Association of collagen type I alpha1 Sp1 polymorphism with bone mineral density and fracture: a Meta-analysis of case-control studies

doi:10.3969/j.issn.2095-4344.2015.33.027

Abstract

Abstract:

BACKGROUND: Currently, there are large numbers of studies related to the association between collagen type I alpha1 (COL1A1) Sp1 polymorphism and bone mineral density and fracture risk, but the results are inconsistent.

OBJECTIVE: To evaluate the impact of the COL1A1 Sp1 polymorphism on bone mineral density and fracture by using the Meta-analysis.

METHODS: We comprehensively searched the eligible studies for the present meta-analysis through MEDLINE, PubMed, EMBASE databases. Pooled odds ratios and 95% confidence intervals of Sp1 polymorphisms for bone mineral density and fracture risk were obtained, with attention to study quality and publication bias.

RESULTS AND CONCLUSION: A total of 32 studies met the inclusion criteria, among which, 22 studies evaluated the Sp1 polymorphism and fracture risk. Significant associations were found in five genetic models. In the stratified analysis by region, the same results were found in the Europeans but not Americans and Asians. Thirteen studies evaluated the Sp1 polymorphism and low bone mineral density risk. A similar result was obtained. However, the analysis of bone mineral density data showed an increased relation between Sp1 polymorphism and low bone mineral density in Europeans and Americans but not in Asians. Overall, the current meta-analysis concludes that the COL1A1 Sp1 polymorphism is associated with low bone mineral density and fracture risk, especially in Europeans. However, susceptibility to them varies markedly among populations from different regions.

中国组织工程研究杂志出版内容重点：组织构建；骨细胞；软骨细胞；细胞培养；成纤维细胞；血管内皮细胞；骨质疏松；组织工程

Key words: Fractures, Bone, Collagen Type I, Bone Density, Meta-Analysis

CLC Number:

R318

Zong Qiang, Li Li-jun, Jiang Zhu-yan, Shi Yu-bo, Ni Dong-kui. Association of collagen type I alpha1 Sp1 polymorphism with bone mineral density and fracture: a Meta-analysis of case-control studies [J]. Chinese Journal of Tissue Engineering Research, 2015, 19(33): 5395-5401.

