A polymorphism of the ORAI1 gene is associated with the risk and recurrence of calcium nephrolithiasis

Yii-Her Chou, Suh-Hang Hank Juo, Yi-Ching Chiu, Mu-En Liu, Wei-Chiao Chen, Chen-Chia Chang, Wei Pin Chang, Jan-Gowth Chang, Wei-Chiao Chang

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23 引文 斯高帕斯(Scopus)


Purpose: Store-operated calcium entry has been considered an important factor to regulate inflammatory reactions in nonexcitable cells. However, the effects of genetic polymorphisms of ORAI1, a main component of store-operated calcium channels, on nephrolithiasis and stone recurrence remain unclear. We investigated the association between calcium containing nephrolithiasis and genetic variants of ORAI1 gene in Taiwanese patients. Materials and Methods: A case-control study was performed in 136 patients with nephrolithiasis and 500 controls. Five tagging single nucleotide polymorphisms of ORAI1 were selected for genotyping. ORAI1 genotypes were determined by TaqMan® assay. Hardy-Weinberg equilibrium in cases and controls was assessed, and genetic effects were evaluated by the chi-square test and sliding window haplotype analysis. Subset analysis was done according to family history. Results: Two single nucleotide polymorphisms (rs12313273 and rs6486795) of the ORAI1 gene were associated with the risk of nephrolithiasis. The C allele carrier for rs12313273 was strongly related to recurrent stone forming in patients. On sliding window analysis the results of the 2 (rs12313273 and rs7135617) and the 3 (rs12313273, rs7135617 and rs6486795) single nucleotide polymorphism haplotypes had more significant effects on the risk of nephrolithiasis than the single nucleotide polymorphism rs12313273. Conclusions: To our knowledge this is the first study identifying the novel polymorphisms of the ORAI1 gene, which may predispose to the risk of calcium nephrolithiasis and disease recurrence.
頁(從 - 到)1742-1746
期刊Journal of Urology
出版狀態已發佈 - 5月 2011

ASJC Scopus subject areas

  • 泌尿科學


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