Association Between Polymorphisms in Osteopontin Gene (SPP1) and First Episode Calcium Oxalate Urolithiasis

Overview

Journal Urolithiasis

Publisher Springer

Specialty Urology

Date 2013 Jun 21

PMID 23784265

Citations 14

Authors

Mohammad Reza Safarinejad

Nayyer Shafiei

Shiva Safarinejad

Affiliations

Soon will be listed here.

Abstract

We examined whether single nucleotide polymorphisms (SNPs) in SPP1 gene are associated with risk of calcium oxalate urolithiasis (COU). We genotyped nine known SNPs in SPP1 gene (rs11739060, rs28357094, rs2728127, rs11730582, rs1126772, rs9138, rs2853744, rs4754=p.Asp80Asp, and rs1126616=p.Ala236Ala). Genomic DNA from 1,026 individuals (n = 342 patients with first episode COU, and n = 684 healthy unrelated controls) was analyzed for nine SPP1 SNPs using polymerase chain reaction and melting curve analysis by means of a pair of fluorescence resonance energy transfer probes. Serum and urine osteopontin (OPN) levels were also measured using enzyme-linked immunosorbent assay kits. rs9138 AA genotype was protective (OR 0.62, 95 % CI 0.47-0.81; P = 0.004). rs28357094 TT genotype (OR 2.52, 95 % CI 1.74-3.79; P = 0.021), rs2728127 GG genotype (OR 2.64, 95 % CI 1.42-4.81; P = 0.002), and rs2853744 GG genotype (OR 1.68, 95 % CI 1.22-3.87; P = 0.003) were predisposing. None of the other examined SPP1 SNPs was associated with COU susceptibility. Subjects with protective and predisposing polymorphisms had increased and decreased serum levels of OPN, respectively. Urinary calcium/OPN ratios were higher and lower in subjects with predisposing and protective SNPs of SPP1 gene, respectively. Of 28 constructed haplotypes, 6 demonstrated significant association with COU risk. There was no sex difference in the obtained results. The SPP1 gene polymorphisms are associated with the COU susceptibility.

Citing Articles

Association of the rs1126616 and rs9138 Variants in the Gene among Mexican Patients with Systemic Lupus Erythematosus and Lupus Nephritis.

Rivera-Cameras A, Gallegos-Arreola M, Moran-Moguel M, Salazar-Paramo M, Alcaraz-Lopez M, Echeverria-Gonzalez G Int J Mol Sci. 2024; 25(2).

PMID: 38256074 PMC: 10816335. DOI: 10.3390/ijms25021000.

Kidney stone matrix proteins: Role in stone formation.

Negri A, Spivacow F World J Nephrol. 2023; 12(2):21-28.

PMID: 37035509 PMC: 10075018. DOI: 10.5527/wjn.v12.i2.21.

Genetic Polymorphisms and Kidney Stones Around the Globe: A Systematic Review and Meta-Analysis.

Mohammadi A, Namazi Shabestari A, Zareian Baghdadabad L, Khatami F, Reis L, Pishkuhi M Front Genet. 2022; 13:913908.

PMID: 35846117 PMC: 9280078. DOI: 10.3389/fgene.2022.913908.

Genetics of osteopontin in patients with chronic kidney disease: The German Chronic Kidney Disease study.

Cheng Y, Li Y, Scherer N, Grundner-Culemann F, Lehtimaki T, Mishra B PLoS Genet. 2022; 18(4):e1010139.

PMID: 35385482 PMC: 9015153. DOI: 10.1371/journal.pgen.1010139.

Identification of the pivotal role of SPP1 in kidney stone disease based on multiple bioinformatics analysis.

Hong S, Xia Q, Xu J, Liu C, Sun J, Xun Y BMC Med Genomics. 2022; 15(1):7.

PMID: 35016690 PMC: 8751247. DOI: 10.1186/s12920-022-01157-4.

References

Glas J, Seiderer J, Nagy M, Fries C, Beigel F, Weidinger M . Evidence for STAT4 as a common autoimmune gene: rs7574865 is associated with colonic Crohn's disease and early disease onset. PLoS One. 2010; 5(4):e10373. PMC: 2861592. DOI: 10.1371/journal.pone.0010373. View

Lee Y, Huang W, Tsai J, Lu C, Chen W, Lee M . Epidemiological studies on the prevalence of upper urinary calculi in Taiwan. Urol Int. 2002; 68(3):172-7. DOI: 10.1159/000048445. View

Wesson J, Johnson R, Mazzali M, Beshensky A, Stietz S, Giachelli C . Osteopontin is a critical inhibitor of calcium oxalate crystal formation and retention in renal tubules. J Am Soc Nephrol. 2002; 14(1):139-47. DOI: 10.1097/01.asn.0000040593.93815.9d. View