Figures/Tables 3

References

[1] Aerssens J, Dequeker J, Peeters J, et al. Polymorphisms of the VDR, ER and COLIA1 genes and osteoporotic hip fracture in elderly postmenopausal women. Osteoporos Int. 2000;11: 583-591.
[2] Alvarez L, Oriola J, Jo J, et al. Collagen type I alpha1 gene Sp1 polymorphism in premenopausal women with primary osteoporosis: improved detection of Sp1 binding site polymorphism in the collagen type 1 gene. Clin Chem. 1999;45:904-906.
[3] Beavan S, Prentice A, Dibba B, et al. Polymorphism of the collagen type Iα1 gene and ethnic differences in hip-fracture rates. New Eng J Med. 1998;339:351-352.
[4] Begg CB, Mazumdar M. Operating characteristics of a rank correlation test for publication bias. Biometrics. 1994;50: 1088-1101.
[5] Berman NG, Parker RA. Meta-analysis: neither quick nor easy. BMC Med Res Method. 2002;2:10.
[6] Bernad M, Martinez ME, Escalona M, et al. Polymorphism in the type I collagen (COLIA1) gene and risk of fractures in postmenopausal women. Bone. 2002;30:223-228.
[7] Blades H, Arundel P, Carlino W, et al. Collagen gene polymorphisms influence fracture risk and bone mass acquisition during childhood and adolescent growth. Bone. 2010;47:989-994.
[8] Breuil V, Quincey D, Testa J, et al. Gene polymorphisms and osteoporotic fractures: A study in postmenopausal French women. Joint Bone Spine. 2009;76:317-319.
[9] Cummings SR, Kelsey JL, Nevitt MC, et al. Epidemiology of osteoporosis and osteoporotic fractures. Epidemiol Reviews. 1985;7:178-208.
[10] Cummings SR, Melton LJ. Epidemiology and outcomes of osteoporotic fractures. Lancet. 2002;359:1761-1767.
[11] DerSimonian R, Laird N. Meta-analysis in clinical trials. Controll Clini Trials. 1986;7:177-188.
[12] Dinçel E, Sepici-Dinçel A, Sepici V, et al. Hip fracture risk and different gene polymorphisms in the Turkish population. Clinics. 2008;63:645-650.
[13] Efesoy A, yilmaz Ö, Erden G, et al. Relationship of the Vitamin D receptor and collagen Iα1 gene polymorphisms with low bone mineral density and vertebral fractures in postmenopausal Turkish women. Turk J Rheumatol. 2011;26:295-302.
[14] Egger M, Smith GD, Schneider M, et al. Bias in meta-analysis detected by a simple, graphical test. BMJ. 1997;315:629-634.
[15] Erduran M, Altinisik J, Meric G, et al. Is Sp1 binding site polymorphism within COL1A1 gene associated with tennis elbow? Gene. 2014;537:308-311.
[16] Ertugay OC, Ata P, Kalaycik Ertugay C, et al. Association of COL1A1 polymorphism in Turkish patients with otosclerosis. Am J Otolaryngol. 2013;34:403-406.
[17] Falcón-Ramírez E, Casas-Avila L, Miranda A, et al. Sp1 polymorphism in collagen I α1 gene is associated with osteoporosis in lumbar spine of Mexican women. Mol Biol Respectfully yours,eports. 2011;38:2987-2992.
[18] Gerdhem P, Brändström H, Stiger F, et al. Association of the collagen type 1 (COL1A 1) Sp1 binding site polymorphism to femoral neck bone mineral density and wrist fracture in 1044 elderly Swedish women. Calcif Tissue Int. 2004;74:264-269.
[19] Grant SF, Reid DM, Blake G, et al. Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene. Nat Genet. 1996;14:203-205.
[20] Han KO, Moon IG, Hwang CS, et al. Lack of an intronic Sp1 binding-site polymorphism at the collagen type I alpha1 gene in healthy Korean women. Bone. 1999;24:135-137.
[21] He M, Wang Z, Zhao J, et al. COL1A1 polymorphism is associated with risks of osteosarcoma susceptibility and death. Tumour Biol. 2014;35:1297-1305.
[22] Higgins JP, Thompson SG. Quantifying heterogeneity in a meta-analysis. Stat Med. 2002;21:1539-1558.
[23] Hosoi T. Genetic aspects of osteoporosis. J Bone Miner Metab. 2010;28:601-607.
[24] Hubacek J, Weichetova M, Bohuslavova R, et al. No associations between genetic polymorphisms of TGF-beta, PAI-1, and COL1A1, and bone mineral density in Caucasian females. End Regulati. 2006;40:107-112.
[25] Husted L, Harsløf T, Gonzalez-Bofill N, et al. Haplotypes of promoter and intron 1 polymorphisms in the COLIA1 gene are associated with increased risk of osteoporosis. Calcified tissue international. 2009;84:85-96.
[26] Hustmyer FG, Liu G, Johnston CC, et al. Polymorphism at an Sp1 binding site of COL1A1 and bone mineral density in premenopausal female twins and elderly fracture patients. Osteop Int. 1999;9:346-350.
[27] Ivanova JT, Boyanov MA, Toshev AK, et al. Association of Sp1 Collagen Type Iα1 Gene Polymorphisms with Bone Mineral Density in Bulgarian Women Referred for Bone Densitometry. Turk J Endocrinol Metab. 2011:15.
[28] Jin H, Evangelou E, Ioannidis JP, et al. Polymorphisms in the 5' flank of COL1A1 gene and osteoporosis: meta-analysis of published studies. Osteoporos Int. 2011; 22:911-921.
[29] Jin H, Stewart TL, Van't Hof R, et al. A rare haplotype in the upstream regulatory region of COL1A1 is associated with reduced bone quality and hip fracture. J Bone Min Res. 2009; 24:448-454.
[30] Kanis JA, Melton LJ, 3rd, Christiansen C, et al. The diagnosis of osteoporosis. J Bone Miner Res. 1994;9:1137-1141.
[31] Keen RW, Woodford-Richens KL, Grant SF, et al. Association of polymorphism at the type I collagen (COL1A1) locus with reduced bone mineral density, increased fracture risk, and increased collagen turnover. Arthritis Rheum. 1999;42: 285-290.
[32] Lambrinoudaki I, Kung AW. Absence of high-risk “s” allele associated with osteoporosis at the intronic SP1 binding-site of collagen Iα1 gene in Southern Chinese. J Endocrinol Invest. 2001;24:499-502.
[33] Langdahl BL, Ralston SH, Grant SF, et al. An Sp1 binding site polymorphism in the COLIA1 gene predicts osteoporotic fractures in both men and women. J Bone Miner Res. 1998; 13:1384-1389.
[34] Lau J, Ioannidis JP, Schmid CH. Quantitative synthesis in systematic reviews. Ann Int Med. 1997;127:820-826.
[35] Lei MM, Yang TF, Tu ZQ, et al. Oestrogen receptor-alpha polymorphism and risk of fracture: a meta-analysis of 13 studies including 1279 cases and 6069 controls. J Int Med Res. 2010;38:1575-1583.
[36] Liden M, Wilen B, Ljunghall S, et al. Polymorphism at the Sp 1 binding site in the collagen type I alpha 1 gene does not predict bone mineral density in postmenopausal women in sweden. Calcif Tissue Int. 1998;63:293-295.
[37] Mann V, Hobson EE, Li B, et al. A COL1A1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality. J Clin Invest. 2001;107: 899-907.
[38] Mann V, Ralston SH. Meta-analysis of COL1A1 Sp1 polymorphism in relation to bone mineral density and osteoporotic fracture. Bone. 2003;32:711-717.
[39] Mantel N, Haenszel W. Statistical aspects of the analysis of data from retrospective studies of disease. J Natl Cancer Inst. 1959;22:719-748.
[40] Marozik P, Mosse I, Alekna V, et al. Association Between Polymorphisms of VDR, COL1A1, and LCT genes and bone mineral density in Belarusian women with severe postmenopausal osteoporosis. Medicina (Kaunas). 2013; 49:177-184.
[41] McGuigan FE, Reid DM, Ralston SH. Susceptibility to osteoporotic fracture is determined by allelic variation at the Sp1 site, rather than other polymorphic sites at the COL1A1 locus. Osteoporos Int. 2000;11:338-343.
[42] Mezquita-Raya P, Munoz-Torres M, de Dios Luna J, et al. Performance of COLIA1 polymorphism and bone turnover markers to identify postmenopausal women with prevalent vertebral fractures. Osteoporos Int. 2002;13:506-512.
[43] Moskalenko M, Aseev M, Zazerskaya I, et al. Analysis of Association of the Col1a1 Gene Alleles with the Risk of Osteoporosis. Russ J Genet. 2002;38:1443-1446.
[44] Musumeci M, Vadalà G, Tringali G, et al. Genetic and environmental factors in human osteoporosis from Sub-Saharan to Mediterranean areas. J Bone Miner Metab. 2009;27:424-434.
[45] Peris P, Alvarez L, Oriola J, et al. Collagen type Ialpha1 gene polymorphism in idiopathic osteoporosis in men. Rheumatology (Oxford). 2000;39:1222-1225.
[46] Qin G, Dong Z, Zeng P, et al. Association of vitamin D receptor BsmI gene polymorphism with risk of osteoporosis: a meta-analysis of 41 studies. Mol Biol Rep. 2013;40:497-506.
[47] Ralston SH, Uitterlinden AG, Brandi ML, et al. Large-scale evidence for the effect of the COLIA1 Sp1 polymorphism on osteoporosis outcomes: the GENOMOS study. PLoS Med. 2006;3:e90.

