Study of the association between ITPKC genetic polymorphisms and calcium Nephrolithiasis

Wei Chih Kan, Yii Her Chou, Siou Jin Chiu, Yu Wen Hsu, Hsing Fang Lu, Wenli Hsu, Wei Chiao Chang

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Nephrolithiasis is a multifactorial disease caused by environmental, hormonal, and genetic factors. Genetic polymorphisms of ORAI1, which codes for the main subunit of the store-operated calcium (SOC) channel, were reported to be associated with the risk and recurrence of calcium nephrolithiasis. Inositol 1,4,5-trisphosphate (IP3) 3-kinase C (ITPKC) is a negative regulator of the SOC channel-mediated signaling pathway. We investigated the association between calcium containing nephrolithiasis and genetic variants of ITPKC gene in Taiwanese patients. 365 patients were recruited in this study. Eight tagging single nucleotide polymorphisms of ITPKC were selected for genotyping. ITPKC genotypes were determined by TaqMan assay. ITPKC plasmids were transfected into cells to evaluate the intracellular calcium mobilization. Our results indicated that rs2607420 CC genotype in the intron region of the ITPKC gene is associated with a lower eGFR by both Modification of Diet in Renal Diseases (P=0.0405) and Cockcroft-Gault (P=0.0215) equations in patients with calcium nephrolithiasis. Our results identify a novel polymorphism for renal function and highlight the importance of ITPKC as a key molecule to regulate calcium signaling.

Original languageEnglish
Article number397826
JournalBioMed Research International
Volume2014
DOIs
Publication statusPublished - 2014

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Nephrolithiasis
Genetic Polymorphisms
Polymorphism
Association reactions
Calcium
Inositol 1,4,5-trisphosphate 3-kinase
Calcium Channels
Genotype
Diet Therapy
Kidney
Genes
Calcium Signaling
Inositol 1,4,5-Trisphosphate
Introns
Single Nucleotide Polymorphism
Nutrition
Plasmids
Assays
Recurrence
Phosphotransferases

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Immunology and Microbiology(all)
  • Medicine(all)

Cite this

Study of the association between ITPKC genetic polymorphisms and calcium Nephrolithiasis. / Kan, Wei Chih; Chou, Yii Her; Chiu, Siou Jin; Hsu, Yu Wen; Lu, Hsing Fang; Hsu, Wenli; Chang, Wei Chiao.

In: BioMed Research International, Vol. 2014, 397826, 2014.

Research output: Contribution to journalArticle

Kan, Wei Chih ; Chou, Yii Her ; Chiu, Siou Jin ; Hsu, Yu Wen ; Lu, Hsing Fang ; Hsu, Wenli ; Chang, Wei Chiao. / Study of the association between ITPKC genetic polymorphisms and calcium Nephrolithiasis. In: BioMed Research International. 2014 ; Vol. 2014.
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