Variant of CALCR gene (rs2301680) associated with the risk of calcium urolithiasis: A preliminary study
Background: Urolithiasis is a global health burden. It is a complex disease resulting from the complex interactions of epidemiological, genetic, and environmental factors. Objective: Earlier studies showed a majority of the renal stone patients in West Bengal were diagnosed with calcium-containing s...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2022-01-01
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| Series: | Annals of Medical Science and Research |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/amsr.amsr_2_22 |
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| Summary: | Background:
Urolithiasis is a global health burden. It is a complex disease resulting from the complex interactions of epidemiological, genetic, and environmental factors.
Objective:
Earlier studies showed a majority of the renal stone patients in West Bengal were diagnosed with calcium-containing stone. Here, in this study, we aimed to find out the association between single-nucleotide polymorphism (rs2301680) of CALCR gene with urolithiasis risk.
Methodology:
A case‒control study was performed with 20 renal stone patients admitted to the Department of Urology, Institute of Post Graduate Medical Education and Research, Kolkata. The equal number of age-, sex-, and ethnicity-matched healthy individuals were also enrolled. Clinical parameters were recorded through a questionnaire. Peripheral blood was drawn from every individual in ethylenediaminetetraacetic acid (anticoagulant) containing vials. DNA was extracted from the blood using a QIAamp Blood Kit (QIAGEN, Hilden, Germany) as per the manufacturer's instruction. Amplification of the desired region of CALCR gene was performed using polymerase chain reaction (PCR) using specific primers. The PCR products were sequenced bidirectionally using the BigDye Terminator kit v3.1 (Applied Biosystems, Foster City, USA) in ABI Prism 377 DNA Sequencer (Model 3700; Applied Biosystems, Foster City, USA).
Results and Conclusion:
Clinical results showed a higher level of urinary calcium in patients than controls. The allelic and genotypic frequency analyses revealed a probable association of rs2301680 of CALCR with the risk of urolithiasis in our study population. However, our sample size is very small and further studies with larger samples are required to conclude the association of this SNP with urolithiasis. |
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| ISSN: | 2949-785X |