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Association of Vitamin D Metabolism Gene Polymorphisms with Autoimmunity: Evidence in Population Genetic Studies

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Grupo de Inmunonutrición y Genómica Nutricional en las Enfermedades Autoinmunes, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara Jalisco 44160, Mexico
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Instituto de Investigación en Ciencias Biomédicas, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara Jalisco 44340, Mexico
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Programa de Doctorado en Ciencias de la Nutrición Traslacional, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara Jalisco 44340, Mexico
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Programa de Doctorado en Ciencias Biomédicas Inmunología, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara Jalisco 44340, Mexico
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Instituto de Nutrigenética y Nutrigenómica Traslacional, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara Jalisco 44340, Mexico
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Laboratorio de Investigación en Obesidad y Diabetes, Facultad de Ciencias Químico-Biológicas, Universidad Autónoma de Guerrero, Chilpancingo de los Bravo Guerrero 39087, Mexico
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2020, 21(24), 9626; https://doi.org/10.3390/ijms21249626
Received: 19 October 2020 / Revised: 8 December 2020 / Accepted: 15 December 2020 / Published: 17 December 2020
(This article belongs to the Special Issue Nutrigenomics in Health and Diseases)
A high prevalence of vitamin D (calcidiol) serum deficiency has been described in several autoimmune diseases, including multiple sclerosis (MS), rheumatoid arthritis (AR), and systemic lupus erythematosus (SLE). Vitamin D is a potent immunonutrient that through its main metabolite calcitriol, regulates the immunomodulation of macrophages, dendritic cells, T and B lymphocytes, which express the vitamin D receptor (VDR), and they produce and respond to calcitriol. Genetic association studies have shown that up to 65% of vitamin D serum variance may be explained due to genetic background. The 90% of genetic variability takes place in the form of single nucleotide polymorphisms (SNPs), and SNPs in genes related to vitamin D metabolism have been linked to influence the calcidiol serum levels, such as in the vitamin D binding protein (VDBP; rs2282679 GC), 25-hydroxylase (rs10751657 CYP2R1), 1α-hydroxylase (rs10877012, CYP27B1) and the vitamin D receptor (FokI (rs2228570), BsmI (rs1544410), ApaI (rs7975232), and TaqI (rs731236) VDR). Therefore, the aim of this comprehensive literature review was to discuss the current findings of functional SNPs in GC, CYP2R1, CYP27B1, and VDR associated to genetic risk, and the most common clinical features of MS, RA, and SLE. View Full-Text
Keywords: vitamin D polymorphisms; autoimmune disease; GC; CYP2R1; CYP27B1; VDR vitamin D polymorphisms; autoimmune disease; GC; CYP2R1; CYP27B1; VDR
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MDPI and ACS Style

Ruiz-Ballesteros, A.I.; Meza-Meza, M.R.; Vizmanos-Lamotte, B.; Parra-Rojas, I.; de la Cruz-Mosso, U. Association of Vitamin D Metabolism Gene Polymorphisms with Autoimmunity: Evidence in Population Genetic Studies. Int. J. Mol. Sci. 2020, 21, 9626. https://doi.org/10.3390/ijms21249626

AMA Style

Ruiz-Ballesteros AI, Meza-Meza MR, Vizmanos-Lamotte B, Parra-Rojas I, de la Cruz-Mosso U. Association of Vitamin D Metabolism Gene Polymorphisms with Autoimmunity: Evidence in Population Genetic Studies. International Journal of Molecular Sciences. 2020; 21(24):9626. https://doi.org/10.3390/ijms21249626

Chicago/Turabian Style

Ruiz-Ballesteros, Adolfo I., Mónica R. Meza-Meza, Barbara Vizmanos-Lamotte, Isela Parra-Rojas, and Ulises de la Cruz-Mosso. 2020. "Association of Vitamin D Metabolism Gene Polymorphisms with Autoimmunity: Evidence in Population Genetic Studies" International Journal of Molecular Sciences 21, no. 24: 9626. https://doi.org/10.3390/ijms21249626

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