Genetic Polymorphism of <i>CYP2R1</i>, <i>CYP27A1</i>, <i>CYP27B1</i>, and Vitamin D Metabolites Plasma Levels in Patients with Cardiovascular Disease: A Pilot Study
The active form of vitamin D, calcitriol (1,25(OH)<sub>2</sub>D<sub>3</sub>), is produced from 25(OH)D<sub>3</sub> via enzymes encoded by <i>CYP2R1</i>, <i>CYP27A1</i>, and <i>CYP27B1</i>. Polymorphisms in these genes may alter...
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2025-05-01
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| author | Mohamed Abouzid Łukasz Kruszyna Dominika Kaczmarek Leonid Kagan Aniceta Ada Mikulska-Sauermann Dorota Filipowicz Matylda Resztak Franciszek K. Główka Marta Karaźniewicz-Łada |
| author_facet | Mohamed Abouzid Łukasz Kruszyna Dominika Kaczmarek Leonid Kagan Aniceta Ada Mikulska-Sauermann Dorota Filipowicz Matylda Resztak Franciszek K. Główka Marta Karaźniewicz-Łada |
| author_sort | Mohamed Abouzid |
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| description | The active form of vitamin D, calcitriol (1,25(OH)<sub>2</sub>D<sub>3</sub>), is produced from 25(OH)D<sub>3</sub> via enzymes encoded by <i>CYP2R1</i>, <i>CYP27A1</i>, and <i>CYP27B1</i>. Polymorphisms in these genes may alter vitamin D metabolism and increase cardiovascular disease risk. This preliminary study investigated these polymorphisms in 27 patients with cardiovascular disease and 26 healthy volunteers using Polymerase Chain Reaction—Restriction Fragment Length Polymorphism (PCR-RFLP), while measuring 25(OH)D<sub>3</sub> and 1,25(OH)<sub>2</sub>D<sub>3</sub> concentrations by UPLC-MS/MS and ELISA, respectively. Among patients, those with the GT genotype of <i>rs10877012</i> (<i>CYP27B1</i>) had higher 25(OH)D<sub>3</sub> levels compared to other genotypes. Additionally, this polymorphism was associated with lower 1,25(OH)<sub>2</sub>D<sub>3</sub> in TT homozygotes, suggesting reduced <i>CYP27B1</i> activity. Furthermore, the TT genotype of <i>rs6709815</i> (<i>CYP27A1</i>) was three times more prevalent in cardiac patients than in healthy controls, possibly indicating increased susceptibility to the disease. Although these findings suggest a genetic influence on vitamin D metabolism in cardiovascular disease, larger and more comprehensive studies are needed to confirm these associations. |
| format | Article |
| id | doaj-art-39b5a311d6314a55927b239db2c8bd26 |
| institution | Kabale University |
| issn | 2218-273X |
| language | English |
| publishDate | 2025-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Biomolecules |
| spelling | doaj-art-39b5a311d6314a55927b239db2c8bd262025-08-20T03:47:53ZengMDPI AGBiomolecules2218-273X2025-05-0115569910.3390/biom15050699Genetic Polymorphism of <i>CYP2R1</i>, <i>CYP27A1</i>, <i>CYP27B1</i>, and Vitamin D Metabolites Plasma Levels in Patients with Cardiovascular Disease: A Pilot StudyMohamed Abouzid0Łukasz Kruszyna1Dominika Kaczmarek2Leonid Kagan3Aniceta Ada Mikulska-Sauermann4Dorota Filipowicz5Matylda Resztak6Franciszek K. Główka7Marta Karaźniewicz-Łada8Department of Physical Pharmacy and Pharmacokinetics, Poznan University of Medical Sciences, Rokietnicka 3, 60-806 Poznan, PolandDepartment of Vascular and Endovascular Surgery, Angiology and Phlebology, Poznan University of Medical Sciences, Długa ½, 60-848 Poznan, PolandDepartment of Physical Pharmacy and Pharmacokinetics, Poznan University of Medical Sciences, Rokietnicka 3, 60-806 Poznan, PolandDepartment of Pharmaceutics, Center of Excellence for Pharmaceutical Translational Research and Education, Ernest Mario School of Pharmacy, Rutgers, the State University of New Jersey, Piscataway, NJ 0885, USADepartment of Physical Pharmacy and Pharmacokinetics, Poznan University of Medical