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BioMed Research International
Volume 2014 (2014), Article ID 397826, 6 pages
http://dx.doi.org/10.1155/2014/397826
Research Article

Study of the Association between ITPKC Genetic Polymorphisms and Calcium Nephrolithiasis

1Department of Nephrology, Chi-Mei Medical Center, Tainan 710, Taiwan
2Medical Laboratory Science and Biotechnology, Chung Hwa University of Medical Technology, Tainan 717, Taiwan
3Department of Urology, College of Medicine, Kaohsiung Medical University, Kaohsiung 807, Taiwan
4Department of Clinical Pharmacy, Taipei Medical University, Taipei 110, Taiwan
5Cancer Center, Kaohsiung Medical University Hospital, Kaohsiung 807, Taiwan
6Department of Clinical Medicine, Kaohsiung Medical University, Kaohsiung 807, Taiwan
7Master Program for Clinical Pharmacogenomics and Pharmacoproteomics, School of Pharmacy, Taipei Medical University, Taipei 110, Taiwan
8Department of Pharmacy, Taipei Medical University, Wanfang Hospital, Taipei 116, Taiwan

Received 26 November 2013; Accepted 15 January 2014; Published 3 March 2014

Academic Editor: Shuen-Iu Hung

Copyright © 2014 Wei-Chih Kan et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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 ( ) and Cockcroft-Gault ( ) 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.