[48] Rodrigues AM, Girao MJ, da Silva ID, et al. COL1A1 Sp1-binding site polymorphism as a risk factor for genital prolapse. Int Urogynecol J Pelvic Floor Dysfunct. 2008;19: 1471-1475.
[49] Roux C, Dougados M, Abel L, et al. Association of a polymorphism in the collagen I alpha1 gene with osteoporosis in French women. Arthritis Rheum. 1998;41:187-188.
[50] Selezneva L, Khusainova R, Nurligayanov R, et al. Association of polymorphisms and haplotypes in the 5′ region of COLIA1 gene with the risk of osteoporotic fractures in Russian women from Volga-Ural region. Russ J Genet. 2008; 44:180-186.
[51] Stewart T, Roschger P, Misof B, et al. Association of COL IA1 Sp1 alleles with defective bone nodule formation in vitro and abnormal bone mineralization in vivo. Calcif Tissue Int. 2005; 77:113-118.
[52] Stewart TL, Ralston SH. Role of genetic factors in the pathogenesis of osteoporosis. J Endocrinol. 2000;166:235- 245.
[53] Svedbom A, Ivergard M, Hernlund E, et al. Epidemiology and economic burden of osteoporosis in Switzerland. Arch Osteoporos. 2014;9:187.
[54] Tural S, Kara N, Alayli G, et al. Association between osteoporosis and polymorphisms of the bone Gla protein, estrogen receptor 1, collagen 1-A1 and calcitonin receptor genes in Turkish postmenopausal women. Gene. 2013;515: 167-172.
[55] Uitterlinden AG, Burger H, Huang Q, et al. Relation of alleles of the collagen type Ialpha1 gene to bone density and the risk of osteoporotic fractures in postmenopausal women. N Engl J Med. 1998;338:1016-1021.
[56] Urreizti R, Garcia-Giralt N, Riancho JA, et al. COL1A1 haplotypes and hip fracture. J Bone Miner Res. 2012;27: 950-953.
[57] Urreizti R, Garcia-Giralt N, Riancho JA, et al. COL1A1 haplotypes and hip fracture. J Bone Miner Res. 2012;27: 950-953.
[58] Valimaki S, Tahtela R, Kainulainen K, et al. Relation of collagen type I alpha 1 (COLIA 1) and vitamin D receptor genotypes to bone mass, turnover, and fractures in early postmenopausal women and to hip fractures in elderly people. Eur J Intern Med. 2001;12:48-56.
[59] Vidal C, Brincat M, Xuereb-Anastasi A. Effects of SNPs in the Col1a1 and Methylenetetrahydrofolate Reductase Genes on BMD in Postmenopausal Women in Malta. Balk J Med Genet. 2007;10:9-18.
[60] Weichetova M, Stepan J, Haas T, et al. The risk of Colles’ fracture is associated with the collagen I alpha1 Sp1 polymorphism and ultrasound transmission velocity in the calcaneus only in heavier postmenopausal women. Calcif Tissue Int. 2005;76:98-106.
[61] Weichetova M, Stepan JJ, Michalska D, et al. COLIA1 polymorphism contributes to bone mineral density to assess prevalent wrist fractures. Bone. 2000;26:287-290.
[62] Zhao L, Tian W, Pan H, et al. Variations of the COL1A1 gene promoter and the relation to developmental dysplasia of the hip. Genet Test Mol Biomarkers. 2013;17:840-843.