Cargando…
Vitamin D receptor gene polymorphisms in chronic kidney disease Egyptian children: effect on biochemical markers of bone mineral disorders
AIM OF THE STUDY: The 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 eval...
Autores principales: | , , , , , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Termedia Publishing House
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10214938/ https://www.ncbi.nlm.nih.gov/pubmed/36226529 http://dx.doi.org/10.5114/pedm.2022.118316 |
_version_ | 1785047945224126464 |
---|---|
author | Elshamaa, Manal F. Eryan, Eman Fathy Hamed, Hanan M. Khalifa, Iman A.S. Kamel, Solaf Ibrahim, Mona H. Kandil, Dina Farouk, Hebatallah Raafat, Mona Haleem, Dalia A. Abd-El Mahmoud, Eman El-Saeed, Gamila S.M. Hashish, Maha M.A. Abo Elhamid, Enas M. Abd Sayed, Shaimaa |
author_facet | Elshamaa, Manal F. Eryan, Eman Fathy Hamed, Hanan M. Khalifa, Iman A.S. Kamel, Solaf Ibrahim, Mona H. Kandil, Dina Farouk, Hebatallah Raafat, Mona Haleem, Dalia A. Abd-El Mahmoud, Eman El-Saeed, Gamila S.M. Hashish, Maha M.A. Abo Elhamid, Enas M. Abd Sayed, Shaimaa |
author_sort | Elshamaa, Manal F. |
collection | PubMed |
description | AIM OF THE STUDY: The 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 METHODS: The current study included 305 patients with CKD and 100 apparently healthy children. We measured the serum vitamin D (VD), parathyroid 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. RESULTS: The 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. CONCLUSIONS: Our study showed an association between VDR TaqI, BsmI polymorphisms and the susceptibility to CKD. The existence of VDR variants affected the protein expression of VD, FGF-23 and PTH. The AGCA, AGCC and GGCA haplotypes were considered as protective factors against the development of renal nephropathy in our population. |
format | Online Article Text |
id | pubmed-10214938 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Termedia Publishing House |
record_format | MEDLINE/PubMed |
spelling | pubmed-102149382023-06-05 Vitamin D receptor gene polymorphisms in chronic kidney disease Egyptian children: effect on biochemical markers of bone mineral disorders Elshamaa, Manal F. Eryan, Eman Fathy Hamed, Hanan M. Khalifa, Iman A.S. Kamel, Solaf Ibrahim, Mona H. Kandil, Dina Farouk, Hebatallah Raafat, Mona Haleem, Dalia A. Abd-El Mahmoud, Eman El-Saeed, Gamila S.M. Hashish, Maha M.A. Abo Elhamid, Enas M. Abd Sayed, Shaimaa Pediatr Endocrinol Diabetes Metab Original paper | Praca oryginalna AIM OF THE STUDY: The 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 METHODS: The current study included 305 patients with CKD and 100 apparently healthy children. We measured the serum vitamin D (VD), parathyroid 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. RESULTS: The 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. CONCLUSIONS: Our study showed an association between VDR TaqI, BsmI polymorphisms and the susceptibility to CKD. The existence of VDR variants affected the protein expression of VD, FGF-23 and PTH. The AGCA, AGCC and GGCA haplotypes were considered as protective factors against the development of renal nephropathy in our population. Termedia Publishing House 2022-09-30 2022-09 /pmc/articles/PMC10214938/ /pubmed/36226529 http://dx.doi.org/10.5114/pedm.2022.118316 Text en Copyright © Polish Society of Pediatric Endocrinology and Diabetes https://creativecommons.org/licenses/by-nc-nd/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs (CC BY-NC-ND) (https://creativecommons.org/licenses/by-nc-nd/4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) ), allowing third parties to download and share its works but not commercially purposes or to create derivative works. |
