Genetic polymorphisms as prognostic factors for recurrent kidney stones: A systematic review and meta-analysis

Abstract

Genetic polymorphisms have been suggested as risk factors affecting the occurrence and recurrence of kidney stones, although findings regarding the latter remain inconclusive. We performed this systematic review and meta-analysis to clarify the associations between genetic polymorphisms and recurrent kidney stones. PubMed, SCOPUS, EMBASE, and Cochrane Library databases were searched through May 28th, 2020 to identify eligible studies. The Quality in prognostic studies (QUIPS) tool was used to evaluate bias risk. Allelic frequencies and different inheritance models were assessed. All analyses were performed using Review manager 5.4. A total of 14 studies were included for meta-analysis, assessing urokinase (ApaL1) and vitamin D receptor (VDR) (ApaI, BsmI, FokI, and TaqI) gene polymorphisms. The ApaLI polymorphism demonstrated protective association in the recessive model [odds ratio (OR) 0.45, P < 0.01] albeit higher risk among Caucasians in the heterozygous model (OR 16.03, P < 0.01). The VDR-ApaI polymorphism showed protective association in the dominant model (OR 0.60, P < 0.01). Among Asians, the VDR-FokI polymorphism recessive model showed significant positive association (OR 1.70, P < 0.01) and the VDR-TaqI polymorphism heterozygous model exhibited protective association (OR 0.72, P < 0.01). The VDR-BsmI polymorphism was not significantly associated with recurrent kidney stones in any model. Urokinase-ApaLI (recessive model), VDR-ApaI (dominant model), and VDR-TaqI (heterozygous model) polymorphisms were associated with decreased recurrent kidney stone risk whereas urokinase-ApaLI (heterozygous model) and VDR-FokI polymorphisms were associated with increased risk among Caucasians and Asians, respectively. These findings will assist in identifying individuals at risk of kidney stone recurrence.

Is a Vitamin K Epoxide Reductase Complex Subunit 1 (VKORC1) Polymorphism a Risk Factor for Nephrolithiasis in Sarcoidosis?

“…Understanding the relevant genetic factors may pave the way towards personalized approaches to assessing the risk of nephrolithiasis in individuals with sarcoidosis, and probably also in individuals with other diseases, allowing for targeted preventive strategies and more-effective management of renal complications [17,29]. Renal calculi appear to be a marker of chronicity, with long-term corticosteroid therapy required in most cases [5].…”

“…In view of the role of vitamin K2 in local γ-carboxylation, it would be interesting to understand the vitamin K2 statuses of stone formers [15]. Genetic polymorphisms have been proposed to be risk factors affecting the occurrence and recurrence of kidney stones [17]. Previously, it was shown that the expression of the VKORC1 protein is decreased in renal tissues of patients with CaOx urolithiasis, indicating that VKORC1 may play an important role in the formation of CaOx stones [18].…”

The role of genetic factors in the development of recurrent urolithiasis

“…В частности, однонуклеотидные полиморфизмы (англ. -Single Nucleotide Polymorphism, SNP) в различных генах могут оказывать влияние на риск развития и рецидива данного заболевания [7]. Раннее установление наследственной предрасположенности к манифестации и рецидиву данного заболевания может оказаться важнейшим звеном в профилактике мочекаменной болезни [8].…”