Abstract
Sarcoidosis is a systemic inflammatory disorder characterized by granuloma formation in various organs. It has been associated with nephrolithiasis. The vitamin K epoxide reductase complex subunit 1 ( ) gene, which plays a crucial role in vitamin K metabolism, has been implicated in the activation of proteins associated with calcification, including in the forming of nephrolithiasis. This study aimed to investigate the C1173T polymorphism (rs9934438) in a Dutch sarcoidosis cohort, comparing individuals with and without a history of nephrolithiasis. Retrospectively, 424 patients with sarcoidosis were divided into three groups: those with a history of nephrolithiasis (Group I: = 23), those with hypercalcemia without nephrolithiasis (Group II: = 38), and those without nephrolithiasis or hypercalcemia (Group III: = 363). Of the 424 sarcoidosis patients studied, 5.4% had a history of nephrolithiasis (Group I), only two of whom possessed no polymorphisms (OR = 7.73; 95% CI 1.79-33.4; = 0.001). The presence of a C1173T variant allele was found to be a substantial risk factor for the development of nephrolithiasis in sarcoidosis patients. This study provides novel insights into the genetic basis of nephrolithiasis in sarcoidosis patients, identifying C1173T as a potential contributor. Further research is warranted to elucidate the precise mechanisms and explore potential therapeutic interventions based on these genetic findings.
Original language | English |
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Article number | 4448 |
Number of pages | 9 |
Journal | International Journal of Molecular Sciences |
Volume | 25 |
Issue number | 8 |
DOIs | |
Publication status | Published - 18 Apr 2024 |
Keywords
- VKORC1
- hypercalcemia
- kidney stones
- nephrolithiasis
- sarcoidosis
- vitamin K
- Humans
- Female
- Vitamin K Epoxide Reductases/genetics
- Male
- Sarcoidosis/genetics complications
- Middle Aged
- Nephrolithiasis/genetics
- Risk Factors
- Adult
- Polymorphism, Single Nucleotide
- Genetic Predisposition to Disease
- Retrospective Studies
- Aged
- Alleles