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.

中文翻译：

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遗传多态性作为复发性肾结石的预后因素：系统评价和荟萃分析。

遗传多态性已被认为是影响肾结石发生和复发的危险因素，尽管关于肾结石的发现尚无定论。我们进行了系统的综述和荟萃分析，以阐明遗传多态性与复发性肾结石之间的关联。检索了2020年5月28日之前的PubMed，SCOPUS，EMBASE和Cochrane图书馆数据库，以鉴定合格的研究。预后研究质量（QUIPS）工具用于评估偏倚风险。评估了等位基因频率和不同的遗传模型。所有分析均使用Review Manager 5.4进行。总共进行了14项荟萃分析研究，评估尿激酶（ApaL1）和维生素D受体（VDR）（ApaI，BsmI，FokI和TaqI）基因多态性。ApaLI多态性在隐性模型中显示出保护性关联[几率（OR）0.45，P <0.01]，尽管杂合模型中高加索人的风险更高（OR 16.03，P <0.01）。VDR-ApaI多态性在显性模型中显示保护性关联（OR 0.60，P <0.01）。在亚洲人中，VDR-FokI多态性隐性模型表现出显着的正相关性（OR 1.70，P <0.01），VDR-TaqI多态性杂合性模型具有保护性关联（OR 0.72，P <0.01）。在任何模型中，VDR-BsmI多态性均与复发性肾结石没有显着相关性。尿激酶-ApaLI（隐性模型），VDR-ApaI（显性模型），和VDR-TaqI（杂合模型）多态性与复发性肾结石风险降低相关，而尿激酶-ApaLI（杂合模型）和VDR-FokI多态性分别与白种人和亚洲人风险增加相关。这些发现将有助于确定有肾结石复发风险的个体。