Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.
ADVANCED SEARCH
Log in
Top
Urolithiasis
Published in: Urolithiasis 5/2014

01-10-2014 | Original Paper

Association study of DGKH gene polymorphisms with calcium oxalate stone in Chinese population

Authors: Yong Xu, Guohua Zeng, Zanlin Mai, Lili Ou

Published in: Urolithiasis | Issue 5/2014

Login to get access

Abstract

Diacylglycerol kinase eta (DGKH) participates in regulating the intracellular concentrations of two bioactive lipids, diacylglycerol and phosphatidic acid. With the emerging evidence of a novel regulatory function for diacylglycerol kinase and diacylglycerol in transplasmalemmal calcium ion influx, the present study was designed to investigate the association between DGKH genetic polymorphisms and calcium oxalate stone. 507 patients with calcium oxalate stone and 505 healthy cohorts as control were entered in this prospective study. Three tag single nucleotide polymorphisms (rs4142110, rs180870 and rs17646069) were investigated. Genotyping was carried out by iPLEX Gold for MassARRAY system. Our results showed that rs4142110 was associated with risk of calcium oxalate stone and hypercalciuria (P < 0.05). The T allele, CT genotype, TT genotype, and the combined T variant genotype (TT + CT) of rs4142110 significantly decreased calcium oxalate stone risk (P < 0.05). Rs180870 also showed significant association in genotype distributions between cases and controls (P = 0.042). Hypercalciuria was more prevalent in stone formers (P = 0.010). These findings implicate a link between nucleotide variant of DGKH and a cause for a complex-trait disease, calcium oxalate stone. Similar relationship might also exist between polymorphism of DGKH and hypercalciuria.
Literature
1.
Lewandowski S, Rodgers AL (2004) Idiopathic calcium oxalate urolithiasis: risk factors and conservative treatment. Clin Chim Acta 345:17–34PubMedCrossRef
2.
Bihl G, Meyers A (2001) Recurrent renal stone disease-advances in pathogenesis and clinical management. Lancet 358:651–656PubMedCrossRef
3.
4.
5.
Miyazawa K, Suzuki K (2011) Gene expression and its role on urolithiasis. Clin Calcium 21:1473–1479PubMed
6.
Telci D, Dogan A, Ozbek E, Polat E, Simsek A et al (2011) KLOTHO gene polymorphism of G395A is associated with kidney stones. Am J Nephrol 33:337–343PubMedCrossRef
7.
Lu X, Gao B, Liu Z, Tian X, Mao X et al (2012) Polymorphism of matrix Gla protein gene is associated with kidney stone in the Chinese Han population. Gene 511:127–130PubMedCrossRef
8.
Goldfarb DS, Fischer ME, Keich Y, Goldberg J (2005) A twin study of genetic and dietary influences on nephrolithiasis: a report from the Vietnam Era Twin (VET) Registry. Kidney Int 67:1053–1061PubMedCrossRef
9.
Urabe Y, Tanikawa C, Takahashi A (2012) A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1. PLoS Genet 8:e1002541PubMedCrossRefPubMedCentral
10.
Yosifova A, Mushiroda T, Kub M, Takahashi A, Kamatani Y et al (2011) Genome-wide association study on bipolar disorder in the Bulgarian population. Genes Brain Behav 10:789–797PubMedCrossRef
11.
Sakai H, Sakane F (2012) Recent progress on type II diacylglycerol kinases: the physiological functions of diacylglycerol kinase δ, η and κ and their involvement in disease. J Biochem 152:397–406PubMedCrossRef
12.
Marumo M, Nakano T, Takeda Y, Goto K, Wakabayashi I (2012) Inhibition of thrombin-induced Ca2+ influx in platelets by R59949, an inhibitor of diacylglycerol kinase. J Pharm Pharmacol 64:855–861PubMedCrossRef
13.
Murakami T, Sakane F, Imai S, Houkin K, Kanoh H (2003) Identification and characterization of two splice variants of human diacylglycerol kinase eta. J Biol Chem 278:34364–343672PubMedCrossRef
14.
