Top

Published in:

01-02-2014 | Original Paper

Vitamin D receptor gene (VDR) polymorphisms and the urolithiasis risk: an updated meta-analysis based on 20 case–control studies

Authors: Wentao Liu, Minfeng Chen, Mengjun Li, Hong Ma, Shiyu Tong, Ye Lei, Lin Qi

Published in: Urolithiasis | Issue 1/2014

Abstract

Vitamin D receptor (VDR) plays a key role in calcium metabolism, and is closely related to urinary stone formation (urolithiasis). Previous studies have investigated the associations between VDR single nucleotide polymorphisms (SNPs) (polymorphisms at BsmI, ApaI, FokI, or TaqI cutting sites) and urolithiasis in different populations. However, the results remain inconsistent and controversial. Therefore, meta-analysis was performed to evaluate these associations. Twenty studies that investigated the associations between VDR SNPs and urolithiasis were retrieved. Odds ratios (ORs) with 95 % confidence intervals (CIs) were calculated under the most appropriate genetic model. The TaqI polymorphism was associated with an increased risk of urolithiasis (tt + Tt vs. TT: OR = 1.253; 95 % CI = 1.033–1.520, p = 0.022, I ² = 0), whereas the ApaI, BsmI, and FokI polymorphisms were not. Stratifying for ethnicity, a slightly increased risk was found among Asians as compared to Whites (OR 1.263, 1.232, respectively, p < 0.01). Deviation from Hardy–Weinberg equilibrium (HWE) was the major source of heterogeneity. In summary, this updated meta-analysis suggests the TaqI polymorphism is associated with urolithiasis risk, whereas BsmI, ApaI, and FokI polymorphisms are not.

Available only for authorised users

Aji K, Song G, Yasen A, Azad B, Tursun H (2012) Association of vitamin D receptor gene polymorphisms with urolithiasis in Uyghur children from southern Xinjiang, China. Zhongguo dang dai er ke za zhi 14:956–959PubMed

Anderson RA (2002) A complementary approach to urolithiasis prevention. World J Urol 20:294–301PubMed

Arai H, Miyamoto KI, Taketani Y, Yamamoto H, Iemori Y, Morita K, Tonai T, Nishisho T, Mori S, Takeda E (1997) A vitamin D receptor gene polymorphism in the translation initiation codon: effect on protein activity and relation to bone mineral density in Japanese women. J Bone Miner Res 12:915–921PubMedCrossRef

Attia J, Thakkinstian A, D’Este C (2003) Meta-analyses of molecular association studies: methodologic lessons for genetic epidemiology. J Clin Epidemiol 56:297–303PubMedCrossRef

Basiri A, Shakhssalim N, Houshmand M, Kashi AH, Azadvari M, Golestan B, Pargoo EM, Pakmanesh H (2012) Coding region analysis of vitamin D receptor gene and its association with active calcium stone disease. Urol Res 40:35–40PubMedCrossRef

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

Bid HK, Kumar A, Kapoor R, Mittal RD (2005) Association of vitamin D receptor-gene (FokI) polymorphism with calcium oxalate nephrolithiasis. J Endourol 19:111–115PubMedCrossRef

Bland JM, Altman DG (1995) Multiple significance tests: the Bonferroni method BMJ. Br Med J 310:170CrossRef

Chen W-C, Chen H-Y, Hsu C-D, Wu J-Y, Tsai F-J (2001) No association of vitamin D receptor gene Bsm I polymorphisms with calcium oxalate stone formation. Mol Urol 5:7–10PubMedCrossRef

10.

Chen WC, Chen HY, Lu HF, Hsu CD, Tsai FJ (2001) Association of the vitamin D receptor gene start codon Fok I polymorphism with calcium oxalate stone disease. BJU Int 87:168–171PubMedCrossRef

11.

DerSimonian R, Laird N (1986) Meta-analysis in clinical trials. Control Clin Trials 7:177–188PubMedCrossRef

12.

Gao B, Yasui T, Okada A, Tozawa K, Hayashi Y, Kohri K (2005) A polymorphism of the osteopontin gene is related to urinary calcium stones. J Urol 174:1472–1476PubMedCrossRef

13.

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

14.

