Vitamin D receptor gene polymorphisms in chronic kidney disease Egyptian children: effect on biochemical markers of bone mineral disorders

Elshamaa, Manal F.; Eryan, Eman; Hamed, Hanan; Khalifa, Iman; Kamel, Solaf; Ibrahim, Mona H.; Kandil, Dina; Farouk, Hebatallah; Raafat, Mona; Haleem, Dalia A. Abd-El; Mahmoud, Eman A.; El-Saeed, Gamila S. M.; Hashish, Maha Abo; Elhamid, Enas Abd; Sayed, Shaimaa

doi:10.5114/pedm.2022.118316

Cited by 2 publications

(1 citation statement)

References 42 publications

(51 reference statements)

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“…The data from meta-analysis study showed that VDR BsmI gene polymorphism was associated with chronic renal failure in Chinese and Spanish individuals [ 27 ]. Many studies showed a positive association between 'b' allele of BsmI gene polymorphism and development of hyperparathyroidism in ESRD patients [ 28 , 29 , 30 , 31 , 32 ]. The data from Italian study, found a highly significant association between BsmI polymorphism and development of left ventricular hypertrophy in ESRD patients [ 33 ].…”

Section: Discussionmentioning

confidence: 99%

Vitamin D receptor (BsmI) gene polymorphism and allele frequency among chronic kidney disease patients in south Indian population

Mani

2023

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The vitamin D receptor (VDR) axis plays an important role in multiple physiological renal functions. BsmI gene is one among the VDR gene plays a vital role in maintaining this VDR axis and any polymorphism in VDR gene will cause dysfunction of renal tissues. The main objective of the study is to study the link between BsmI VDR gene polymorphism and Chronic Kidney Disease (CKD). This was a case-control study, which includes 100 cases and 100 controls. BsmI gene analysis was done by polymerase chain reaction – restriction fragment length polymorphism (PCR-RFLP). Among 100 CKD study participants, BB (wild-type) genotype of BsmI gene was present in 7 patients (7%), Bb (heterozygous) genotype was present in 23 patients (23%) and bb (mutant) genotype was present in 70 patients (70%). And among 100 controls, 92 subjects were found to have BB genotype and 8 subjects were found to have Bb genotype and none of subjects were found to have bb genotypes. CKD patients with Bb and bb genotypes were found to have significantly elevated serum urea, creatinine and decreased Glomerular Filtration Rate (GFR) when compared to the BB genotype of BsmI gene. ‘b’ allele of BsmI gene, Bb and bb genotypes of BsmI gene plays a greater role in Guanine/Adenine single nucleotide polymorphism of BsmI gene in CKD.

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Section: Discussionmentioning

confidence: 99%

Vitamin D receptor (BsmI) gene polymorphism and allele frequency among chronic kidney disease patients in south Indian population

Mani

2023

Bioinformation

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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 gene polymorphisms in chronic kidney disease Egyptian children: effect on biochemical markers of bone mineral disorders

Cited by 2 publications

References 42 publications

Vitamin D receptor (BsmI) gene polymorphism and allele frequency among chronic kidney disease patients in south Indian population

Vitamin D receptor (BsmI) gene polymorphism and allele frequency among chronic kidney disease patients in south Indian population

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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