spellingShingle | Original paper | Praca oryginalna Elshamaa, Manal F. Eryan, Eman Fathy Hamed, Hanan M. Khalifa, Iman A.S. Kamel, Solaf Ibrahim, Mona H. Kandil, Dina Farouk, Hebatallah Raafat, Mona Haleem, Dalia A. Abd-El Mahmoud, Eman El-Saeed, Gamila S.M. Hashish, Maha M.A. Abo Elhamid, Enas M. Abd Sayed, Shaimaa Vitamin D receptor gene polymorphisms in chronic kidney disease Egyptian children: effect on biochemical markers of bone mineral disorders |
title | Vitamin D receptor gene polymorphisms in chronic kidney disease Egyptian children: effect on biochemical markers of bone mineral disorders |
title_full | Vitamin D receptor gene polymorphisms in chronic kidney disease Egyptian children: effect on biochemical markers of bone mineral disorders |
title_fullStr | Vitamin D receptor gene polymorphisms in chronic kidney disease Egyptian children: effect on biochemical markers of bone mineral disorders |
title_full_unstemmed | Vitamin D receptor gene polymorphisms in chronic kidney disease Egyptian children: effect on biochemical markers of bone mineral disorders |
title_short | Vitamin D receptor gene polymorphisms in chronic kidney disease Egyptian children: effect on biochemical markers of bone mineral disorders |
title_sort | vitamin d receptor gene polymorphisms in chronic kidney disease egyptian children: effect on biochemical markers of bone mineral disorders |
topic | Original paper | Praca oryginalna |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10214938/ https://www.ncbi.nlm.nih.gov/pubmed/36226529 http://dx.doi.org/10.5114/pedm.2022.118316 |
work_keys_str_mv | AT elshamaamanalf vitamindreceptorgenepolymorphismsinchronickidneydiseaseegyptianchildreneffectonbiochemicalmarkersofbonemineraldisorders AT eryanemanfathy vitamindreceptorgenepolymorphismsinchronickidneydiseaseegyptianchildreneffectonbiochemicalmarkersofbonemineraldisorders AT hamedhananm vitamindreceptorgenepolymorphismsinchronickidneydiseaseegyptianchildreneffectonbiochemicalmarkersofbonemineraldisorders AT khalifaimanas vitamindreceptorgenepolymorphismsinchronickidneydiseaseegyptianchildreneffectonbiochemicalmarkersofbonemineraldisorders AT kamelsolaf vitamindreceptorgenepolymorphismsinchronickidneydiseaseegyptianchildreneffectonbiochemicalmarkersofbonemineraldisorders AT ibrahimmonah vitamindreceptorgenepolymorphismsinchronickidneydiseaseegyptianchildreneffectonbiochemicalmarkersofbonemineraldisorders AT kandildina vitamindreceptorgenepolymorphismsinchronickidneydiseaseegyptianchildreneffectonbiochemicalmarkersofbonemineraldisorders AT faroukhebatallah vitamindreceptorgenepolymorphismsinchronickidneydiseaseegyptianchildreneffectonbiochemicalmarkersofbonemineraldisorders AT raafatmona vitamindreceptorgenepolymorphismsinchronickidneydiseaseegyptianchildreneffectonbiochemicalmarkersofbonemineraldisorders AT haleemdaliaaabdel vitamindreceptorgenepolymorphismsinchronickidneydiseaseegyptianchildreneffectonbiochemicalmarkersofbonemineraldisorders AT mahmoudeman vitamindreceptorgenepolymorphismsinchronickidneydiseaseegyptianchildreneffectonbiochemicalmarkersofbonemineraldisorders AT elsaeedgamilasm vitamindreceptorgenepolymorphismsinchronickidneydiseaseegyptianchildreneffectonbiochemicalmarkersofbonemineraldisorders AT hashishmahamaabo vitamindreceptorgenepolymorphismsinchronickidneydiseaseegyptianchildreneffectonbiochemicalmarkersofbonemineraldisorders AT elhamidenasmabd vitamindreceptorgenepolymorphismsinchronickidneydiseaseegyptianchildreneffectonbiochemicalmarkersofbonemineraldisorders AT sayedshaimaa vitamindreceptorgenepolymorphismsinchronickidneydiseaseegyptianchildreneffectonbiochemicalmarkersofbonemineraldisorders |