Top

Published in:

01-02-2009 | Original Paper

Heparan sulfate gene polymorphism in calcium oxalate nephrolithiasis

Authors: Metin Onaran, Akın Yılmaz, İlker Şen, Mehmet Ali Ergun, Ahmet Çamtosun, Bora Küpeli, Sevda Menevse, İbrahim Bozkırlı

Published in: Urolithiasis | Issue 1/2009

Abstract

Calcium oxalate (CaOx) nephrolithiasis has a complex pathogenic mechanism. Besides environmental factors, genetic factors also have influence on stone formation. This study represents the effects of heparan sulfate (HSPG2) gene polymorphism for determining the risk of urolithiasis. We investigated 143 CaOx stone formers with 158 healthy individuals for the BamHI restriction site polymorphism located in intron 6 of the HSPG gene using the polymerase chain reaction, restriction fragments length polymorphism method. After digestion with BamHI, the polymorphism was assumed to cause three genotypes according to the banding types as GG (242 bp), GT (242, 144, and 98 bp) and TT (144 and 98 bp). According to the genotype frequencies between the groups, TT genotype showed significantly increased risk for urolithiasis than TG and GG genotypes. We concluded that HSPG2 gene polymorphism might be one of the genetic factors affecting the CaOx stone formation.

Pearle MS, Lotan Y (2007) Urinary lithiasis: etiology, epidemiology, and pathogenesis. In: Wein AJ, Kavoussi LR, Novick AC, Partin AW, Peters CA (eds) Campbell’s Urology, 9th edn. Saunders, Philadelphia, pp 1363–1392

Khan SR (2004) Role of epithelial cells in the initiation of calcium oxalate stones. Nephron Exp Nephrol 98:E55–E60. doi:10.1159/000080257 PubMedCrossRef

De Yoreo JJ, Qiu SR, Hoyer JR (2006) Molecular modulation of calcium oxalate crystallization. Am J Physiol Renal Physiol 291(6):F1123–F1131. doi:10.1152/ajprenal.00136.2006 PubMedCrossRef

Kumar V, Lieske JC (2006) Protein regulation of intrarenal crystallization. Curr Opin Nephrol Hypertens 15(4):374–380. doi:10.1097/01.mnh.0000232877.12599.f4 PubMed

Nakagawa Y, Ahmed M, Hall SL, Deganello S et al (1987) Isolation from human calcium oxalate renal stones of nephrocalcin, a glycoprotein inhibitor of calcium oxalate crystal growth. Evidence that nephrocalcin from patients with calcium oxalate nephrolithiasis is deficient in gamma-carboxyglutamic acid. J Clin Invest 79(6):1782–1787. doi:10.1172/JCI113019 PubMedCrossRef

Groffen AJ, Veerkamp JH, Monnens LA et al (1999) Recent insights into the structure and functions of heparan sulfate proteoglycans in the human glomerular basement membrane. Nephrol Dial Transplant 14(9):2119–2129. doi:10.1093/ndt/14.9.2119 PubMedCrossRef

Fellström B, Danielson BG, Ljunghall S et al (1986) Crystal inhibition: the effects of polyanions on calcium oxalate crystal growth. Clin Chim Acta 158(3):229–235. doi:10.1016/0009-8981(86)90286-X PubMedCrossRef

Angell AH, Resnick MI (1989) Surface interaction between glycosaminoglycans and calcium oxalate. J Urol 141(5):1255–1258PubMed

Michelacci YM, Glashan RQ, Schor N (1989) Urinary excretion of glycosaminoglycans in normal and stone forming subjects. Kidney Int 36(6):1022–1028. doi:10.1038/ki.1989.296 PubMedCrossRef

10.

Stechman MJ, Loh NY, Thakker RV (2007) Genetics of hypercalciuric nephrolithiasis: renal stone disease. Ann N Y Acad Sci 1116:461–484. doi:10.1196/annals.1402.030 PubMedCrossRef

11.

Gao B, Yasui T, Itoh Y et al (2007) A polymorphism of matrix Gla protein gene is associated with kidney stones. J Urol 177(6):2361–2365. doi:10.1016/j.juro.2007.01.118 PubMedCrossRef

12.

Okamoto N, Aruga S, Matsuzaki S et al (2007) Associations between renal sodium-citrate cotransporter (hNaDC-1) gene polymorphism and urinary citrate excretion in recurrent renal calcium stone formers and normal controls. Int J Urol 14(4):344–349. doi:10.1111/j.1442-2042.2007.01554.x PubMedCrossRef

13.

Hansen PM, Chowdhury T, Deckert T et al (1997) Genetic variation of the heparan sulfate proteoglycan gene (perlecan gene). Association with urinary albumin excretion in IDDM patients. Diabetes 46(10):1658–1659PubMed

14.

