Association Between Polymorphisms in Vitamin D Receptor Gene and Adolescent Idiopathic Scoliosis: a Meta-analysis

Overview

Journal Eur Spine J

Specialty Orthopedics

Date 2018 May 6

PMID 29728923

Citations 6

Authors

Jun Dai

Zheng-Tao Lv

Jun-Ming Huang

Peng Cheng

Huang Fang

An-Min Chen

Affiliations

Soon will be listed here.

Abstract

Purpose: This meta-analysis was performed to clarify whether the two single nucleotide polymorphisms (ApaI and BsmI) in vitamin D receptor (VDR) gene conferred susceptibility to adolescent idiopathic scoliosis (AIS).

Methods: A comprehensive literature search in five online databases (PubMed, EMBASE, ISI Web of Science, CNKI, and Wanfang) was performed to identify studies that analyzed the association between VDR gene polymorphisms and risk of AIS. Observational studies met the predetermined inclusion criteria were selected for meta-analysis. The most appropriate genetic model was identified using a genetic model-free approach. Meta-analysis was performed using RevMan 5.3 software.

Results: Five eligible studies were included in this meta-analysis, which involved a total of 717 cases and 554 controls. A statistically significant association was observed between BsmI polymorphism and AIS (OR 1.90, 95% CI 1.32, 2.62). In subgroup analysis by ethnicity, the association between BsmI polymorphism and AIS was significant in Asians (OR 2.06, 95% CI 1.56, 2.73) but not in Caucasians (OR 0.70, 95% CI 0.23, 2.19). However, the ApaI polymorphism was not associated with AIS. Moreover, no evidence of association between BMD and the two VDR gene polymorphisms was detected.

Conclusions: Meta-analysis of existing data suggested that BsmI was associated with increased risk of AIS in Asian populations. Nevertheless, further studies with rigorous design and more ethnic groups are encouraged to validate our findings. These slides can be retrieved under Electronic Supplementary Material.

Citing Articles

Association of IL‑6 and MMP‑3 gene polymorphisms with adolescent idiopathic scoliosis: A systematic review and meta‑analysis.

Wang Y, Qin S, Yang S, Xu Y, Han P, Liu A Exp Ther Med. 2024; 27(6):267.

PMID: 38756907 PMC: 11097290. DOI: 10.3892/etm.2024.12555.

Risk factors associated with low bone mineral density in children with idiopathic scoliosis: a scoping review.

Yang Y, Chen Z, Huang Z, Tao J, Li X, Zhou X BMC Musculoskelet Disord. 2023; 24(1):48.

PMID: 36670417 PMC: 9854192. DOI: 10.1186/s12891-023-06157-8.

Genetic variants associated with the occurrence and progression of adolescent idiopathic scoliosis: a systematic review protocol.

Terhune E, Heyn P, Piper C, Hadley-Miller N Syst Rev. 2022; 11(1):118.

PMID: 35681176 PMC: 9178937. DOI: 10.1186/s13643-022-01991-8.

Vitamin D receptor gene and polymorphisms and its association with inflammation and oxidative stress in vitamin D sufficient Caucasian Spanish children.

Ferrer-Suay S, Alonso-Iglesias E, Tortajada-Girbes M, Carrasco-Luna J, Codoner-Franch P Transl Pediatr. 2021; 10(1):103-111.

PMID: 33633942 PMC: 7882298. DOI: 10.21037/tp-20-198.

Association study of single nucleotide polymorphism in tryptophan hydroxylase 1 gene with adolescent idiopathic scoliosis: A meta-analysis.

Li J, Yang Z, Yu M Medicine (Baltimore). 2021; 100(3):e23733.

PMID: 33545939 PMC: 7837909. DOI: 10.1097/MD.0000000000023733.

References

Ralston S, de Crombrugghe B . Genetic regulation of bone mass and susceptibility to osteoporosis. Genes Dev. 2006; 20(18):2492-506. DOI: 10.1101/gad.1449506. View

Wang Y, Cui Z, Luo T, Liu L . Correlations of VDR and VDBP genetic polymorphisms with susceptibility to adolescent idiopathic scoliosis and efficacy of brace treatment. Genomics. 2016; 108(5-6):194-200. DOI: 10.1016/j.ygeno.2016.11.004. View

Miller N . Genetics of familial idiopathic scoliosis. Clin Orthop Relat Res. 2002; (401):60-4. DOI: 10.1097/00003086-200208000-00009. View

