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

研究成果: 雜誌貢獻文章

16 引文 (Scopus)

摘要

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.
原文英語
頁(從 - 到)1742-1746
頁數5
期刊Journal of Urology
185
發行號5
DOIs
出版狀態已發佈 - 五月 2011
對外發佈Yes

指紋

Nephrolithiasis
Calcium
Recurrence
Single Nucleotide Polymorphism
Genes
Haplotypes
Genetic Polymorphisms
Chi-Square Distribution
Calcium Channels
Case-Control Studies
Alleles
Genotype

ASJC Scopus subject areas

  • Urology

引用此文

A polymorphism of the ORAI1 gene is associated with the risk and recurrence of calcium nephrolithiasis. / Chou, Yii-Her; Juo, Suh-Hang Hank; Chiu, Yi-Ching; Liu, Mu-En; Chen, Wei-Chiao; Chang, Chen-Chia; Chang, Wei Pin; Chang, Jan-Gowth; Chang, Wei-Chiao.

於: Journal of Urology, 卷 185, 編號 5, 05.2011, p. 1742-1746.

研究成果: 雜誌貢獻文章

Chou, Yii-Her ; Juo, Suh-Hang Hank ; Chiu, Yi-Ching ; Liu, Mu-En ; Chen, Wei-Chiao ; Chang, Chen-Chia ; Chang, Wei Pin ; Chang, Jan-Gowth ; Chang, Wei-Chiao. / A polymorphism of the ORAI1 gene is associated with the risk and recurrence of calcium nephrolithiasis. 於: Journal of Urology. 2011 ; 卷 185, 編號 5. 頁 1742-1746.
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title = "A polymorphism of the ORAI1 gene is associated with the risk and recurrence of calcium nephrolithiasis",
abstract = "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{\circledR} 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.",
keywords = "calcium channels, gene expression, kidney, nephrolithiasis, polymorphism, single nucleotide",
author = "Yii-Her Chou and Juo, {Suh-Hang Hank} and Yi-Ching Chiu and Mu-En Liu and Wei-Chiao Chen and Chen-Chia Chang and Chang, {Wei Pin} and Jan-Gowth Chang and Wei-Chiao Chang",
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T1 - A polymorphism of the ORAI1 gene is associated with the risk and recurrence of calcium nephrolithiasis

AU - Chou, Yii-Her

AU - Juo, Suh-Hang Hank

AU - Chiu, Yi-Ching

AU - Liu, Mu-En

AU - Chen, Wei-Chiao

AU - Chang, Chen-Chia

AU - Chang, Wei Pin

AU - Chang, Jan-Gowth

AU - Chang, Wei-Chiao

PY - 2011/5

Y1 - 2011/5

N2 - 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.

AB - 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.

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KW - single nucleotide

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