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eISSN: 2083-8441
ISSN: 2081-237X
Pediatric Endocrinology Diabetes and Metabolism
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SCImago Journal & Country Rank
 
3/2022
vol. 28
 
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Artykuł oryginalny

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

Manal F. Elshamaa
1
,
Eman Fathy Eryan
2
,
Hanan M. Hamed
2
,
Iman A.S. Khalifa
2
,
Solaf Kamel
3
,
Mona H. Ibrahim
3
,
Dina Kandil
3
,
Hebatallah Farouk
3
,
Mona Raafat
3
,
Dalia A. Abd-El Haleem
3
,
Eman Mahmoud
3
,
Gamila S.M. El-Saeed
4
,
Maha M.A. Abo Hashish
1
,
Enas M. Abd Elhamid
1
,
Shaimaa Sayed
2

1.
Pediatrics Department, National Research Centre, Cairo, Egypt
2.
Pediatrics Department, Cairo University, Cairo, Egypt
3.
Clinical Pathology Department, National Research Centre, Cairo, Egypt
4.
Department of Medical Biochemistry, National Research Centre, Cairo, Egypt
Pediatr Endocrinol Diabetes Metab 2022; 28 (3): 188–196
Data publikacji online: 2022/09/30
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Introduction
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), 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.

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 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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