Department of Urology, Faculty of Medicine, Universitas Indonesia, Cipto Mangunkusumo Hospital, Jakarta, Indonesia.
PLoS One. 2021 May 6;16(5):e0251235. doi: 10.1371/journal.pone.0251235. eCollection 2021.
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.
遗传多态性被认为是影响肾结石发生和复发的危险因素,尽管后者的研究结果仍不确定。我们进行了这项系统综述和荟萃分析,以阐明遗传多态性与复发性肾结石之间的关系。通过检索 PubMed、SCOPUS、EMBASE 和 Cochrane Library 数据库,截至 2020 年 5 月 28 日,我们确定了合格的研究。使用预后研究质量工具(QUIPS)评估偏倚风险。评估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。共有 14 项研究纳入荟萃分析,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作用[比值比(OR)0.45,P<0.01],但在杂合模型中,白种人风险更高(OR 16.03,P<0.01)。VDR-ApaI 多态性在显性模型中显示出保护作用(OR 0.60,P<0.01)。在亚洲人中,VDR-FokI 多态性隐性模型显示出显著的阳性关联(OR 1.70,P<0.01),而 VDR-TaqI 多态性杂合模型显示出保护作用(OR 0.72,P<0.01)。VDR-BsmI 多态性在任何模型中与复发性肾结石均无显著相关性。尿激酶-ApaLI(隐性模型)、VDR-ApaI(显性模型)和 VDR-TaqI(杂合模型)多态性与降低复发性肾结石风险相关,而尿激酶-ApaLI(杂合模型)和 VDR-FokI 多态性与白种人和亚洲人复发性肾结石风险增加相关。这些发现将有助于识别肾结石复发的高危人群。