Goodman HO, Holmes RP, Assimos DG (1995) Genetic factors in calcium oxalate stone disease. J Urol 153:301–307PubMedCrossRef

15.

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

16.

Holick MF (1994) McCollum Award Lecture, 1994: vitamin D–new horizons for the 21st century. Am J Clin Nutr 60:619–630PubMed

17.

Hosking L, Lumsden S, Lewis K, Yeo A, McCarthy L, Bansal A, Riley J, Purvis I, Xu C-F (2004) Detection of genotyping errors by Hardy–Weinberg equilibrium testing. Eur J Hum Genet 12:395–399PubMedCrossRef

18.

Jackman SV, Kibel AS, Ovuworie CA, Moore RG, Kavoussi LR, Jarrett TW (1999) Familial calcium stone disease: Taq I polymorphism and the vitamin D receptor. J Endourol 13:313–316PubMedCrossRef

19.

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 86:249–255PubMedCrossRef

20.

Liu CC, Huang CH, Wu WJ, Huang SP, Chou YH, Li CC, Chai CY, Wu MT (2007) Association of vitamin D receptor (Fok-I) polymorphism with the clinical presentation of calcium urolithiasis. BJU Int 99:1534–1538PubMedCrossRef

21.

Mantel N, Haenszel W (2004) Statistical aspects of the analysis of data from retrospective studies of disease. Chall Epidemiol Issues Sel Read 1:533–553

22.

Mittal RD, Mishra D, Srivastava P, Manchanda P, Bid H, Kapoor R (2010) Polymorphisms in the vitamin D receptor and the androgen receptor gene associated with the risk of urolithiasis. Indian J Clin Biochem 25:119–126PubMedCentralPubMedCrossRef

23.

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 367:284–287PubMedCrossRef

24.

Mossetti G, Vuotto P, Rendina D, Numis F, 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 253:194–200PubMedCrossRef

25.

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

26.

Özkaya O, Söylemezoğlu O, Mısırlıoğlu M, Gönen S, Buyan N, Hasanoğlu E (2003) Polymorphisms in the vitamin D receptor gene and the risk of calcium nephrolithiasis in children. Eur Urol 44:150–154PubMedCrossRef

27.

Relan V, Khullar M, Singh S, Sharma S (2004) Association of vitamin D receptor genotypes with calcium excretion in nephrolithiatic subjects in northern India. Urol Res 32:236–240PubMedCrossRef

28.

Rendina D, Mossetti G, Viceconti R, Sorrentino M, Castaldo R, Manno G, Guadagno V, Strazzullo P, Nunziata V (2004) Association between vitamin D receptor gene polymorphisms and fasting idiopathic hypercalciuria in recurrent stone-forming patients. Urology 64:833–838PubMedCrossRef

29.

Roy C, Gies H, Toomey S (1995) The solar UV radiation environment: measurement techniques and results. J Photochem Photobiol B Biol 31:21–27CrossRef

30.

Ruggiero M, Pacini S, Amato M, Aterini S, Chiarugi V (1999) Association between vitamin D receptor gene polymorphism and nephrolithiasis. Miner Electrolyte Metab 25:185–190PubMedCrossRef

31.

Schaid DJ, Jacobsen SJ (1999) Blased Tests of Association: comparisons of allele frequencies when departing from Hardy-Weinberg proportions. Am J Epidemiol 149:706–711PubMedCrossRef

32.

Seo IY, Kang I-H, Chae S-C, Park SC, Lee Y-J, Yang YS, Ryu SB, Rim JS (2010) Vitamin D Receptor Gene AlwI FokI ApaI and TaqI polymorphisms in patients with urinary stone. Urology 75:923–927PubMedCrossRef

33.

Seyhan S, Yavascaoglu I, Kilicarslan H, Dogan HS, Kordan Y (2007) Association of vitamin D receptor gene Taq I polymorphism with recurrent urolithiasis in children. Int J Urol 14:1060–1062PubMedCrossRef

34.

Shaogang W, Jihong L, Shaoqun H, Zhangqun Y (2003) Association of vitamin D receptor gene polymorphisms with calcium oxalate calculus disease. J Huazhong Univ Sci Technol 23:38–41CrossRef

35.

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

36.