Mazzali M, Kipari T, Ophascharoensuk V, Wesson J, Johnson R, Hughes J . Osteopontin--a molecule for all seasons. QJM. 2002; 95(1):3-13. DOI: 10.1093/qjmed/95.1.3. View

Chen W, Lu H, Chen H, Hsu C, Tsai F . Arginine form of p21 gene codon 31 is less prominent in patients with calcium oxalate stone. Urol Res. 2001; 29(2):94-7. DOI: 10.1007/s002400000167. View

Wesson J, Ganne V, Beshensky A, Kleinman J . Regulation by macromolecules of calcium oxalate crystal aggregation in stone formers. Urol Res. 2005; 33(3):206-12. DOI: 10.1007/s00240-004-0455-1. View

Hesse A, Brandle E, Wilbert D, Kohrmann K, Alken P . Study on the prevalence and incidence of urolithiasis in Germany comparing the years 1979 vs. 2000. Eur Urol. 2003; 44(6):709-13. DOI: 10.1016/s0302-2838(03)00415-9. View

Suzuki K, Moriyama M, Nakajima C, Kawamura K, Miyazawa K, Tsugawa R . Isolation and partial characterization of crystal matrix protein as a potent inhibitor of calcium oxalate crystal aggregation: evidence of activation peptide of human prothrombin. Urol Res. 1994; 22(1):45-50. DOI: 10.1007/BF00431548. View

Gao B, Yasui T, Okada A, Tozawa K, Hayashi Y, Kohri K . A polymorphism of the osteopontin gene is related to urinary calcium stones. J Urol. 2005; 174(4 Pt 1):1472-6. DOI: 10.1097/01.ju.0000173012.28341.c3. View

10.

Wang S, Wang X, Wu J, Lin Y, Chen H, Zheng X . Association of vitamin D receptor gene polymorphism and calcium urolithiasis in the Chinese Han population. Urol Res. 2011; 40(4):277-84. DOI: 10.1007/s00240-011-0438-y. View

11.

Goodman H, Holmes R, Assimos D . Genetic factors in calcium oxalate stone disease. J Urol. 1995; 153(2):301-7. DOI: 10.1097/00005392-199502000-00003. View

12.

Marciano R, DAnnunzio G, Minuto N, Pasquali L, Santamaria A, Di Duca M . Association of alleles at polymorphic sites in the Osteopontin encoding gene in young type 1 diabetic patients. Clin Immunol. 2009; 131(1):84-91. DOI: 10.1016/j.clim.2008.11.004. View

13.

Yamate T, Kohri K, Umekawa T, Iguchi M, Kurita T . Osteopontin antisense oligonucleotide inhibits adhesion of calcium oxalate crystals in Madin-Darby canine kidney cell. J Urol. 1998; 160(4):1506-12. View

14.

Huang H, Ma M, Chen C, Chen J . Lipid peroxidation and its correlations with urinary levels of oxalate, citric acid, and osteopontin in patients with renal calcium oxalate stones. Urology. 2003; 62(6):1123-8. DOI: 10.1016/s0090-4295(03)00764-7. View

15.

Watts R . Idiopathic urinary stone disease: possible polygenic aetiological factors. QJM. 2005; 98(4):241-6. DOI: 10.1093/qjmed/hci041. View

16.

Kim H, Jo M, Kwak C, Park S, Yoo K, Kang D . Prevalence and epidemiologic characteristics of urolithiasis in Seoul, Korea. Urology. 2002; 59(4):517-21. DOI: 10.1016/s0090-4295(01)01606-5. View

17.

El-Tanani M, Charles Campbell F, Kurisetty V, Jin D, McCann M, Rudland P . The regulation and role of osteopontin in malignant transformation and cancer. Cytokine Growth Factor Rev. 2006; 17(6):463-74. DOI: 10.1016/j.cytogfr.2006.09.010. View

18.

Takaoka N, Takayama T, Miyazaki M, Nagata M, Ozono S . Modification of primers for GRHPR genotyping: avoiding allele dropout by single nucleotide polymorphisms and homology sequence. Urol Res. 2008; 36(6):297-302. DOI: 10.1007/s00240-008-0159-z. View

19.

Umekawa T . [Structural characteristics of osteopontin for calcium oxalate crystal]. Nihon Hinyokika Gakkai Zasshi. 1999; 90(3):436-44. DOI: 10.5980/jpnjurol1989.90.436. View

20.

Umekawa T, Yamate T, Amasaki N, Kohri K, Kurita T . Osteopontin mRNA in the kidney on an experimental rat model of renal stone formation without renal failure. Urol Int. 1995; 55(1):6-10. DOI: 10.1159/000282737. View