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Saudi Journal of Kidney Diseases and Transplantation
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Year : 2018  |  Volume : 29  |  Issue : 3  |  Page : 743-744
Having rs1042636C677T calcium-sensing receptor polymorphism: Increased or decreased risk for nephrolithiasis?

1 KMT Primary Care Center, Bangkok, Thailand
2 Department of Tropical Medicine, Hainan Medical University, Haikou, China

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Date of Submission23-Sep-2017
Date of Acceptance26-Sep-2017
Date of Web Publication28-Jun-2018

How to cite this article:
Yasri S, Wiwanitkit V. Having rs1042636C677T calcium-sensing receptor polymorphism: Increased or decreased risk for nephrolithiasis?. Saudi J Kidney Dis Transpl 2018;29:743-4

How to cite this URL:
Yasri S, Wiwanitkit V. Having rs1042636C677T calcium-sensing receptor polymorphism: Increased or decreased risk for nephrolithiasis?. Saudi J Kidney Dis Transpl [serial online] 2018 [cited 2022 Jan 16];29:743-4. Available from: https://www.sjkdt.org/text.asp?2018/29/3/743/235188
To the Editor,

Calcium (Ca) stone is a common problem related to abnormal calcium biometabolism. The calcium stone is known to be associated with the nephrolithiasis-related end-stage renal disease. The underlying genetic predisposing factor for having abnormal calcium metabolism that might result in calcium stone formation risk is very interesting. Of several genes, calcium-sensing receptor (CASR) polymorphism is widely studied. In fact, CASR is important receptor for regulation blood ionized calcium and significant relationship to urinary calcium excretion. The first primary control of CARS is at genetic level by specific CASR gene. The polymorphisms of CASR gene are already detectable. The rs1042636C677T polymorphism is an interesting polymorphism of CASR that has a controversial effect regarding the risk of calcium stone formation. Some reports mentioned that rs1042636C677T polymorphism results in increased risk whereas the others mention for opposite observation.[1],[2],[3],[4] Here, the authors analyzed the molecular change in rs1042636C677T polymorphism to assess the possible effect on the risk of calcium stone formation.

Here, the authors used standard quantum calculation technique for assessment as reported in previous publications.[5],[6],[7] It can be seen that the rs1042636C677T when translated to protein will have has a lower protein molecular weight than naïve type (decreased mass = 99). Per one molecular, comparing to one molecule of naïve type, the decreased molecular weight in the polymorphism implies a less mass of final bioreaction product. Lower blood ionized calcium and higher urinary calcium can be expected. Indeed, this finding in this theoretical approach is concordant with a previous observation that rs1042636C677T could increase the risk of calcium stone formation.[3]

Conflict of interest: None declared.

   References Top

Kapur K, Johnson T, Beckmann ND, et al. Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene. PLoS Genet 2010;6:e1001035.  Back to cited text no. 1
Scillitani A, Guarnieri V, De Geronimo S, et al. Blood ionized calcium is associated with clustered polymorphisms in the carboxyl- terminal tail of the calcium-sensing receptor. J Clin Endocrinol Metab 2004;89:5634-8.  Back to cited text no. 2
Vezzoli G, Tanini A, Ferrucci L, et al. Influence of calcium-sensing receptor gene on urinary calcium excretion in stone-forming patients. J Am Soc Nephrol 2002;13:2517-23.  Back to cited text no. 3
Scillitani A, Guarnieri V, Battista C, et al. Primary hyperparathyroidism and the presence of kidney stones are associated with different haplotypes of the calcium-sensing receptor. J Clin Endocrinol Metab 2007;92:277-83.  Back to cited text no. 4
Joob B, Wiwanitkit V. HSD11B1 rs846908 polymorphisms and tacrolimus concentrations: Quantum chemical analysis and implication in patients with renal transplantation. J Nephropharmacol 2017;6:19-20.  Back to cited text no. 5
Joob B, Wiwanitkit V. ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1) polymorphism and clopidogrel concentration in acute coronary syndrome: Molecular change can explain the observed therapeutic concentration. Anatol J Cardiol 2016;16:303-4.  Back to cited text no. 6
Wiwanitkit S, Wiwanitkit V. Change in molecular weight due to important pfatp6 and pfmdr1 polymorphisms and susceptibility to antimalarial drug: Possible role of epigenetic phenomenon. Asian Pac J Trop Biomed 2017; 7:181-2.  Back to cited text no. 7

Correspondence Address:
Dr. Sora Yasri
KMT Primary Care Center, Bangkok
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DOI: 10.4103/1319-2442.235188

PMID: 29970760

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