PDF(Pubmed)
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 (VKORC1) 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 VKORC1 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: n = 23), those with hypercalcemia without nephrolithiasis (Group II: n = 38), and those without nephrolithiasis or hypercalcemia (Group III: n = 363). Of the 424 sarcoidosis patients studied, 5.4% had a history of nephrolithiasis (Group I), only two of whom possessed no VKORC1 polymorphisms (OR = 7.73; 95% CI 1.79-33.4; p = 0.001). The presence of a VKORC1 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 VKORC1 C1173T as a potential contributor. Further research is warranted to elucidate the precise mechanisms and explore potential therapeutic interventions based on these genetic findings.
摘要：
结节病是一种全身性炎症性疾病，其特征是在各种器官中形成肉芽肿。它与肾结石有关。维生素K环氧化物还原酶复合物亚基1（VKORC1）基因，在维生素K代谢中起着至关重要的作用，与钙化相关的蛋白质的激活有关，包括肾结石的形成。本研究旨在调查荷兰结节病队列中的VKORC1C1173T多态性（rs9934438）。比较有和没有肾结石病史的个体。回顾过去,424例结节病患者分为三组：有肾结石病史的患者（I组：n=23），那些没有肾结石的高钙血症（第二组：n=38），和那些没有肾结石或高钙血症（组III：n=363）。在研究的424例结节病患者中，5.4%有肾结石病史(第一组)，其中只有2人没有VKORC1多态性(OR=7.73;95%CI1.79-33.4;p=0.001)。发现VKORC1C1173T变异等位基因的存在是结节病患者发生肾结石的重要危险因素。这项研究为结节病患者肾结石的遗传基础提供了新的见解，确定VKORC1C1173T为潜在贡献者。需要进一步的研究来阐明精确的机制，并根据这些遗传发现探索潜在的治疗干预措施。
