Vitamin D Receptor (<i>VDR</i>) Genetic Variants: Relationship of <i>FokI</i> Genotypes with <i>VDR</i> 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 (<i>VDR</i>) could contribute to the clinical disease activity. This study was aimed to determine the association of the <i>V...
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| Format: | Article |
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MDPI AG
2022-11-01
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| Online Access: | https://www.mdpi.com/2073-4425/13/11/2016 |
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| author | Mónica R. Meza-Meza Barbara Vizmanos Melissa Rivera-Escoto Adolfo I. Ruiz-Ballesteros Karen Pesqueda-Cendejas Isela Parra-Rojas Margarita Montoya-Buelna Sonia Luquín Bertha Campos-López Paulina E. Mora-García Sergio Cerpa-Cruz Ulises De la Cruz-Mosso |
| author_facet | Mónica R. Meza-Meza Barbara Vizmanos Melissa Rivera-Escoto Adolfo I. Ruiz-Ballesteros Karen Pesqueda-Cendejas Isela Parra-Rojas Margarita Montoya-Buelna Sonia Luquín Bertha Campos-López Paulina E. Mora-García Sergio Cerpa-Cruz Ulises De la Cruz-Mosso |
| author_sort | Mónica R. Meza-Meza |
| collection | DOAJ |
| 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 (<i>VDR</i>) could contribute to the clinical disease activity. This study was aimed to determine the association of the <i>VDR</i> variants <i>FokI</i> (rs2228570), <i>BsmI</i> (rs1544410), <i>ApaI</i> (rs7975232), and <i>TaqI</i> (rs731236) with susceptibility to the disease, VD status, <i>VDR</i> 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 <i>VDR</i> expression by qPCR. The <i>FokI</i> variant was not in linkage disequilibrium with <i>BsmI</i>, <i>ApaI,</i> and <i>TaqI VDR</i> variants. SLE patient carriers of the TT <i>FokI</i> genotype showed higher clinical disease activity scores. Notably, the mRNA <i>VDR</i> 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 <i>FokI</i> genotype carriers. In conclusion, the TT <i>FokI VDR</i> genotype was related to high <i>VDR</i> expression and clinical disease activity in systemic lupus erythematosus patients. |
| first_indexed | 2024-03-09T19:03:28Z |
| format | Article |
| id | doaj.art-5cf15f07aab640799a9c1c1a411a81fe |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-09T19:03:28Z |
| publishDate | 2022-11-01 |
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| series | Genes |
| spelling | doaj.art-5cf15f07aab640799a9c1c1a411a81fe2023-11-24T04:48:28ZengMDPI AGGenes2073-44252022-11-011311201610.3390/genes13112016Vitamin D Receptor (<i>VDR</i>) Genetic Variants: Relationship of <i>FokI</i> Genotypes with <i>VDR</i> Expression and Clinical Disease Activity in Systemic Lupus Erythematosus PatientsMónica R. Meza-Meza0Barbara Vizmanos1Melissa Rivera-Escoto2Adolfo I. Ruiz-Ballesteros3Karen Pesqueda-Cendejas4Isela Parra-Rojas5Margarita Montoya-Buelna6Sonia Luquín7Bertha Campos-López8Paulina E. Mora-García9Sergio Cerpa-Cruz10Ulises De la Cruz-Mosso11Red de Inmunonutrición y Genómica Nutricional en las Enfermedades Autoinmunes, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, MexicoRed de Inmunonutrición y Genómica Nutricional en las Enfermedades Autoinmunes, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, MexicoRed de Inmunonutrición y Genómica Nutricional en las Enfermedades Autoinmunes, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, MexicoRed de Inmunonutrición y Genómica Nutricional en las Enfermedades Autoinmunes, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, MexicoRed de Inmunonutrición y Genómica Nutricional en las Enfermedades Autoinmunes, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, MexicoRed de Inmunonutrición y Genómica Nutricional en las Enfermedades Autoinmunes, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, MexicoRed de Inmunonutrición y Genómica