Gupta J, Gaikwad A, Tikoo K (2010) Hepatic expression profiling shows involvement of PKC epsilon, DGK eta, Tnfaip, and Rho kinase in type 2 diabetic nephropathy rats. J Cell Biochem 111:944–954PubMedCrossRef
15.
Aruga S, Honma Y (2011) Renal calcium excretion and urolithiasis. Clin Calcium 21:1465–1472PubMed
16.
Arrabal-Polo MA, Arias-Santiago S, Giron-Priet MS, Abad-Menor F, Lopez-Carmona Pintado F, Arrabal-Martin M et al (2012) Hypercalciuria, hyperoxaluria, and hypocitraturia screening from random urine samples in patients with calcium lithiasis. Urol Res 40:511–515PubMedCrossRef
17.
Dawson CH, Tomson CR (2012) Kidney stone disease: pathophysiology, investigation and medical treatment. Clin Med 12:467–471PubMedCrossRef
18.
19.
Frick KK, Asplin JR, Krieger NS, Culbertson CD, Asplin DM et al (2013) 1,25(OH)2D3-enhanced hypercalciuria in genetic hypercalciuric stone-forming rats fed a low-calcium diet. Am J Physiol Renal Physiol 305:1132–1138CrossRef
20.
Geetha K, Manavalan R, Venkappayya D (2010) Control of urinary risk factors of stone formation by Salvadora persica in experimental hyperoxaluria. Methods Find Exp Clin Pharmacol 32:623–629PubMedCrossRef
21.
Bergsland KJ, Zisman AL, Asplin JR, Worcester EM, Coe FL (2011) Evidence for net renal tubule oxalate secretion in patients with calcium kidney stones. Am J Physiol Renal Physiol 300:311–318CrossRef
22.
Parvin M, Shakhssalim N, Basiri A, Miladipour A (2011) The most important metabolic risk factors in recurrent urinary stone formers. Urol J 8:99–106PubMed
23.
24.
25.
Davalos M, Konno S, Eshghi M, Choudhury M (2010) Oxidative renal cell injury induced by calcium oxalate crystal and renoprotection with antioxidants: a possible role of oxidative stress in nephrolithiasis. J Endourol 24:339–345PubMedCrossRef
26.
Carrasco-Valiente J, Anglada-Curado FJ, Aguilar-Melero P, Gonzalez-Ojeda R, Muntane-Relat J et al (2012) State of acute phase markers and oxidative stress in patients with kidney stones in the urinary tract. Actas Urol Esp 36:296–301PubMedCrossRef
27.
Khan S (2013) Reactive oxygen species as the molecular modulators of calcium oxalate kidney stone formation: evidence from clinical and experimental investigations. J Urol 189:803–811PubMedCrossRef
28.
Thamilselvan V, Menon M, Thamilselvan S (2012) Selective Rac1 inhibition protects renal tubular epithelial cells from oxalate-induced NADPH oxidase-mediated oxidative cell injury. Urol Res 40:415–423PubMedCrossRefPubMedCentral
Metadata
Title
Association study of DGKH gene polymorphisms with calcium oxalate stone in Chinese population
Authors
Yong Xu
Guohua Zeng
Zanlin Mai
Lili Ou
Publication date
01-10-2014
Publisher
Springer Berlin Heidelberg
Published in
Urolithiasis / Issue 5/2014
Print ISSN: 2194-7228
Electronic ISSN: 2194-7236
DOI
https://doi.org/10.1007/s00240-014-0692-x

Other articles of this Issue 5/2014

Urolithiasis 5/2014 Go to the issue

Original Paper

Oxidative stress and nephrolithiasis: a comparative pilot study evaluating the effect of pomegranate extract on stone risk factors and elevated oxidative stress levels of recurrent stone formers and controls

Original Paper

Does percutaneous nephrolithotomy and its outcomes have an impact on renal function? Quantitative analysis using SPECT-CT DMSA

Original Paper

Hemostatic agents used for nephrostomy tract closure after tubeless PCNL: a systematic review and meta-analysis

Original Paper

Minipercutaneous nephrolithotomy in infants: a single-center experience in an endemic region in Turkey

Original Paper

The change in upper tract urolithiasis composition, surgical treatments and outcomes of para and quadriplegic patients over time

Erratum

Erratum to: Real-time ultrasound-guided PCNL using a novel SonixGPS needle tracking system