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Urolithiasis
Published in: Urolithiasis 4/2012

01-08-2012 | Original Paper

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

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

Published in: Urolithiasis | Issue 4/2012

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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.
Literature
1.
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
2.
3.
Valdivielso JM, Fernandez E (2006) Vitamin D receptor polymorphisms and diseases. Clin Chim Acta 371(1–2):1–12PubMedCrossRef
4.
Curhan GC, Willett WC, Rimm EB, Stampfer MJ (1997) Family history and risk of kidney stones. J Am Soc Nephrol 8(10):1568–1573PubMed
5.
Coe FL, Parks JH, Asplin JR (1992) Medical Progress—the pathogenesis and treatment of kidney-stones. New Engl J Med 327(16):1141–1152PubMedCrossRef
6.
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
7.
Tiselius HG, Hojgaard I (1999) Some aspects of the intratubular precipitation of calcium salts. J Am Soc Nephrol 10:S371–S375PubMed
8.
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
9.
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.
11.
12.
13.
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.
20.
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.
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.
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.
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
Metadata
Title
Association of vitamin D receptor gene polymorphism and calcium urolithiasis in the Chinese Han population
Authors
Shuai Wang
Xiao Wang
Jian Wu
Yiwei Lin
Hong Chen
Xiangyi Zheng
Cheng Zhou
Liping Xie
Publication date
01-08-2012
Publisher
Springer-Verlag
Published in
Urolithiasis / Issue 4/2012
Print ISSN: 2194-7228
Electronic ISSN: 2194-7236
DOI
https://doi.org/10.1007/s00240-011-0438-y

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