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Abstract

In an effort to identify the polymorphism's ultimate function in calcium stone development, an evaluation of the link between calcium stone disease and CaSR polymorphism in the population of Babylon Province, Iraq, was performed. 60 patients were hospitalized at Hillah Hospital in the province of Babylon. Blood samples were collected between January and December 2020. Sixty patients diagnosed with renal stones and forty healthy controls were included in the study. CaSR single-nucleotide polymorphisms (SNPs) were genotyped using the single-strand conformation polymorphism technique after a polymerase chain reaction. In order to confirm these DNA polymorphisms, DNA sequencing was employed. The findings indicate that the serum levels of calcium and phosphate in patients and controls did not differ significantly (P≤ 0.05). The haplotype of the CaSR gene, exon 7, was obtained in three patterns, namely 2-bands, 3-bands, and 5-bands, between the female patient group and the female control group. Additionally, there were significant differences (P≤ 0.05) in creatinine concentrations between the male patient group and the male control group. There were three SNPs in exon 7 producing two amino acid substitutions in CaSR, including Ser 315 to Asn 315 in sample 4 and Ser 315 10 Thr 315 in sample 23. The tertiary structure of the receptor may be altered or modified, which may have an impact on the receptor's function, including its affinity for calcium ions. The results of this study point out that a single nucleotide polymorphism in exon 7 of the CaSR gene plays a crucial role in stone formation in kidney disease.

Keywords

Calcium-sensing receptor, CaSR gene, Renal calcium-containing stones, Renal stones, Single nucleotide polymorphism

Subject Area

Biology

Article Type

Article

First Page

2392

Last Page

2402

Creative Commons License

Creative Commons Attribution 4.0 International License
This work is licensed under a Creative Commons Attribution 4.0 International License.

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