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Is a Vitamin K Epoxide Reductase Complex Subunit 1 (VKORC1) Polymorphism a Risk Factor for Nephrolithiasis in
Marjolein Drent1,2,3, Petal Wijnen1,3,4, Otto Bekers2,4
1ILD Center of Excellence, Department of Respiratory Medicine, St. Antonius Hospital, 3435 CM Nieuwegein, The Netherlands.
International Journal of Molecular Sciences
|April 27, 2024
Summary
The vitamin K epoxide reductase complex subunit 1 (VKORC1) C1173T variant is a significant risk factor for developing kidney stones (nephrolithiasis) in sarcoidosis patients. This genetic finding offers new insights into sarcoidosis complications.
Area of Science:
- Genetics
- Nephrology
- Immunology
Background:
- Sarcoidosis is a systemic inflammatory disease characterized by granulomas.
- Nephrolithiasis (kidney stones) is a known complication of sarcoidosis.
- The VKORC1 gene influences vitamin K metabolism and calcification processes.
Purpose of the Study:
- To investigate the association between the VKORC1 C1173T polymorphism (rs9934438) and nephrolithiasis in Dutch sarcoidosis patients.
- To identify genetic risk factors for kidney stone formation in sarcoidosis.
Main Methods:
- Retrospective study of 424 sarcoidosis patients.
- Patients categorized into groups based on nephrolithiasis and hypercalcemia history.
- VKORC1 C1173T polymorphism genotyped.
Main Results:
- 5.4% of sarcoidosis patients had a history of nephrolithiasis.
- Presence of the VKORC1 C1173T variant allele was a substantial risk factor for nephrolithiasis (OR = 7.73, p = 0.001).
- Only two patients with nephrolithiasis lacked VKORC1 polymorphisms.
Conclusions:
- The VKORC1 C1173T polymorphism is a significant genetic risk factor for nephrolithiasis in sarcoidosis.
- This finding sheds light on the genetic underpinnings of kidney stone development in sarcoidosis.
- Further research is needed to understand mechanisms and explore therapeutic targets.
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