Khan SR, Kok DJ (2004) Modulators of urinary stone formation. Front Biosci 9:1450–1482. doi:10.2741/1347 PubMedCrossRef

15.

Iida S, Ishimatsu M, Chikama S et al (2003) Protective role of heparin/heparan sulfate on oxalate-induced changes in cell morphology and intracellular Ca²⁺. Urol Res 31(3):198–206. doi:10.1007/s00240-003-0317-2 PubMedCrossRef

16.

Scheid CR, Cao LC, Honeyman T et al (2004) How elevated oxalate can promote kidney stone disease: changes at the surface and in the cytosol of renal cells that promote crystal adherence and growth. Front Biosci 9:797–808. doi:10.2741/1265 PubMedCrossRef

17.

Borges FT, Michelacci YM, Aguiar JA et al (2005) Characterization of glycosaminoglycans in tubular epithelial cells: calcium oxalate and oxalate ions effects. Kidney Int 68(4):1630–1642. doi:10.1111/j.1523-1755.2005.00577.x PubMedCrossRef

18.

Chan VS, Tan EC, Li MK (1995) Determination of heparan sulphate in kidney tissues of patients with calcium nephrolithiasis. Urol Res 23(5):339–342. doi:10.1007/BF00300024 PubMedCrossRef

19.

Chikama S, Iida S, Inoue M et al (2002) Role of heparan sulfate proteoglycan (syndecan-1) on the renal epithelial cells during calcium oxalate monohydrate crystal attachment. Kurume Med J 49(4):201–210PubMed

20.

Eguchi Y, Inoue M, Iida S et al (2002) Heparan sulfate (HS)/heparan sulfate proteoglycan (HSPG) and bikunin are up-regulated during calcium oxalate nephrolithiasis in rat kidney. Kurume Med J 49(3):99–107PubMed

21.

Iida S, Inoue M, Yoshii S et al (1999) Molecular detection of heparan sulfate proteoglycan mRNA in rat kidney during calcium oxalate nephrolithiasis. J Am Soc Nephrol 10(Suppl 14):S412–S416. doi:10.1159/000017180 PubMed

22.

Groffen AJ, Hop FW, Tryggvason K et al (1997) Evidence for the existence of multiple heparan sulfate proteoglycans in the human glomerular basement membrane and mesangial matrix. Eur J Biochem 247(1):175–182. doi:10.1111/j.1432-1033.1997.00175.x PubMedCrossRef

23.

Pyke C, Kristensen P, Ostergaard PB et al (1997) Proteoglycan expression in the normal rat kidney. Nephron 77(4):461–470PubMedCrossRef

24.

Iivonen S, Helisalmi S, Mannermaa A et al (2003) Heparan sulfate proteoglycan 2 polymorphism in Alzheimer’s disease and correlation with neuropathology. Neurosci Lett 352(2):146–150. doi:10.1016/j.neulet.2003.08.041 PubMedCrossRef

25.

Datta MW, Hernandez AM, Schlicht MJ et al (2006) Perlecan, a candidate gene for the CAPB locus, regulates prostate cancer cell growth via the Sonic Hedgehog pathway. Mol Cancer 5:9. doi:10.1186/1476-4598-5-9 PubMedCrossRef

26.

Arikawa-Hirasawa E, Le AH, Nishino I et al (2002) Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. Am J Hum Genet 70(5):1368–1375. doi:10.1086/340390 PubMedCrossRef

27.

Liu L, Xiang K, Zheng T et al (2003) The heparan sulfate proteoglycan gene polymorphism: association with type 2 diabetic nephropathy in Chinese. Mol Cell Biochem 245(1–2):121–126. doi:10.1023/A:1022870128494 PubMedCrossRef

Title: Heparan sulfate gene polymorphism in calcium oxalate nephrolithiasis
Authors: Metin Onaran
Akın Yılmaz
İlker Şen
Mehmet Ali Ergun
Ahmet Çamtosun
Bora Küpeli
Sevda Menevse
İbrahim Bozkırlı
Publication date: 01-02-2009
Publisher: Springer-Verlag
Published in: Urolithiasis / Issue 1/2009
Print ISSN: 2194-7228
Electronic ISSN: 2194-7236
DOI: https://doi.org/10.1007/s00240-008-0167-z

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Heparan sulfate gene polymorphism in calcium oxalate nephrolithiasis

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 1/2009

Implications of oxidative stress in the pathophysiology of obstructive uropathy

Ureteric guidewire damage by Holmium:YAG laser: preliminary results

Effect of two sports drinks on urinary lithogenicity

The effect of calcium on calcium oxalate monohydrate crystal-induced renal epithelial injury

cDNA macroarray analysis of genes in renal epithelial cells exposed to calcium oxalate crystals

Mechanism of formation of concentrically laminated spherules: implication to Randall’s plaque and stone formation