Influence of vitamin D receptor polymorphisms on biochemical markers of mineral bone disorders in South African patients with chronic kidney disease

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dc.contributor.authorWaziri, Bala
dc.contributor.authorDix-Peek, Therese
dc.contributor.authorDickens, Caroline
dc.contributor.authorDuarte, Raquel
dc.contributor.authorNaicker, Saraladevi
dc.date.accessioned2024-10-04T06:15:20Z
dc.date.available2024-10-04T06:15:20Z
dc.date.issued2018-02
dc.departmentInternal Medicine
dc.description.abstractBackground: It remains unclear whether genetic factors may explain the reported variation in the levels of biochemical markers of chronic kidney disease mineral and bone disorders (CKD- MBD) across ethnic groups. Therefore, the aim of this study was to examine the influence of vitamin D receptor (VDR) polymorphisms on secondary hyperparathyroidism and its association with vitamin D levels in black and white South African study participants. Methods: This was a cross sectional study involving 272 CKD stage 3- 5D patients and 90 healthy controls. The four major VDR polymorphisms (Bsm 1, Fok 1, Taq 1, and Apa1) were genotyped using the polymerase chain reaction- restriction fragment length polymorphism (PCR –RFLP) method. In addition, biochemical markers of CKD-MBD were measured to determine their associations with the four VDR polymorphisms. Results: With the exception of Taq I polymorphism, the distribution of the VDR polymorphisms differed significantly between blacks and whites. In hemodialysis patients, the Bb genotype was significantly associated with moderate secondary hyperparathyroidism (OR, 3.88; 95 CI 1.13–13.25, p = 0.03) and severe hyperparathyroidism (OR, 2.54; 95 CI 1.08–5.96, p = 0.03). This was consistent with the observed higher levels of median parathyroid hormone, fibroblast growth factor 23 and mean phosphate in patients with Bb genotype. This candidate risk genotype (Bb) was over represented in blacks compared to whites (71.0% versus 55.6%, p < 0.0001). In an unadjusted regression model, FokFf genotype was found to be significantly associated with the risk of developing severe vitamin D deficiency < 15 ng/ml (OR, 1.89; 95 CI 1.17–3.07, p = 0.01). Conclusion: The VDR Bb genotype is an independent predictor of developing secondary hyperparathyroidism in patients with end stage kidney disease. In addition, study participants with FokFf genotype are at increased of developing severe 25 -hydroxyvitamin D [25(OH)D] deficiency.
dc.description.sponsorshipAstraZeneca Research Trust fund.
dc.description.submitterPM2024
dc.facultyFaculty of Health Sciences
dc.identifier0000-0001-6291-6610
dc.identifier.issn1471-2369 (online)
dc.identifier.other10.1186/s12882-018-0831-7
dc.identifier.urihttps://hdl.handle.net/10539/41353
dc.journal.titleBMC Nephrology
dc.language.isoen
dc.relation.ispartofseriesVol.19; No.30
dc.rights© The Author(s). 2018 Open Access, This article is distributed under the terms of the Creative Commons Attribution 4.0 International License.
dc.schoolSchool of Clinical Medicine
dc.subjectChronic kidney disease
dc.subjectSecondary hyperparathyroidism
dc.subjectVDR polymorphisms
dc.subject.otherSDG-3: Good health and well-being
dc.titleInfluence of vitamin D receptor polymorphisms on biochemical markers of mineral bone disorders in South African patients with chronic kidney disease
dc.typeArticle
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