Department of Urology, Huashan Hospital, Fudan University, Shanghai 200040, PR China.
Institute of Urology, Fudan University, Shanghai 200040, PR China.
Sci Rep. 2017 Mar 31;7:45766. doi: 10.1038/srep45766.
In this study, we aimed to validate the association of 8 reported significant loci at 5q35.3, 7p14.3, 13q14.1 and 16p12.3 with urolithiasis in Chinese Han population. We performed case-control association analysis using 624 patients with nephrolithiasis and 1008 control subjects. We selected single-nucleotide polymorphism (SNPs) including rs12654812 and rs11746443 from 5q32.3; rs12669187 and rs1000597 from 7q14.3; rs7981733, rs4142110 and rs17646069 from 13q14.1 and rs4293393 from 16p12.3 which were previously reported to be associated with nephrolithiasis. We found none of these eight reported SNPs were significant associated with urolithiasis risk in Chinese Han population, which suggested that differences could exist in the mechanisms of calcium urolithiasis between Chinese and Japanese Ethnics. The A allele of rs12669187 was significantly correlated with increased level of serum magnesium. The C allele of rs1000597 was associated with higher levels of serum creatinine, uric acid, calcium and lower urine pH level. The T allele of rs4142110 was correlated with higher levels of serum magnesium, phosphorus, and lower AKP level. The G alleles of rs4293393 was associated with higher serum CO level. The risk alleles of these SNPs were proved to be associated with the electrolytes metabolism that may result in the formation of urolithiasis.
在这项研究中，我们旨在验证在中国汉族人群中，5q35.3、7p14.3、13q14.1 和 16p12.3 上报告的 8 个显著位点与尿石症的关联。我们使用 624 例肾结石患者和 1008 例对照进行病例对照关联分析。我们从 5q32.3 中选择了包括 rs12654812 和 rs11746443 在内的单核苷酸多态性（SNP）；从 7q14.3 中选择了 rs12669187 和 rs1000597；从 13q14.1 中选择了 rs7981733、rs4142110 和 rs17646069；从 16p12.3 中选择了 rs4293393，这些 SNP 之前被报道与肾结石有关。我们发现这 8 个报告的 SNP 中没有一个与中国汉族人群的尿石症风险显著相关，这表明中国和日本人群中钙结石形成的机制可能存在差异。rs12669187 的 A 等位基因与血清镁水平升高显著相关。rs1000597 的 C 等位基因与血清肌酐、尿酸、钙水平升高和尿 pH 值降低有关。rs4142110 的 T 等位基因与血清镁、磷水平升高和 AKP 水平降低有关。rs4293393 的 G 等位基因与血清 CO 水平升高有关。这些 SNP 的风险等位基因与电解质代谢有关，可能导致尿石症的形成。
