HAO-1基因多态性与肾草酸钙结石易感性的相关研究

Study of HAO-1 gene polymorphism associated with susceptibility of calcium oxalate stone

目的人体草酸离子的代谢通路可能为草酸钙结石的预防及治疗提供新的思路。HAO-1在草酸代谢生成的通路中至关重要,然而HAO-1基因突变对草酸代谢影响的报道仍较少。因此,我们挑选了两个可能存在潜在功能的单核苷酸多态性(SNP)以研究这些基因突变与肾草酸钙结石的易感性的关系。方法此病例对照研究纳入了582名肾草酸钙结石患者及499名健康对照。研究选择了HAO-1 rs3747926及rs12624817两个SNP位点,并采用TaqMan方法检测多态性位点的基因型。研究运用Logistic回归模型对数据进行了统计研究。结果研究发现HAO-1 rs12624817多态性的基因型频率在病例组与和对照组人群中的分布具有显著的统计学差异。和A等位基因相比,C等位基因是罹患肾草酸钙结石的一个危险性因素。结论本研究的结果证实了HAO-1基因多态性与肾草酸钙结石易感性的相关性。

Objective The metabolic pathway of human oxalate may provide new ideas for the prevention and treatment of calcium oxalate stones.HAO-1 is crucial in the pathway of oxalate metabolism,but there are still few reports on the effects of HAO-1 gene mutation on oxalate metabolism.Therefore,we selected two single nucleotide polymorphisms(SNPs)that may have potential functions to investigate the relationship between these mutations and the susceptibility to calcium oxalate stone.Methods This case-control study included 582 patients with calcium oxalate stones and 499 healthy controls.Two SNPs of HAO-1 were selected and the genotype of polymorphisms was detected by TaqMan method.The study used Logistic model to conduct statistical research on the data.Results The study found that the HAO-1 rs12624817 polymorphism was significantly different between the case group and the control group.Compared with the A allele,the C allele is a risk factor for calcium oxalate stones.Conclusion The results of this study confirm the association between HAO-1 gene polymorphism and susceptibility of calcium oxalate stone.