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Published on: June 2, 2022
Calcium-sensing receptor gene polymorphisms and cardiac valvular calcification in patients with chronic renal
Funda Turkmen1, Ali Ozdemir, Can Sevinc
1Department of Internal Medicine, Haydarpasa Numune Education and Research Hospital, Istanbul, Turkey.
Insights
Genetic factors may influence cardiac valvular calcification (VC) in hemodialysis patients. This study explored calcium-sensing receptor (CaSR) gene variations, finding a borderline association between the A/G genotype and VC, suggesting larger studies are needed.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Nephrology
Background:
- Cardiac valvular calcification (VC) is common in patients undergoing chronic hemodialysis.
- Genetic susceptibility may contribute to VC development and variability.
- The calcium-sensing receptor (CaSR) gene is a potential candidate for influencing VC.
Purpose of the Study:
- To investigate the association between calcium-sensing receptor (CaSR) gene polymorphisms and the development of cardiac valvular calcification (VC) in chronic hemodialysis patients.
Main Methods:
- Transthoracic echocardiography was used to assess VC in 41 chronic hemodialysis patients.
- Polymerase Chain Reaction (PCR) with allele-specific primers was employed to analyze CaSR gene polymorphisms (A990G, C1011G).
- DNA sequencing verified PCR results in a subset of patients.
Main Results:
- Cardiac valvular calcification (VC) was detected in 51.2% of the patients.
- A slightly higher frequency of the CaSR A/G genotype was observed in patients with VC (42.9%) compared to those without (15%), with a borderline P value (P=0.050).
- The C/C genotype frequency was similar between patients with and without VC (90.5% vs. 85%, P>0.05).
Conclusions:
- The current study's findings are insufficient to definitively establish a role for CaSR gene polymorphisms in the development of cardiac valvular calcification (VC).
- Larger-scale studies are warranted to further explore the genetic underpinnings of VC in hemodialysis patients.
Abstract:
Cardiac valvular calcification (VC) is a frequent finding in chronic hemodialysis patients. In addition to demographic and metabolic factors, genetic susceptibility may also influence the occurrence and severity of these abnormalities and account for interindividual variability among patients. In this report, we studied the relation of calcium-sensing receptor (CaSR) gene polymorphisms to the development of VC in chronic hemodialysis patients. A total of 41 chronic hemodialysis patients (26 male, mean age 47.23 +/- 11.36 years vs. 15 females, mean age 48.13 +/- 14.66 years) undergoing treatment for more than 1 year were evaluated with transthoracic echocardiography. In patients with and without VC, CaSR gene polymorphisms (A990G, C1011G) were investigated by PCR, using allele-specific primers. In randomly chosen subjects, PCR analysis was verified by DNA sequencing. Cardiac valve calcification was detected in 21 patients (51.2%). Five of these patients (12.2%) had mitral valve calcification, 4 (9.75%) had aortic valve calcification, and 12 (29.27%) had both. In patients with VC, the frequency of the A/G genotype was slightly higher than those with no VC with a borderline P value (42.9% vs. 15%, chi(2)=3.840, P=0.050). The frequency of the C/C genotype was similar in patients with and without VC (90.5% vs. 85%, P>0.05). The results of this study are not enough to prove the role of CaSR gene polymorphisms in the development of VC. There is a need for large-scale studies on this topic.
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