rs11567842 SNP in SLC13A2 gene associates with hypocitraturia in Thai patients with nephrolithiasis

Genes & Genomics
Pattarin UdomsilpPiyaratana Tosukhowong

Abstract

Hypocitraturia is a profound risk for kidney stone formation and recurrence. Sodium-dicarboxylate cotransporter-1 (NaDC-1) is a main transporter responsible for citrate reabsorption in renal proximal tubules. To investigate an association of sodium-dicarboxylate cotransporter-1 (NaDC-1) polymorphism with hypocitraturia in Thai patients with nephrolithiasis (NL). Exonic SNPs in NaDC-1 were screened in peripheral blood DNA of 13 NL patients. The rs11567842 (A/G) variant was found and further genotyped in 145 NL patients and 115 non-stone forming controls. NL patients had significantly lower level of urinary citrate than the controls. Based on logistic regression, hypocitraturia was significantly associated with urinary stone formation (adjusted OR 8.34, 95% CI 4.63-15.04). Significant association of urinary citrate level with rs11567842 genotype was found only in the NL group. NL patients with GG genotype had significantly higher urinary citrate than those with AA and AG genotypes. GG carrying patients had significantly reduced risk for hypocitraturia (adjusted OR 0.15; 95% CI 0.05-0.48, AA as reference). In selected 15 calcium oxalate stone patients, AA carriers had significantly higher intrarenal NaDC-1 mRNA than GG and AG carr...Continue Reading

References

Apr 1, 1992·The Journal of Urology·K SakhaeeC Y Pak
Oct 24, 1997·Urology·C Y PakG M Preminger
Oct 23, 2004·Nephron. Physiology·R J UnwinD G Shirley
Mar 31, 2005·Journal of Endourology·Ojas ShahRoss P Holmes
May 10, 2005·The Journal of Urology·Michaella E MaloneyGlenn M Preminger
Jan 4, 2007·International Journal of Urology : Official Journal of the Japanese Urological Association·Naohiko OkamotoTadaichi Kitamura
May 2, 2007·International Journal of Urology : Official Journal of the Japanese Urological Association·Naohiko OkamotoTadaichi Kitamura
Jul 9, 2010·American Journal of Physiology. Renal Physiology·Ana M Pajor, Nina N Sun
Mar 9, 2012·Urologia Internationalis·Walter Ludwig StrohmaierGernot Schubert
May 4, 2013·Saudi Journal of Kidney Diseases and Transplantation : an Official Publication of the Saudi Center for Organ Transplantation, Saudi Arabia·N S HusseinM N Gohar

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Citations

Dec 29, 2019·Pharmacological Reviews·Tina SchumannAndreas L Birkenfeld

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