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Abstract：
Hyperuricemia and gout are risk factors of nephrolithiasis. However, it is unclear whether the ABCG2 gene contributes to the development of nephrolithiasis. We aimed to investigate the interaction between the ABCG2 rs2231142 variant and incident nephrolithiasis in the Taiwanese population.
A total of 120,267 adults aged 30-70 years were enrolled from the Taiwan Biobank data-base in this retrospective case-control study and genotyped for rs2231142. The primary outcome was the prevalence of self-reported nephrolithiasis. The odds ratio (OR) of incident nephrolithiasis was analyzed by multivariable logistic regression models with adjustment for multifactorial confounding factors. Associations of the ABCG2 rs2231142 variant with serum uric acid levels, and the incident nephrolithiasis were explored.
The frequency of rs2231142 T allele was 53%, and 8,410 participants had nephrolithiasis. The multivariable-adjusted OR (95% confidence interval) of nephrolithiasis was 1.18 (1.09-1.28) and 1.12 (1.06-1.18) for TT and GT genotypes, respectively, compared with the GG genotype (p<0.001), specifically in the male population with hyperuricemia. Higher age, male sex, hyperlipidemia, hypertension, diabetes mellitus, hyperuricemia, smoking and overweight were independent risk factors for nephrolithiasis. In contrast, regular physical exercise is a protective factor against nephrolithiasis.
ABCG2 genetic variation is a significant risk of nephrolithiasis, independent of serum uric acid levels. For rs2231142 T allele carriers, our result provides evidence for precision healthcare to tackle hyperuricemia, comorbidities, smoking, and overweight, and recommend regular physical exercise for the prevention of nephrolithiasis.
A total of 120,267 adults aged 30-70 years were enrolled from the Taiwan Biobank data-base in this retrospective case-control study and genotyped for rs2231142. The primary outcome was the prevalence of self-reported nephrolithiasis. The odds ratio (OR) of incident nephrolithiasis was analyzed by multivariable logistic regression models with adjustment for multifactorial confounding factors. Associations of the ABCG2 rs2231142 variant with serum uric acid levels, and the incident nephrolithiasis were explored.
The frequency of rs2231142 T allele was 53%, and 8,410 participants had nephrolithiasis. The multivariable-adjusted OR (95% confidence interval) of nephrolithiasis was 1.18 (1.09-1.28) and 1.12 (1.06-1.18) for TT and GT genotypes, respectively, compared with the GG genotype (p<0.001), specifically in the male population with hyperuricemia. Higher age, male sex, hyperlipidemia, hypertension, diabetes mellitus, hyperuricemia, smoking and overweight were independent risk factors for nephrolithiasis. In contrast, regular physical exercise is a protective factor against nephrolithiasis.
ABCG2 genetic variation is a significant risk of nephrolithiasis, independent of serum uric acid levels. For rs2231142 T allele carriers, our result provides evidence for precision healthcare to tackle hyperuricemia, comorbidities, smoking, and overweight, and recommend regular physical exercise for the prevention of nephrolithiasis.
摘要：
■高尿酸血症和痛风是肾结石的危险因素。然而,目前尚不清楚ABCG2基因是否有助于肾结石的发展。我们旨在调查台湾人群中ABCG2rs2231142变体与偶发肾结石之间的相互作用。
■在这项回顾性病例对照研究中，从台湾生物库数据库中招募了120,267名30-70岁的成年人，并对rs2231142进行了基因分型。主要结果是自我报告的肾结石的患病率。通过多变量逻辑回归模型分析了肾结石的比值比（OR），并调整了多因素混杂因素。ABCG2rs2231142变体与血清尿酸水平的关联，并探讨了肾结石的事件。
■rs2231142T等位基因频率为53%,8,410名参与者患有肾结石。TT和GT基因型肾结石的多变量校正OR（95％置信区间）为1.18（1.09-1.28）和1.12（1.06-1.18），分别,与GG基因型相比（p<0.001），特别是在高尿酸血症的男性人群中。年龄较高,男性,高脂血症,高血压,糖尿病,高尿酸血症,吸烟和超重是肾结石的独立危险因素。相比之下,定期体育锻炼是预防肾结石的保护因素。
■ABCG2遗传变异是肾结石的重要风险，与血清尿酸水平无关。对于rs2231142T等位基因携带者，我们的结果为精准医疗解决高尿酸血症提供了证据，合并症,吸烟,超重，并建议定期进行体育锻炼以预防肾结石。
■在这项回顾性病例对照研究中，从台湾生物库数据库中招募了120,267名30-70岁的成年人，并对rs2231142进行了基因分型。主要结果是自我报告的肾结石的患病率。通过多变量逻辑回归模型分析了肾结石的比值比（OR），并调整了多因素混杂因素。ABCG2rs2231142变体与血清尿酸水平的关联，并探讨了肾结石的事件。
■rs2231142T等位基因频率为53%,8,410名参与者患有肾结石。TT和GT基因型肾结石的多变量校正OR（95％置信区间）为1.18（1.09-1.28）和1.12（1.06-1.18），分别,与GG基因型相比（p<0.001），特别是在高尿酸血症的男性人群中。年龄较高,男性,高脂血症,高血压,糖尿病,高尿酸血症,吸烟和超重是肾结石的独立危险因素。相比之下,定期体育锻炼是预防肾结石的保护因素。
■ABCG2遗传变异是肾结石的重要风险，与血清尿酸水平无关。对于rs2231142T等位基因携带者，我们的结果为精准医疗解决高尿酸血症提供了证据，合并症,吸烟,超重，并建议定期进行体育锻炼以预防肾结石。
