nach oben

Urolithiasis

Erschienen in:

01.08.2012 | Original Paper

Association of vitamin D receptor gene polymorphism and calcium urolithiasis in the Chinese Han population

verfasst von: Shuai Wang, Xiao Wang, Jian Wu, Yiwei Lin, Hong Chen, Xiangyi Zheng, Cheng Zhou, Liping Xie

Erschienen in: Urolithiasis | Ausgabe 4/2012

Einloggen, um Zugang zu erhalten

Abstract

To investigate the effect of the vitamin D receptor (VDR) Fok I Bsm I Dde I Apa I Taq I polymorphism on the clinical presentation of calcium urolithiasis, 464 patients with urolithiasis and 450 age- and sex-matched healthy controls were recruited from The First Affiliated Hospital of Zhejiang University between January 2010 and March 2011. Five SNPs of VDR polymorphism were detected using polymerase chain reaction-based restriction analysis. The frequency of VDR Apa I genotypes between the patients and the healthy controls was significantly different (P = 0.006). Apa I a allele was found to be associated with increased risk of stone recurrence (P = 0.028). We also found Fok I Dde I Apa I showed a significant difference between male and female in the patients group (P < 0.05). Haplotype analysis of the five VDR polymorphisms showed a significant association with urolithiasis (global-P value = 0.0001). Genetic polymorphisms of VDR are important in the clinical presentation of patients with calcium urolithiasis in the Han population of southern China.

Lee YH, Huang WC, Tsai JY, Lu CM, Chen WC, Lee MH, Hsu HS, Huang JK, Chang LS (2002) Epidemiological studies on the prevalence of upper urinary calculi in Taiwan. Urol Int 68(3):172–177. pii: 48445PubMedCrossRef

Worcester EM, Coe FL (2010) Clinical practice. Calcium kidney stones. N Engl J Med 363(10):954–963. doi:10.1056/NEJMcp1001011 PubMedCrossRef

Valdivielso JM, Fernandez E (2006) Vitamin D receptor polymorphisms and diseases. Clin Chim Acta 371(1–2):1–12PubMedCrossRef

Curhan GC, Willett WC, Rimm EB, Stampfer MJ (1997) Family history and risk of kidney stones. J Am Soc Nephrol 8(10):1568–1573PubMed

Coe FL, Parks JH, Asplin JR (1992) Medical Progress—the pathogenesis and treatment of kidney-stones. New Engl J Med 327(16):1141–1152PubMedCrossRef

Gornes SA, dos Reis LM, Noronha IL, Jorgetti V, Heilberg IP (2008) RANKL is a mediator of bone resorption in idiopathic hypercalciuria. Clin J Am Soc Nephrol 3(5):1446–1452. doi:10.2215/Cjn.00240108 CrossRef

Tiselius HG, Hojgaard I (1999) Some aspects of the intratubular precipitation of calcium salts. J Am Soc Nephrol 10:S371–S375PubMed

Li XQ, Tembe V, Horwitz GM, Bushinsky DA, Favus MJ (1993) Increased intestinal vitamin-D receptor in genetic hypercalciuric rats—a cause of intestinal calcium hyperabsorption. J Clin Invest 91(2):661–667PubMedCrossRef

Krieger NS, Stathopoulos VM, Bushinsky DA (1996) Increased sensitivity to 1, 25(OH)2D3 in bone from genetic hypercalciuric rats. Am J Physiol 271(1 Pt 1):C130–C135PubMed

10.

Lin Y, Mao Q, Zheng X, Chen H, Yang K, Xie L (2011) Vitamin D receptor genetic polymorphisms and the risk of urolithiasis: a meta-analysis. Urol Int 86(3):249–255. doi:10.1159/000323949 PubMedCrossRef

11.

Manolio TA, Collins FS (2009) The HapMap and genome-wide association studies in diagnosis and therapy. Annu Rev Med 60:443–456. doi:10.1146/annurev.med.60.061907.093117 PubMedCrossRef

12.

