Vitamin D and polymorphisms of VDR gene in patients with systemic lupus erythematosus.
The susceptibility for the development of systemic lupus erythematosus (SLE) is related to environmental, hormonal, genetic, and immunological factors. Numerous genes have been linked to the emergence of SLE, including vitamin D receptor (VDR) gene that synthesizes the receptor of vitamin D. Several polymorphisms have been described since the discovery of this gene, and their effects on VDR activity are still poorly understood. Vitamin D's biological functions are mediated by VDR. Vitamin D exerts many actions on the immune system, and several studies have suggested its role in the pathogenesis of autoimmune diseases. SLE patients have low blood levels of vitamin D, which raises the possibility of association between the deficiency of this vitamin and the onset of the disease. BsmI and FokI polymorphic variants seem to be related to the onset of the disease in Asian patients. In this article, we review the aspects related to the metabolism and immunoregulatory effects of vitamin D, VDR, and main polymorphisms involving the VDR gene and the relationship between vitamin D levels and its receptor with SLE.
Division of Rheumatology, Department of Internal Medicine, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, 2350-Largo Eduardo Zaccaro Faraco, Sala 645, 6º andar, Porto Alegre 90035-903, Rio Grande do Sul, Brazil. omonticielo@yahoo.com.br
Odirlei André
OA
Monticielo
Thaisa de Mattos
Tde M
Teixeira
José Artur Bogo
JA
Chies
João Carlos Tavares
JC
Brenol
Ricardo Machado
RM
Xavier
D001327:Autoimmune Diseases / Q000503:physiopathology; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology*; D011110:Polymorphism, Genetic / Q000235:genetics* / Q000502:physiology; D018167:Receptors, Calcitriol / Q000235:genetics* / Q000502:physiology; D012307:Risk Factors; D014807:Vitamin D / Q000097:blood / Q000502:physiology*; D014808:Vitamin D Deficiency / Q000097:blood / Q000150:complications / Q000503:physiopathology
D018167:Receptors, Calcitriol; D014807:Vitamin D