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Vitamin D Receptor (VDR) Genetic Variants: Relationship of FokI Genotypes with VDR Expression and Clinical Disease Activity in Systemic Lupus Erythematosus Patients
Vitamin D (VD) deficiency is more frequent in systemic lupus erythematosus (SLE) patients than in control subjects (CS); genetic variants in the VD receptor (VDR) could contribute to the clinical disease activity. This study was aimed to determine the association of the VDR variants FokI (rs2228570)...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9689830/ https://www.ncbi.nlm.nih.gov/pubmed/36360253 http://dx.doi.org/10.3390/genes13112016 |
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author | Meza-Meza, Mónica R. Vizmanos, Barbara Rivera-Escoto, Melissa Ruiz-Ballesteros, Adolfo I. Pesqueda-Cendejas, Karen Parra-Rojas, Isela Montoya-Buelna, Margarita Luquín, Sonia Campos-López, Bertha Mora-García, Paulina E. Cerpa-Cruz, Sergio De la Cruz-Mosso, Ulises |
author_facet | Meza-Meza, Mónica R. Vizmanos, Barbara Rivera-Escoto, Melissa Ruiz-Ballesteros, Adolfo I. Pesqueda-Cendejas, Karen Parra-Rojas, Isela Montoya-Buelna, Margarita Luquín, Sonia Campos-López, Bertha Mora-García, Paulina E. Cerpa-Cruz, Sergio De la Cruz-Mosso, Ulises |
author_sort | Meza-Meza, Mónica R. |
collection | PubMed |
description | Vitamin D (VD) deficiency is more frequent in systemic lupus erythematosus (SLE) patients than in control subjects (CS); genetic variants in the VD receptor (VDR) could contribute to the clinical disease activity. This study was aimed to determine the association of the VDR variants FokI (rs2228570), BsmI (rs1544410), ApaI (rs7975232), and TaqI (rs731236) with susceptibility to the disease, VD status, VDR mRNA expression, and clinical disease activity in SLE patients. A cross-sectional study was conducted in 194 SLE and 196 CS Mexican women. Immunoassays quantified serum calcidiol and calcitriol. Genotyping was performed by allelic discrimination assays and mRNA VDR expression by qPCR. The FokI variant was not in linkage disequilibrium with BsmI, ApaI, and TaqI VDR variants. SLE patient carriers of the TT FokI genotype showed higher clinical disease activity scores. Notably, the mRNA VDR expression was higher in SLE patients vs. CS, in active vs. inactive SLE patients, and in participants of both study groups with vitamin D deficiency, higher calcitriol levels, and TT FokI genotype carriers. In conclusion, the TT FokI VDR genotype was related to high VDR expression and clinical disease activity in systemic lupus erythematosus patients. |
format | Online Article Text |
id | pubmed-9689830 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-96898302022-11-25 Vitamin D Receptor (VDR) Genetic Variants: Relationship of FokI Genotypes with VDR Expression and Clinical Disease Activity in Systemic Lupus Erythematosus Patients Meza-Meza, Mónica R. Vizmanos, Barbara Rivera-Escoto, Melissa Ruiz-Ballesteros, Adolfo I. Pesqueda-Cendejas, Karen Parra-Rojas, Isela Montoya-Buelna, Margarita Luquín, Sonia Campos-López, Bertha Mora-García, Paulina E. Cerpa-Cruz, Sergio De la Cruz-Mosso, Ulises Genes (Basel) Article Vitamin D (VD) deficiency is more frequent in systemic lupus erythematosus (SLE) patients than in control subjects (CS); genetic variants in the VD receptor (VDR) could contribute to the clinical disease activity. This study was aimed to determine the association of the VDR variants FokI (rs2228570), BsmI (rs1544410), ApaI (rs7975232), and TaqI (rs731236) with susceptibility to the disease, VD status, VDR mRNA expression, and clinical disease activity in SLE patients. A cross-sectional study was conducted in 194 SLE and 196 CS Mexican women. Immunoassays quantified serum calcidiol and calcitriol. Genotyping was performed by allelic discrimination assays and mRNA VDR expression by qPCR. The FokI variant was not in linkage disequilibrium with BsmI, ApaI, and TaqI VDR variants. SLE patient carriers of the TT FokI genotype showed higher clinical disease activity scores. Notably, the mRNA VDR expression was higher in SLE patients vs. CS, in active vs. inactive SLE patients, and in participants of both study groups with vitamin D deficiency, higher calcitriol levels, and TT FokI genotype carriers. In conclusion, the TT FokI VDR genotype was related to high VDR expression and clinical disease activity in systemic lupus erythematosus patients. MDPI 2022-11-03 /pmc/articles/PMC9689830/ /pubmed/36360253 http://dx.doi.org/10.3390/genes13112016 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Meza-Meza, Mónica R. Vizmanos, Barbara Rivera-Escoto, Melissa Ruiz-Ballesteros, Adolfo I. Pesqueda-Cendejas, Karen Parra-Rojas, Isela Montoya-Buelna, Margarita Luquín, Sonia Campos-López, Bertha Mora-García, Paulina E. Cerpa-Cruz, Sergio De la Cruz-Mosso, Ulises Vitamin D Receptor (VDR) Genetic Variants: Relationship of FokI Genotypes with VDR Expression and Clinical Disease Activity in Systemic Lupus Erythematosus Patients |
title | Vitamin D Receptor (VDR) Genetic Variants: Relationship of FokI Genotypes with VDR Expression and Clinical Disease Activity in Systemic Lupus Erythematosus Patients |
title_full | Vitamin D Receptor (VDR) Genetic Variants: Relationship of FokI Genotypes with VDR Expression and Clinical Disease Activity in Systemic Lupus Erythematosus Patients |
title_fullStr | Vitamin D Receptor (VDR) Genetic Variants: Relationship of FokI Genotypes with VDR Expression and Clinical Disease Activity in Systemic Lupus Erythematosus Patients |
title_full_unstemmed | Vitamin D Receptor (VDR) Genetic Variants: Relationship of FokI Genotypes with VDR Expression and Clinical Disease Activity in Systemic Lupus Erythematosus Patients |
title_short | Vitamin D Receptor (VDR) Genetic Variants: Relationship of FokI Genotypes with VDR Expression and Clinical Disease Activity in Systemic Lupus Erythematosus Patients |
title_sort | vitamin d receptor (vdr) genetic variants: relationship of foki genotypes with vdr expression and clinical disease activity in systemic lupus erythematosus patients |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9689830/ https://www.ncbi.nlm.nih.gov/pubmed/36360253 http://dx.doi.org/10.3390/genes13112016 |
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