Nakamura Y (2009) DNA variations in human and medical genetics: 25 years of my experience. J Hum Genet 54(1):1–8. doi:10.1038/jhg.2008.6 PubMedCrossRef

13.

Gross C, Krishnan AV, Malloy PJ, Eccleshall TR, Zhao XY, Feldman D (1998) The vitamin D receptor gene start codon polymorphism: a functional analysis of Fok I variants. J Bone Miner Res 13(11):1691–1699. doi:10.1359/jbmr.1998.13.11.1691 PubMedCrossRef

14.

Morrison NA, Qi JC, Tokita A, Kelly PJ, Crofts L, Nguyen TV, Sambrook PN, Eisman JA (1994) Prediction of bone-density from Vitamin-D receptor alleles. Nature 367(6460):284–287PubMedCrossRef

15.

Whitfield GK, Remus LS, Jurutka PW, Zitzer H, Oza AK, Dang HT, Haussler CA, Galligan MA, Thatcher ML, Encinas Dominguez C, Haussler MR (2001) Functionally relevant polymorphisms in the human nuclear vitamin D receptor gene. Mol Cell Endocrinol 177(1–2):145–159 (pii: S0303720701004063)PubMedCrossRef

16.

Miyamoto K, Kesterson RA, Yamamoto H, Taketani Y, Nishiwaki E, Tatsumi S, Inoue Y, Morita K, Takeda E, Pike JW (1997) Structural organization of the human vitamin D receptor chromosomal gene and its promoter. Mol Endocrinol 11(8):1165–1179PubMedCrossRef

17.

Shi YY, He L (2005) SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci. Cell Res 15(2):97–98PubMedCrossRef

18.

Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21(2):263–265PubMedCrossRef

19.

Bid HK, Chaudhary H, Mittal RD (2005) Association of vitamin-D and calcitonin receptor gene polymorphism in paediatric nephrolithiasis. Pediatr Nephrol 20(6):773–776. doi:10.1007/s00467-005-1846-4 PubMedCrossRef

20.

Bid HK, Kumar A, Kapoor R, Mittal RD (2005) Association of vitamin D receptor-gene (Fok I) polymorphism with calcium oxalate nephrolithiasis. J Endourol 19(1):111–115. doi:10.1089/end.2005.19.111 PubMedCrossRef

21.

Ferreira LG, Pereira AC, Heilberg IP (2010) Vitamin D receptor and calcium-sensing receptor gene polymorphisms in hypercalciuric stone-forming patients. Nephron Clin Pract 114(2):c135–c144. doi:10.1159/000254386 PubMedCrossRef

22.

Gunes S, Bilen CY, Kara N, Asci R, Bagci H, Yilmaz AF (2006) Vitamin D receptor gene polymorphisms in patients with urolithiasis. Urol Res 34(1):47–52. doi:10.1007/s00240-005-0033-1 PubMedCrossRef

23.

Mittal RD MD, Srivastava P (2010) Polymorphisms in the vitamin D receptor and the androgen receptor gene associated with the risk of urolithiasis. Indian J Clin Biochem 25

24.

Mossetti G, Vuotto P, Rendina D, Numis FG, Viceconti R, Giordano F, Cioffi M, Scopacasa F, Nunziata V (2003) Association between vitamin D receptor gene polymorphisms and tubular citrate handling in calcium nephrolithiasis. J Intern Med 253(2):194–200PubMedCrossRef

25.

Nishijima S, Sugaya K, Naito A, Morozumi M, Hatano T, Ogawa Y (2002) Association of vitamin D receptor gene polymorphism with urolithiasis. J Urology 167(5):2188–2191CrossRef

26.

Seo IY, Kang IH, Chae SC, Park SC, Lee YJ, Yang YS, Ryu SB, Rim JS (2010) Vitamin D receptor gene Alw I, Fok I, Apa I, and Taq I polymorphisms in patients with urinary stone. Urology 75(4):923–927. doi:10.1016/j.urology.2009.10.006 PubMedCrossRef

27.

