ArticlePediatric endocrinology, diabetes, and metabolism2022
Vitamin D receptor gene polymorphisms in chronic kidney disease Egyptian children: effect on biochemical markers of bone mineral disorders.
Article in Pediatric endocrinology, diabetes, and metabolism, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 5 citations in OpenAlex.
- Review
- Vitamin D receptor (BsmI) gene polymorphism and allele frequency among chronic kidney disease patients in south Indian population.Bioinformation · 2023Article
- ACTUALITIES IN THE MANAGEMENT OF SECONDARY HYPERPARATHYROIDISM DUE TO CHRONIC KIDNEY DISEASE IN CHILDREN.Acta endocrinologica (Bucharest, Romania : 2005)Article
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15 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
introductionThe aim of this study was to assess the association between four vitamin D receptor (VDR) single nucleotide polymorphisms BsmI (rs1544410), ApaI (rs7975232), FokI (rs2228570) and TaqI (rs731236) and the susceptibility to chronic kidney disease (CKD) in Egyptian children and to evaluate their association with mineral status in these patients. MATERIAL AND
methodsThe current study included 305 patients with CKD and 100 apparently healthy children. We measured the serum vitamin D (VD), para-thyroid hormone (PTH) level and fibroblast growth factor 23 (FGF-23) levels by ELISA method. The genotyping of the four VDR gene variants was carried out by PCR-RFLP technique.
resultsThe TaqI AG & the BsmI TT genotypes were associated with a significantly higher risk of CKD. The expression of 25-OH D serum level was decreased in patients with TaqI GG & AG genotypes groups and in patients with BsmI TT genotype group The expression of PTH serum level was increased in patients with BsmI CT genotype group. The expression of FGF-23 serum level was increased in patients with Taq1 AG genotype group. We found 3 specific haplotypes; AGCA, AGCC and GGCA for healthy controls.
conclusionsOur study showed an association between VDR TaqI, BsmI polymorphisms and the susceptibility to CKD. The existence of VDR vari-ants affected the protein expression of VD, FGF-23 and PTH. The AGCA, AGCC and GGCA haplotypes were considered as protec-tive factors against the development of renal nephropathy in our population.
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