SINGLE-NUCLEOTIDE POLYMORPHISMS OF CALCIUM-SENSING RECEPTOR ENCODING GENE ASSOCIATED WITH CALCIUM KIDNEY STONE DISEASE IN BABYLON PROVINCE

Authors

  • Zahraa Isam Department of Biology, College of Science, University of Babylon, Al-Hillah City, Babel, Iraq.
  • Rabab Omran Department of Biotechnology, Genetic Engineering, College of Science, University of Babylon, Al-Hillah City, Babel, Iraq. http://orcid.org/0000-0001-9449-3421
  • Ammad Hassan Mahmood Department of Urology, College of Medicine, University of Babylon, Consultant urologist in Al-Hillah Teaching Hospital, Al-Hillah City, Babel, Iraq.

DOI:

https://doi.org/10.22159/ajpcr.2018.v11i2.22064

Keywords:

Chronic and end-stage renal disease, Polymerase chain reaction, rs1801725, Calcium-sensing receptor, Single-nucleotide polymorphisms

Abstract

 

 Objective: The calcium-sensing receptor (CASR) is a G-protein-coupled receptor that is mainly expressed in the parathyroid and the kidneys where it regulates parathyroid hormone secretion and renal tubular calcium reabsorption. Inactivating and activating CASR gene due to mutations severally caused hypercalcemia or hypocalcemia disorders. The aim of the study was to investigate the risk factor of CASR rs1801725 (Ala986Ser) patients with renal disease.

Method: The blood samples were collected from 100 patients and divided into two groups, each one containing 50 samples; chronic kidney disease and end-stage renal disease, who admitted Merjan Teaching Hospital in Babylon Province, Iraq, from February to July 2016. In addition, healthy persons as a control group (50 samples). Genotyping of CASR single-nucleotide polymorphisms (SNP) was performed using a polymerase chain reaction technique, followed by single-strand conformation polymorphism. Accordingly, these DNA polymorphisms were confirmed using DNA sequencing.

Results: The conformational haplotypes of CASR, exon7 NCBI Primer3plus reference were obtained in three patterns, including two, three, and four bands, due to the presence SNPs within the studied region. These SNPs leads to change three amino acid residues of CASR, including amino acid substitutions were Ala 128→ Ser 128, Leu 155→Tye 155, and Leu 156→ Ser 156 that may affect or modified the tertiary structure of the receptor, subsequently the function like the affinity to calcium ion may be effected.

Conclusion: These results suggest that the variants of CASR SNP, namely, rs1801725 might be involved in susceptibility to kidney stone disease.

Author Biographies

Zahraa Isam, Department of Biology, College of Science, University of Babylon, Al-Hillah City, Babel, Iraq.

Ph.D. student in Biology Deparetment

Rabab Omran, Department of Biotechnology, Genetic Engineering, College of Science, University of Babylon, Al-Hillah City, Babel, Iraq.

Professor of Biotechnology- Genetic Engineering in Department of Biology, College of Science, University of Babylon, Al-Hillah City, Babel, Iraq.biology

Ammad Hassan Mahmood, Department of Urology, College of Medicine, University of Babylon, Consultant urologist in Al-Hillah Teaching Hospital, Al-Hillah City, Babel, Iraq.

Professor of Urology,  College of Medicine, University of Babylon, Consultant urologist in Hilla Teaching  Hospital, Al-Hillah City, Babel, Iraq.

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Published

2018-02-01

How to Cite

Isam, Z., R. Omran, and A. H. Mahmood. “SINGLE-NUCLEOTIDE POLYMORPHISMS OF CALCIUM-SENSING RECEPTOR ENCODING GENE ASSOCIATED WITH CALCIUM KIDNEY STONE DISEASE IN BABYLON PROVINCE”. Asian Journal of Pharmaceutical and Clinical Research, vol. 11, no. 2, Feb. 2018, pp. 417-21, doi:10.22159/ajpcr.2018.v11i2.22064.

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