Snellman G, Melhus H, Gedeborg R, Olofsson S, Wolk A, Pedersen NL, Michaelsson K (2009) Seasonal genetic influence on serum 25-hydroxyvitamin D levels: a twin study. PLoS ONE 4:e7747PubMedCentralPubMedCrossRef

37.

Stamatelou KK, Francis ME, Jones CA, Nyberg LM, Curhan GC (2003) Time trends in reported prevalence of kidney stones in the United States: 1976–19941. Kidney Int 63:1817–1823PubMedCrossRef

38.

Thakkinstian A, McElduff P, D’Este C, Duffy D, Attia J (2005) A method for meta-analysis of molecular association studies. Stat Med 24:1291–1306PubMedCrossRef

39.

Thakkinstian A, McEvoy M, Minelli C, Gibson P, Hancox B, Duffy D, Thompson J, Hall I, Kaufman J, Leung TF, Helms PJ, Hakonarson H, Halpi E, Navon R, Attia J (2005) Systematic review and meta-analysis of the association between {beta}2-adrenoceptor polymorphisms and asthma: a HuGE review. Am J Epidemiol 162:201–211PubMedCrossRef

40.

Thorleifsson G, Holm H, Edvardsson V, Walters GB, Styrkarsdottir U, Gudbjartsson DF, Sulem P, Halldorsson BV, de Vegt F, d’Ancona FC, den Heijer M, Franzson L, Christiansen C, Alexandersen P, Rafnar T, Kristjansson K, Sigurdsson G, Kiemeney LA, Bodvarsson M, Indridason OS, Palsson R, Kong A, Thorsteinsdottir U, Stefansson K (2009) Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density. Nat Genet 41:926–930PubMedCrossRef

41.

Trikalinos TA, Salanti G, Khoury MJ, Ioannidis JP (2006) Impact of violations and deviations in Hardy-Weinberg equilibrium on postulated gene-disease associations. Am J Epidemiol 163:300–309PubMedCrossRef

42.

Urabe Y, Tanikawa C, Takahashi A, Okada Y, Morizono T, Tsunoda T, Kamatani N, Kohri K, Chayama K, Kubo M, Nakamura Y, Matsuda K (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:e1002541PubMedCentralPubMedCrossRef

43.

Vezzoli G, Terranegra A, Arcidiacono T, Gambaro G, Milanesi L, Mosca E, Soldati L (2010) Calcium kidney stones are associated with a haplotype of the calcium-sensing receptor gene regulatory region. Nephrol Dial Transplant 25:2245–2252PubMedCrossRef

44.

Wang S, Wang X, Wu J, Lin Y, Chen H, Zheng X, Zhou C, Xie L (2012) Association of vitamin D receptor gene polymorphism and calcium urolithiasis in the Chinese Han population. Urol Res 40:277–284PubMedCrossRef

45.

Whitehead A, Whitehead J (1991) A general parametric approach to the meta-analysis of randomized clinical trials. Stat Med 10:1665–1677PubMedCrossRef

Title: Vitamin D receptor gene (VDR) polymorphisms and the urolithiasis risk: an updated meta-analysis based on 20 case–control studies
Authors: Wentao Liu
Minfeng Chen
Mengjun Li
Hong Ma
Shiyu Tong
Ye Lei
Lin Qi
Publication date: 01-02-2014
Publisher: Springer Berlin Heidelberg
Published in: Urolithiasis / Issue 1/2014
Print ISSN: 2194-7228
Electronic ISSN: 2194-7236
DOI: https://doi.org/10.1007/s00240-013-0619-y

At a glance: The STEP trials

Springer Medicine

Vitamin D receptor gene (VDR) polymorphisms and the urolithiasis risk: an updated meta-analysis based on 20 case–control studies

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 1/2014

Patients with nephrolithiasis had lower fetuin-A protein level in urine and renal tissue

Health-related quality of life (HRQoL) in cystine compared with non-cystine stone formers

Is the supine position superior to the prone position for percutaneous nephrolithotomy (PCNL)?

Site of impaction of ureteric calculi requiring surgical intervention

Percutaneous nephrolithotomy for the treatment of radiolucent renal stones in children: is it different opaque stone treatment?

Current status of ureteroscopy for stone disease in pregnancy