Study of the association between ITPKC genetic polymorphisms and calcium nephrolithiasis.
Wei-Chih KanYii-Her ChouSiou-Jin ChiuYu-Wen HsuHsing-Fang LuWenli HsuWei-Chiao ChangPublished in: BioMed research international (2014)
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.
Keyphrases
- end stage renal disease
- ejection fraction
- signaling pathway
- newly diagnosed
- chronic kidney disease
- small cell lung cancer
- peritoneal dialysis
- prognostic factors
- induced apoptosis
- tyrosine kinase
- high throughput
- physical activity
- mass spectrometry
- gene expression
- metabolic syndrome
- type diabetes
- skeletal muscle
- epidermal growth factor receptor
- patient reported outcomes
- multidrug resistant
- cell proliferation
- oxidative stress
- single molecule
- reactive oxygen species
- human health
- real time pcr
- klebsiella pneumoniae
- atomic force microscopy
- climate change