Vitamin D receptor polymorphisms and bone health after kidney transplantation

Korucu, Berfu; Tükün, Ajlan; Helvacı, Özant; Yeter, Hasan; Gönen, Sevim; Güz, Galip; Arınsoy, Turgay

doi:10.3906/sag-1911-156

Cited by 3 publications

(1 citation statement)

References 31 publications

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“…Single nucleotide polymorphisms (SNPs) located in intronic and 3′ untranslated regions of the BMP6 gene were previously associated with osteonecrosis in three independent SCA cohorts 7–9 . Despite the lack of previous investigations with SCA, functional VDR SNPs FokI (rs2228570) and Cdx2 (rs11568820) were associated with bone‐related diseases such as glucocorticoid‐induced osteonecrosis, 22 bone mineral density, 23 lumbar spine pathologies 24 and others. VDR FokI is a start codon variant that affects VDR efficiency as a transcriptional activator, while Cdx2 is a variant situated in the promoter region at the 5′ end of the VDR gene, impacting VDR expression in the small intestine 25,26 .…”

Section: Introductionmentioning

confidence: 99%

BMP6 and VDR gene polymorphisms are associated with osteonecrosis in a sickle cell anaemia cohort

Arcanjo,

Souza,

Domingos

et al. 2024

Br J Haematol

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SummaryThe occurrence and severity of osteonecrosis in sickle cell anaemia (SCA) vary due to risk factors, including genetic modifiers. Bone morphogenetic proteins (BMPs), particularly BMP6, and the vitamin D receptor (VDR) play key roles in cartilage and bone metabolism, making them potential contributors to orthopaedic outcomes in SCA. Here, we evaluated the association of polymorphisms in BMP6 (rs3812163, rs270393 and rs449853) and VDR (FokI rs2228570 and Cdx2 rs11568820) genes with osteonecrosis risk in a Brazilian SCA cohort. A total of 177 unrelated SCA patients were selected. The AA genotype of BMP6 rs3812163 was independently associated with a lower osteonecrosis risk (p = 0.015; odds ratio (OR): 0.38; 95% confidence interval (CI): 0.18–0.83) and with the long‐term cumulative incidence of osteonecrosis (p = 0.029; hazard ratio: 0.56, 95% CI: 0.34–0.94). The VDR rs2228570 TT genotype was independently associated with a lower osteonecrosis risk (p = 0.039; OR: 0.14; 95% CI: 0.02–0.90). In summary, our results provide evidence that BMP6 rs3812163 and the VDR rs2228570 might be implicated in osteonecrosis pathophysiology in SCA and might help identify individuals at high risk.

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Section: Introductionmentioning

confidence: 99%

BMP6 and VDR gene polymorphisms are associated with osteonecrosis in a sickle cell anaemia cohort

Arcanjo,

Souza,

Domingos

et al. 2024

Br J Haematol

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Vitamin D Receptor and Vitamin D Binding Protein Gene Polymorphisms Are Associated with Renal Allograft Outcome

et al. 2021

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Vitamin D deficiency has adverse effects on renal allograft outcomes, and polymorphisms of genes encoding vitamin D-binding protein (VDBP) and vitamin D receptor (VDR) are defined to play a role in these conditions. The goal of the current investigation was to evaluate the connection between those polymorphisms with acute rejection, viral infection history, and recipients’ vitamin D status. In this study, 115 kidney transplant recipients and 100 healthy individuals were included. VDR polymorphisms including FokI (rs2228570), Apal (rs7975232), BsmI (rs1544410), as well as VDBP (rs7040) polymorphisms were studied using high resolution melting (PCR-HRM) analysis among the studied groups. The frequency of G allele in Apal rs7975232 polymorphism in the kidney transplant recipients was 0.63 times lower than healthy individuals (p = 0.026). Further, the G allele frequency in VDBP rs7040 polymorphism was significantly lower in patients with allograft rejection (p = 0.002). Considering the incidence of viral infection, significant differences were identified between the frequencies of VDR FokI (OR = 2.035; 95% CI 1.06–2.89, p = 0.030) and VDBP rs7040 (OR = 0.40; 95% CI 0.24–0.67, p < 0.001) T alleles in the studied groups. Moreover, the VDBP rs7040 GG genotype distribution was low in the recipients with a history of viral infection (p = 0.004). VDR (FokI) and VDBP (rs7040) alleles and their genotype distribution are significantly associated with allograft outcomes including allograft rejection and viral infection in the studied population.

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Vitamin D Receptor (VDR) Gene Polymorphisms and High-Turnover Renal Osteodystrophy or Secondary Hyperparathyroidism in End-Stage Renal Disease: A Systematic Review

Sinha,

Mushtaq,

Ali

et al. 2024

Cureus

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Chronic kidney disease (CKD) and end-stage renal disease (ESRD) are often complicated by high-turnover renal osteodystrophy (HTRO) and secondary hyperparathyroidism (SHPT), characterized by disturbances in mineral metabolism and skeletal abnormalities. Genetic variations within the vitamin D receptor (VDR) gene, known as VDR gene polymorphisms, have been implicated in modulating the susceptibility to HTRO and SHPT. This systematic review aims to evaluate the existing literature on the association between VDR gene polymorphisms and the development of these complications in ESRD and hemodialysis patients. A comprehensive literature search across multiple databases was conducted, and studies investigating VDR gene polymorphisms and HTRO or SHPT in ESRD or hemodialysis patients were included. The included studies examined various VDR gene polymorphisms, such as BsmI, ApaI, TaqI, and FokI, and their associations with clinical outcomes like parathyroid hormone (PTH) levels, bone mineral density, and the development of SHPT or HTRO. The findings suggest that certain VDR gene polymorphisms, notably the ApaI "aa" genotype, BsmI "bb" genotype, TaqI "tt" genotype, and FokI variant, may contribute to the pathogenesis of SHPT and HTRO by affecting PTH levels, bone turnover markers, and vitamin D sensitivity. However, the studies had relatively small sample sizes and were conducted in different populations, limiting generalizability. Further larger-scale studies, functional investigations, and exploration of geneenvironment interactions are warranted to elucidate the underlying mechanisms and facilitate personalized treatment approaches for CKD and ESRD patients with mineral and bone disorders.

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Vitamin D receptor polymorphisms and bone health after kidney transplantation

Cited by 3 publications

References 31 publications

BMP6 and VDR gene polymorphisms are associated with osteonecrosis in a sickle cell anaemia cohort

BMP6 and VDR gene polymorphisms are associated with osteonecrosis in a sickle cell anaemia cohort

Vitamin D Receptor and Vitamin D Binding Protein Gene Polymorphisms Are Associated with Renal Allograft Outcome

Vitamin D Receptor (VDR) Gene Polymorphisms and High-Turnover Renal Osteodystrophy or Secondary Hyperparathyroidism in End-Stage Renal Disease: A Systematic Review

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