematosus in the Polish population, but we found an association of the FokI polymorphism with renal manifestations in SLE patients

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