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

Authors
  • Ruiz-Ballesteros, Adolfo I1, 2, 3
  • Meza-Meza, Mónica R1, 2, 4
  • Vizmanos-Lamotte, Barbara3, 5
  • Parra-Rojas, Isela6
  • de la Cruz-Mosso, Ulises1, 2, 3, 4
  • 1 Grupo de Inmunonutrición y Genómica Nutricional en las Enfermedades Autoinmunes, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara Jalisco 44160, Mexico. , (Mexico)
  • 2 Instituto de Investigación en Ciencias Biomédicas, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara Jalisco 44340, Mexico. , (Mexico)
  • 3 Programa de Doctorado en Ciencias de la Nutrición Traslacional, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara Jalisco 44340, Mexico. , (Mexico)
  • 4 Programa de Doctorado en Ciencias Biomédicas Inmunología, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara Jalisco 44340, Mexico. , (Mexico)
  • 5 Instituto de Nutrigenética y Nutrigenómica Traslacional, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara Jalisco 44340, Mexico. , (Mexico)
  • 6 Laboratorio de Investigación en Obesidad y Diabetes, Facultad de Ciencias Químico-Biológicas, Universidad Autónoma de Guerrero, Chilpancingo de los Bravo Guerrero 39087, Mexico. , (Mexico)
Type
Published Article
Journal
International Journal of Molecular Sciences
Publisher
MDPI AG
Publication Date
Dec 17, 2020
Volume
21
Issue
24
Identifiers
DOI: 10.3390/ijms21249626
PMID: 33348854
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

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.

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