纤连蛋白基因的HindIII多态性与肾结石有关。
A HindIII polymorphism of fibronectin gene is associated with nephrolithiasis.
作者信息
Onaran Metin, Yilmaz Akin, Sen Ilker, Ergun Mehmet Ali, Camtosun Ahmet, Küpeli Bora, Menevşe Sevda, Bozkirli Ibrahim
机构信息
Department of Urology, School of Medicine, Gazi University, Ankara, Turkey.
出版信息
Urology. 2009 Nov;74(5):1004-7. doi: 10.1016/j.urology.2009.05.010. Epub 2009 Jul 17.
OBJECTIVES
To evaluate the association between fibronectin gene (FN1) polymorphisms and calcium oxalate nephrolithiasis as a genetic risk factor.
METHODS
Genomic DNA of 143 patients with calcium oxalate nephrolithiasis and 154 healthy controls were screened for polymorphisms (HaeIII b, MspI, and HindIII) of the FN1 gene, using polymerase chain reaction-restriction fragments length polymorphism method. Allele and genotype frequencies were compared between the groups.
RESULTS
Although the observed differences between distribution of genotypes of AA, AB, and BB (for HaeIII b), as well as CC, CD, and DD (MspI) were not significant, FF genotype for HindIII showed significant difference when compared with both EF and EE + EF genotype (P = .00202 and P = .00203, respectively).
CONCLUSIONS
The results of our study revealed that HindIII polymorphism of the FN1 gene is highly associated with calcium oxalate stone disease. This association makes FN a good candidate for further studies about the etiology of stone disease, and in the future it could be a candidate marker for evaluating the genetic risks in patients with nephrolithiasis.
目的
评估纤连蛋白基因（FN1）多态性作为遗传危险因素与草酸钙肾结石之间的关联。
方法
采用聚合酶链反应-限制性片段长度多态性方法，对143例草酸钙肾结石患者和154例健康对照者的基因组DNA进行FN1基因多态性（HaeIII b、MspI和HindIII）筛查。比较两组之间的等位基因和基因型频率。
结果
尽管观察到的AA、AB和BB（HaeIII b）以及CC、CD和DD（MspI）基因型分布差异不显著，但与EF和EE + EF基因型相比，HindIII的FF基因型显示出显著差异（分别为P = 0.00202和P = 0.00203）。
结论
我们的研究结果表明，FN1基因的HindIII多态性与草酸钙结石病高度相关。这种关联使FN成为进一步研究结石病病因的良好候选基因，未来它可能成为评估肾结石患者遗传风险的候选标志物。
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