Abstract
The immunomodulatory role of 1,25-dihydroxyvitamin D3 is well known. An association between vitamin D receptor (VDR) gene BsmI polymorphisms and systemic lupus erythematosus (SLE) has been reported. To examine the characteristics of VDR gene BsmI polymorphisms in patients with SLE and the relationship of polymorphisms to the susceptibility and clinical manifestations of SLE, VDR genotypings of 101 Thai patients with SLE and 194 healthy controls were performed based on polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The relationship between VDR gene BsmI polymorphisms and clinical manifestations of SLE was evaluated. The distribution of VDR genotyping in patients with SLE was 1.9% for BB (non-excisable allele homozygote), 21.78% for Bb (heterozygote), and 76.23% for bb (excisable allele homozygote). The distribution of VDR genotyping in the control group was 1.03% for BB, 15.98% for Bb, and 82.99% for bb. There was no statistically significant difference between the two groups (p = 0.357). The allelic distribution of B and b was similar within the groups (p = 0.173). The relationship between VDR genotype and clinical manifestation or laboratory profiles of SLE also cannot be statistically demonstrated. In conclusion, we cannot verify any association between VDR gene BsmI polymorphism and SLE. A larger study examining other VDR gene polymorphisms is proposed.
Highlights
The importance of genetic influences on systemic lupus erythematosus (SLE) has been recognized through cumulative genetic epidemiologic studies
Because a high prevalence and high clinical severity of SLE are observed in the Thai population, we examined the characteristics of VDR gene BsmI polymorphisms in bb = excisable allele homozygote; Bb = heterozygote; BB = non-excisable allele homozygote; HWE = Hardy-Weinberg equilibrium; IFN = interferon; IL = interleukin; SLE = systemic lupus erythematosus; Th = T helper cell; VDR = vitamin D receptor
The distribution of VDR genotyping in patients with SLE was 1.9% for BB, 21.78% for Bb, and 76.23% for bb
Summary
The importance of genetic influences on systemic lupus erythematosus (SLE) has been recognized through cumulative genetic epidemiologic studies. Many population-based studies have shown associations between the disease and alleles of immunologically relevant genes, including certain major histocompatibility complex (MHC) loci, Fcγ receptor, and cytokines [1]. 1,25-dihydroxyvitamin D3 inhibits the accumulation of mRNA for interleukin (IL)-2, interferon (IFN)-γ, and granulocyte-macrophage colony-stimulating factor (GM-CSF). The hormone interferes with T helper cell (Th) function, reducing Th induction of immunoglobulin production by B cells. 1,25dihydroxyvitamin D3 has been effective in prevention of autoimmune diseases such as experimental autoimmune encephalitis and murine lupus [2]. It has been demonstrated that patients with SLE have a lower level of 25 hydroxyvitamin D3 than do healthy controls [3]. High-dose 1,25-dihydroxyvitamin D3 and its analog may be useful therapeutic agents for psoriatic arthritis [4] and rheumatoid arthritis [5]
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