Chen W, Qiu Y, Zhu F, Zhu Z, Sun X, Liu Z . [Vitamin D receptor gene polymorphisms: no association with low bone mineral density in adolescent idiopathic scoliosis girls]. Zhonghua Wai Ke Za Zhi. 2008; 46(15):1183-6. View

Sandhu S, Hampson G . The pathogenesis, diagnosis, investigation and management of osteoporosis. J Clin Pathol. 2011; 64(12):1042-50. DOI: 10.1136/jcp.2010.077842. View

Christakos S, Dhawan P, Verstuyf A, Verlinden L, Carmeliet G . Vitamin D: Metabolism, Molecular Mechanism of Action, and Pleiotropic Effects. Physiol Rev. 2015; 96(1):365-408. PMC: 4839493. DOI: 10.1152/physrev.00014.2015. View

Weinstein S, Dolan L, Cheng J, Danielsson A, Morcuende J . Adolescent idiopathic scoliosis. Lancet. 2008; 371(9623):1527-37. DOI: 10.1016/S0140-6736(08)60658-3. View

Thakkinstian A, McElduff P, DEste C, Duffy D, Attia J . A method for meta-analysis of molecular association studies. Stat Med. 2004; 24(9):1291-306. DOI: 10.1002/sim.2010. View

Lewis C, Knight J . Introduction to genetic association studies. Cold Spring Harb Protoc. 2012; 2012(3):297-306. DOI: 10.1101/pdb.top068163. View

10.

Chen S, Zhao L, Roffey D, Phan P, Wai E . Association of rs11190870 near LBX1 with adolescent idiopathic scoliosis in East Asians: a systematic review and meta-analysis. Spine J. 2014; 14(12):2968-75. DOI: 10.1016/j.spinee.2014.05.019. View

11.

Cheng J, Qin L, Cheung C, SHER A, Lee K, Ng S . Generalized low areal and volumetric bone mineral density in adolescent idiopathic scoliosis. J Bone Miner Res. 2000; 15(8):1587-95. DOI: 10.1359/jbmr.2000.15.8.1587. View

12.

Ryan J, Anderson P, Turner A, Morris H . Vitamin D activities and metabolic bone disease. Clin Chim Acta. 2013; 425:148-52. DOI: 10.1016/j.cca.2013.07.024. View

13.

Xia C, Qiu Y, Sun X, Qiu X, Wang S, Zhu Z . [Vitamin D receptor gene polymorphisms in female adolescent idiopathic scoliosis patients]. Zhonghua Yi Xue Za Zhi. 2007; 87(21):1465-9. View

14.

Blomberg Jensen M, Dissing S . Non-genomic effects of vitamin D in human spermatozoa. Steroids. 2012; 77(10):903-9. DOI: 10.1016/j.steroids.2012.02.020. View

15.

Haussler M, Jurutka P, Mizwicki M, Norman A . Vitamin D receptor (VDR)-mediated actions of 1α,25(OH)₂vitamin D₃: genomic and non-genomic mechanisms. Best Pract Res Clin Endocrinol Metab. 2011; 25(4):543-59. DOI: 10.1016/j.beem.2011.05.010. View

16.

Grivas T, Vasiliadis E, Mouzakis V, Mihas C, Koufopoulos G . Association between adolescent idiopathic scoliosis prevalence and age at menarche in different geographic latitudes. Scoliosis. 2006; 1:9. PMC: 1501058. DOI: 10.1186/1748-7161-1-9. View

17.

Cheng J, Castelein R, Chu W, Danielsson A, Dobbs M, Grivas T . Adolescent idiopathic scoliosis. Nat Rev Dis Primers. 2016; 1:15030. DOI: 10.1038/nrdp.2015.30. View

18.

Ogilvie J . Adolescent idiopathic scoliosis and genetic testing. Curr Opin Pediatr. 2009; 22(1):67-70. DOI: 10.1097/MOP.0b013e32833419ac. View

19.

Saccone D, Asani F, Bornman L . Regulation of the vitamin D receptor gene by environment, genetics and epigenetics. Gene. 2015; 561(2):171-80. DOI: 10.1016/j.gene.2015.02.024. View

20.

Yilmaz H, Zateri C, Uludag A, Bakar C, Kosar S, Ozdemir O . Single-nucleotide polymorphism in Turkish patients with adolescent idiopathic scoliosis: curve progression is not related with MATN-1, LCT C/T-13910, and VDR BsmI. J Orthop Res. 2012; 30(9):1459-63. DOI: 10.1002/jor.22075. View