Evaluation of CaSR rs1801725 and circulating miRNA-21-5p and miRNA-124-3p expression in chronic kidney disease-mineral and bone disorder patients

Theodor Bilharz Research Institute

Bibliographic Information

Authors: Osman E.A.; El-shishtawy S.H.; Khanany F.M.

Journal: Egyptian Journal of Medical Human Genetics

Publisher: Springer Nature

Publication Date: 17 January 2026

Volume / Issue: Volume 27 / Issue 1

Article No.: 6

ISSN: 11108630

DOI: 10.1186/s43042-026-00838-4

Scopus: View on Scopus

Document Type: Article

Access: All Open Access; Gold Open Access; Green Open Access

Authors and Affiliations

Osman E.A., Clinical Chemistry Department, Theodor Bilharz Research Institute, Giza, Egypt; El-shishtawy S.H., Nephrology Department, Theodor Bilharz Research Institute, Cairo, Egypt; Khanany F.M., Clinical Chemistry Department, Theodor Bilharz Research Institute, Giza, Egypt

Abstract

Background: Chronic kidney disease-mineral and bone disorder (CKD-MBD) has been a prominent consequence of end-stage renal disease (ESRD), increasing cardiovascular risk and skeletal fragility. Emerging research shows that genetic and epigenetic variables play an important role in determining the development and progression of CKD-MBD. This study aimed to evaluate the potential role of calcium-sensing receptor (CaSR) rs1801725 polymorphism and the circulating microRNAs (miRNA-21-5p, miRNA-124-3p) as diagnostic biomarkers for CKD-MBD. This case-control study involved 100 Egyptian participants: 50 hemodialysis patients with CKD-MBD and 50 age- and sex-matched healthy controls. The CaSR rs1801725 polymorphism was genotyped using TaqMan® allelic discrimination assays. Through the use of real-time quantitative reverse transcription PCR (qRT-PCR), the expression levels of serum miRNA-21-5p and miRNA-124-3p were measured. Results: The GT and TT genotypes of CaSR rs1801725 were more frequent in CKD-MBD patients but didn’t reach statistical significance. The TT genotype was linked to higher parathyroid hormone (PTH) and bone specific alkaline phosphatase (b-ALP) levels and lower calcium. Both miRNA-21-5p and miRNA-124-3p were notably downregulated in CKD-MBD, with miRNA-21-5p inversely correlating with PTH. Receiver operating characteristic (ROC) analysis suggests both miRNAs, especially miRNA-21-5p, could serve as diagnostic biomarkers. Conclusions: This study highlights the potential of serum miRNA-21-5p and miRNA-124-3p expression levels, as promising biomarkers for CKD-MBD but CaSR rs1801725 polymorphism not reach statistical significance as an independent diagnostic marker. © The Author(s) 2026.

Keywords

CaSR rs1801725 polymorphism; CKD-MBD; miRNA-124-3p; miRNA-21-5p; alkaline phosphatase; biological marker; calcium sensing receptor; microRNA 124; microRNA 21; mirna 124 3p; mirna 21 5p; parathyroid hormone; unclassified drug; adult; age; Article; case control study; chronic kidney disease-mineral and bone disorder; chronic kidney failure; comparative study; controlled study; correlation analysis; Egyptian; evaluation study; female; genetic polymorphism; genotype; hemodialysis patient; human; major clinical study; male; mRNA expression level; real time polymerase chain reaction; real time reverse transcription polymerase chain reaction; receiver operating characteristic; renal osteodystrophy; rs801725; serum; sex; single nucleotide polymorphism; statistical significance

Citation Information

Scopus Citations: 0

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