Nutricional en las Enfermedades Autoinmunes, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, MexicoInstituto de Neurociencias Traslacionales, Departamento de Neurociencias, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, MexicoRed de Inmunonutrición y Genómica Nutricional en las Enfermedades Autoinmunes, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, MexicoRed de Inmunonutrición y Genómica Nutricional en las Enfermedades Autoinmunes, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, MexicoDepartamento de Reumatología, O.P.D. Hospital Civil de Guadalajara Fray Antonio Alcalde, Guadalajara 44280, MexicoRed de Inmunonutrición y Genómica Nutricional en las Enfermedades Autoinmunes, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, MexicoVitamin D (VD) deficiency is more frequent in systemic lupus erythematosus (SLE) patients than in control subjects (CS); genetic variants in the VD receptor (<i>VDR</i>) could contribute to the clinical disease activity. This study was aimed to determine the association of the <i>VDR</i> variants <i>FokI</i> (rs2228570), <i>BsmI</i> (rs1544410), <i>ApaI</i> (rs7975232), and <i>TaqI</i> (rs731236) with susceptibility to the disease, VD status, <i>VDR</i> 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 <i>VDR</i> expression by qPCR. The <i>FokI</i> variant was not in linkage disequilibrium with <i>BsmI</i>, <i>ApaI,</i> and <i>TaqI VDR</i> variants. SLE patient carriers of the TT <i>FokI</i> genotype showed higher clinical disease activity scores. Notably, the mRNA <i>VDR</i> 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 <i>FokI</i> genotype carriers. In conclusion, the TT <i>FokI VDR</i> genotype was related to high <i>VDR</i> expression and clinical disease activity in systemic lupus erythematosus patients.https://www.mdpi.com/2073-4425/13/11/2016<i>VDR</i>polymorphism<i>FokI</i><i>BsmI</i><i>ApaI</i><i>TaqI</i> |
| spellingShingle | Mónica R. Meza-Meza Barbara Vizmanos Melissa Rivera-Escoto Adolfo I. Ruiz-Ballesteros Karen Pesqueda-Cendejas Isela Parra-Rojas Margarita Montoya-Buelna Sonia Luquín Bertha Campos-López Paulina E. Mora-García Sergio Cerpa-Cruz Ulises De la Cruz-Mosso Vitamin D Receptor (<i>VDR</i>) Genetic Variants: Relationship of <i>FokI</i> Genotypes with <i>VDR</i> Expression and Clinical Disease Activity in Systemic Lupus Erythematosus Patients Genes <i>VDR</i> polymorphism <i>FokI</i> <i>BsmI</i> <i>ApaI</i> <i>TaqI</i> |
| title | Vitamin D Receptor (<i>VDR</i>) Genetic Variants: Relationship of <i>FokI</i> Genotypes with <i>VDR</i> Expression and Clinical Disease Activity in Systemic Lupus Erythematosus Patients |
| title_full | Vitamin D Receptor (<i>VDR</i>) Genetic Variants: Relationship of <i>FokI</i> Genotypes with <i>VDR</i> Expression and Clinical Disease Activity in Systemic Lupus Erythematosus Patients |
| title_fullStr | Vitamin D Receptor (<i>VDR</i>) Genetic Variants: Relationship of <i>FokI</i> Genotypes with <i>VDR</i> Expression and Clinical Disease Activity in Systemic Lupus Erythematosus Patients |
| title_full_unstemmed | Vitamin D Receptor (<i>VDR</i>) Genetic Variants: Relationship of <i>FokI</i> Genotypes with <i>VDR</i> Expression and Clinical Disease Activity in Systemic Lupus Erythematosus Patients |
| title_short | Vitamin D Receptor (<i>VDR</i>) Genetic Variants: Relationship of <i>FokI</i> Genotypes with <i>VDR</i> Expression and Clinical Disease Activity in Systemic Lupus Erythematosus Patients |
| title_sort | vitamin d receptor i vdr i genetic variants relationship of i foki i genotypes with i vdr i expression and clinical disease activity in systemic lupus erythematosus patients |
| topic | <i>VDR</i> polymorphism <i>FokI</i> <i>BsmI</i> <i>ApaI</i> <i>TaqI</i> |
| url | https://www.mdpi.com/2073-4425/13/11/2016 |
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