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.

Highlights

  • A global increase in the incidence and prevalence of kidney stones has been documented in almost all populations, with the prevalence rates varying from 1 to 20% [1]

  • 14 studies were selected for meta-analysis, which evaluated polymorphisms in the urokinase and vitamin D receptor (VDR) genes

  • The urokinase-ApaLI gene polymorphism was associated with increased risk of recurrent kidney stones among the Caucasian population

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Summary

Introduction

A global increase in the incidence and prevalence of kidney stones has been documented in almost all populations, with the prevalence rates varying from 1 to 20% [1]. The lifetime risk of kidney stones is 8.8% with approximate recurrence rates of 14 and 35% after one and five years, respectively [2, 3]. A “stone forming belt” has been recognized in Asia extending from West Asia to Southeast and South Asia with prevalence rates between 5 and 19.1% [4] and lifetime recurrence risks estimated at 60–80% among Asian countries [4]. The financial burdens of recurrent stone disease are substantial, with. Preventing recurrences among at-risk stone formers may constitute a costeffective approach to manage this disease

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