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

Research output: Contribution to journalArticle

15 Citations (Scopus)

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® 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.

Original languageEnglish
Pages (from-to)1742-1746
Number of pages5
JournalJournal of Urology
Volume185
Issue number5
DOIs
Publication statusPublished - May 2011
Externally publishedYes

Fingerprint

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

Keywords

  • calcium channels
  • gene expression
  • kidney
  • nephrolithiasis
  • polymorphism
  • single nucleotide

ASJC Scopus subject areas

  • Urology

Cite this

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.

In: Journal of Urology, Vol. 185, No. 5, 05.2011, p. 1742-1746.

Research output: Contribution to journalArticle

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. In: Journal of Urology. 2011 ; Vol. 185, No. 5. pp. 1742-1746.
@article{5739e6cb1aab401ab1c5d0d0b33650ab,
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",
year = "2011",
month = "5",
doi = "10.1016/j.juro.2010.12.094",
language = "English",
volume = "185",
pages = "1742--1746",
journal = "Journal of Urology",
issn = "0022-5347",
publisher = "Elsevier Inc.",
number = "5",

}

TY - JOUR

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.

KW - calcium channels

KW - gene expression

KW - kidney

KW - nephrolithiasis

KW - polymorphism

KW - single nucleotide

UR - http://www.scopus.com/inward/record.url?scp=79953802622&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=79953802622&partnerID=8YFLogxK

U2 - 10.1016/j.juro.2010.12.094

DO - 10.1016/j.juro.2010.12.094

M3 - Article

C2 - 21420116

AN - SCOPUS:79953802622

VL - 185

SP - 1742

EP - 1746

JO - Journal of Urology

JF - Journal of Urology

SN - 0022-5347

IS - 5

ER -