Sciences, Rokietnicka 3, 60-806 Poznan, PolandDepartment of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, 49 Przybyszewskiego Street, 60-355 Poznan, PolandDepartment of Physical Pharmacy and Pharmacokinetics, Poznan University of Medical Sciences, Rokietnicka 3, 60-806 Poznan, PolandDepartment of Physical Pharmacy and Pharmacokinetics, Poznan University of Medical Sciences, Rokietnicka 3, 60-806 Poznan, PolandDepartment of Physical Pharmacy and Pharmacokinetics, Poznan University of Medical Sciences, Rokietnicka 3, 60-806 Poznan, PolandThe active form of vitamin D, calcitriol (1,25(OH)<sub>2</sub>D<sub>3</sub>), is produced from 25(OH)D<sub>3</sub> via enzymes encoded by <i>CYP2R1</i>, <i>CYP27A1</i>, and <i>CYP27B1</i>. Polymorphisms in these genes may alter vitamin D metabolism and increase cardiovascular disease risk. This preliminary study investigated these polymorphisms in 27 patients with cardiovascular disease and 26 healthy volunteers using Polymerase Chain Reaction—Restriction Fragment Length Polymorphism (PCR-RFLP), while measuring 25(OH)D<sub>3</sub> and 1,25(OH)<sub>2</sub>D<sub>3</sub> concentrations by UPLC-MS/MS and ELISA, respectively. Among patients, those with the GT genotype of <i>rs10877012</i> (<i>CYP27B1</i>) had higher 25(OH)D<sub>3</sub> levels compared to other genotypes. Additionally, this polymorphism was associated with lower 1,25(OH)<sub>2</sub>D<sub>3</sub> in TT homozygotes, suggesting reduced <i>CYP27B1</i> activity. Furthermore, the TT genotype of <i>rs6709815</i> (<i>CYP27A1</i>) was three times more prevalent in cardiac patients than in healthy controls, possibly indicating increased susceptibility to the disease. Although these findings suggest a genetic influence on vitamin D metabolism in cardiovascular disease, larger and more comprehensive studies are needed to confirm these associations.https://www.mdpi.com/2218-273X/15/5/699<i>CYP2R1</i><i>CYP27A1</i><i>CYP27B1</i>calcitriolcalcidiolcardiovascular disease |
| spellingShingle | Mohamed Abouzid Łukasz Kruszyna Dominika Kaczmarek Leonid Kagan Aniceta Ada Mikulska-Sauermann Dorota Filipowicz Matylda Resztak Franciszek K. Główka Marta Karaźniewicz-Łada Genetic Polymorphism of <i>CYP2R1</i>, <i>CYP27A1</i>, <i>CYP27B1</i>, and Vitamin D Metabolites Plasma Levels in Patients with Cardiovascular Disease: A Pilot Study Biomolecules <i>CYP2R1</i> <i>CYP27A1</i> <i>CYP27B1</i> calcitriol calcidiol cardiovascular disease |
| title | Genetic Polymorphism of <i>CYP2R1</i>, <i>CYP27A1</i>, <i>CYP27B1</i>, and Vitamin D Metabolites Plasma Levels in Patients with Cardiovascular Disease: A Pilot Study |
| title_full | Genetic Polymorphism of <i>CYP2R1</i>, <i>CYP27A1</i>, <i>CYP27B1</i>, and Vitamin D Metabolites Plasma Levels in Patients with Cardiovascular Disease: A Pilot Study |
| title_fullStr | Genetic Polymorphism of <i>CYP2R1</i>, <i>CYP27A1</i>, <i>CYP27B1</i>, and Vitamin D Metabolites Plasma Levels in Patients with Cardiovascular Disease: A Pilot Study |
| title_full_unstemmed | Genetic Polymorphism of <i>CYP2R1</i>, <i>CYP27A1</i>, <i>CYP27B1</i>, and Vitamin D Metabolites Plasma Levels in Patients with Cardiovascular Disease: A Pilot Study |
| title_short | Genetic Polymorphism of <i>CYP2R1</i>, <i>CYP27A1</i>, <i>CYP27B1</i>, and Vitamin D Metabolites Plasma Levels in Patients with Cardiovascular Disease: A Pilot Study |
| title_sort | genetic polymorphism of i cyp2r1 i i cyp27a1 i i cyp27b1 i and vitamin d metabolites plasma levels in patients with cardiovascular disease a pilot study |
| topic | <i>CYP2R1</i> <i>CYP27A1</i> <i>CYP27B1</i> calcitriol calcidiol cardiovascular disease |
| url | https://www.mdpi.com/2218-273X/15/5/699 |
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