Vezzoli G, Soldati L, Proverbio MC, Adamo D, Rubinacci A, Bianchi G, Mora S (2002) Polymorphism of vitamin D receptor gene start codon in patients with calcium kidney stones. J Nephrol 15(2):158–164PubMed

28.

Zhu CX, Ye ZQ, Chen ZQ, Xia D, Hu J (2010) Association between Vitamin D receptor gene polymorphisms and idiopathic hypocitraturia in the Chinese population. Urol Int 85(1):100–105PubMedCrossRef

29.

Evans RM (1988) The steroid and thyroid-hormone receptor superfamily. Science 240(4854):889–895PubMedCrossRef

30.

Haussler MR, Whitfield GK, Haussler CA, Hsieh JC, Thompson PD, Selznick SH, Dominguez CE, Jurutka PW (1998) The nuclear vitamin D receptor: biological and molecular regulatory properties revealed. J Bone Miner Res 13(3):325–349PubMedCrossRef

31.

Jones G, Strugnell SA, DeLuca HF (1998) Current understanding of the molecular actions of vitamin D. Physiol Rev 78(4):1193–1231PubMed

32.

Simpson DP (1983) Citrate excretion—a window on renal metabolism. Am J Physiol 244(3):F223–F234PubMed

33.

Chen WC, Chen HY, Hsu CD, Wu JY, Tsai FJ (2001) No association of vitamin D receptor gene BsmI polymorphisms with calcium oxalate stone formation. Mol Urol 5(1):7–10PubMedCrossRef

34.

Holt SK, Kwon EM, Koopmeiners JS, Lin DW, Feng Z, Ostrander EA, Peters U, Stanford JL (2010) Vitamin D pathway gene variants and prostate cancer prognosis. Prostate 70(13):1448–1460. doi:10.1002/pros.21180 PubMedCrossRef

Titel: Association of vitamin D receptor gene polymorphism and calcium urolithiasis in the Chinese Han population
verfasst von: Shuai Wang
Xiao Wang
Jian Wu
Yiwei Lin
Hong Chen
Xiangyi Zheng
Cheng Zhou
Liping Xie
Publikationsdatum: 01.08.2012
Verlag: Springer-Verlag
Erschienen in: Urolithiasis / Ausgabe 4/2012
Print ISSN: 2194-7228
Elektronische ISSN: 2194-7236
DOI: https://doi.org/10.1007/s00240-011-0438-y

Neu im Fachgebiet Urologie

19.04.2024 | EAU 2024 | Kongressbericht | Nachrichten

Update Urologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen

Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

Springer Medizin

Association of vitamin D receptor gene polymorphism and calcium urolithiasis in the Chinese Han population

Abstract

Neu im Fachgebiet Urologie

Varikozelen bei Jugendlichen: Das Für und Wider der Operation

Ureterstriktur: Innovative OP-Technik bewährt sich

Prostatakarzinom: EU initiiert neues Screeningkonzept

Blasenkarzinom – Biomarker statt Zytologie?

Update Urologie

Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 4/2012

Selective Rac1 inhibition protects renal tubular epithelial cells from oxalate-induced NADPH oxidase-mediated oxidative cell injury

Feasibility and efficacy of extracorporeal shock-wave lithotripsy using a new modified lateral position for the treatment of renal stones in obese patients

Treatment of forgotten ureteral stents: how much does it really cost? A cost-effectiveness study in 27 patients

Erratum to: A multicenter case–control study of diagnostic tests for urinary tract infection in the presence of urolithiasis

Bladder stone due to accidentally intravesically inserted intrauterine device

Stereotactic localisation system: a modified puncture technique for percutaneous nephrolithotomy

Neu im Fachgebiet Urologie

Varikozelen bei Jugendlichen: Das Für und Wider der Operation

Ureterstriktur: Innovative OP-Technik bewährt sich

Prostatakarzinom: EU initiiert neues Screeningkonzept

Blasenkarzinom – Biomarker statt Zytologie?

Update Urologie