Susceptibility genes for osteoporotic fracture in postmenopausal chinese women

Journal of Bone and Mineral Research

Volumn 27, Issue 12, 2012, Pages 2582-2591

  Wang, Chun ^a   Zhang, Zeng ^a   Zhang, Hao ^a   He, Jin Wei ^a   Gu, Jie Mei ^a   Hu, Wei Wei ^a   Hu, Yun Qiu ^a   Li, Miao ^a   Liu, Yu Juan ^a   Fu, Wen Zhen ^a   Yue, Hua ^a   Ke, Yao Hua ^a   Zhang, Zhen Lin ^a  

^a SHANGHAI JIAO TONG UNIVERSITY AFFILIATED SIXTH PEOPLE S HOSPITAL   (China)

Author keywords

FRACTURE; OSTEOPOROSIS; POSTMENOPAUSAL; SUSCEPTIBILITY GENE

Indexed keywords

CANNABINOID 2 RECEPTOR; ESTROGEN RECEPTOR ALPHA; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN 4; OSTEOPONTIN; OSTEOPROTEGERIN; SPECTRIN; SPECTRIN BETA NON ERYTHROCYTIC 1; UNCLASSIFIED DRUG;

ARTICLE; CHINESE; CONTROLLED STUDY; FEMALE; FRAGILITY FRACTURE; GENE LOCUS; GENETIC SUSCEPTIBILITY; GENOME ANALYSIS; GENOTYPE; HAPLOTYPE; HIP FRACTURE; HUMAN; MAJOR CLINICAL STUDY; POSTMENOPAUSE OSTEOPOROSIS; RADIUS FRACTURE; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; SPINE FRACTURE;

AGED; ASIAN CONTINENTAL ANCESTRY GROUP; BONE DENSITY; CASE-CONTROL STUDIES; ESTROGEN RECEPTOR ALPHA; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HIP FRACTURES; HUMANS; LDL-RECEPTOR RELATED PROTEINS; MIDDLE AGED; OSTEOPOROTIC FRACTURES; OSTEOPROTEGERIN; POLYMORPHISM, SINGLE NUCLEOTIDE; POSTMENOPAUSE; SPECTRIN;

EID: 84869472000     PISSN: 08840431     EISSN: 15234681     Source Type: Journal    
DOI: 10.1002/jbmr.1711     Document Type: Article

References (50)

1. Ferrari S., Human genetics of osteoporosis. Best Pract Res Clin Endocrinol Metab. 2008; 22: 723-35.
2. Kanis JA, Burlet N, Cooper C, Delmas PD, Reginster JY, Borgstrom F, Rizzoli R., European guidance for the diagnosis and management of osteoporosis in postmenopausal women. Osteoporos Int. 2008; 19: 399-428.
3. Deng HW, Chen WM, Recker S, Stegman MR, Li JL, Davies KM, Zhou Y, Deng H, Heaney R, Recker RR., Genetic determination of Colles' fracture and differential bone mass in women with and without Colles' fracture. J Bone Miner Res. 2000; 15: 1243-52.
4. Michaelsson K, Melhus H, Ferm H, Ahlbom A, Pedersen NL., Genetic liability to fractures in the elderly. Arch Intern Med. 2005; 165: 1825-30.
5. Styrkarsdottir U, Halldorsson BV, Gretarsdottir S, Gudbjartsson DF, Walters GB, Ingvarsson T, Jonsdottir T, Saemundsdottir J, Center JR, Nguyen TV, Bagger Y, Gulcher JR, Eisman JA, Christiansen C, Sigurdsson G, Kong A, Thorsteinsdottir U, Stefansson K., Multiple genetic loci for bone mineral density and fractures. N Engl J Med. 2008; 358: 2355-65.
6. Richards JB, Rivadeneira F, Inouye M, Pastinen TM, Soranzo N, Wilson SG, Andrew T, Falchi M, Gwilliam R, Ahmadi KR, Valdes AM, Arp P, Whittaker P, Verlaan DJ, Jhamai M, Kumanduri V, Moorhouse M, van Meurs JB, Hofman A, Pols HA, Hart D, Zhai G, Kato BS, Mullin BH, Zhang F, Deloukas P, Uitterlinden AG, Spector TD., Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study. Lancet. 2008; 371: 1505-12.
7. Rivadeneira F, Styrkarsdottir U, Estrada K, Halldorsson BV, Hsu YH, Richards JB, Zillikens MC, Kavvoura FK, Amin N, Aulchenko YS, Cupples LA, Deloukas P, Demissie S, Grundberg E, Hofman A, Kong A, Karasik D, van Meurs JB, Oostra B, Pastinen T, Pols HA, Sigurdsson G, Soranzo N, Thorleifsson G, Thorsteinsdottir U, Williams FM, Wilson SG, Zhou Y, Ralston SH, van Duijn CM, Spector T, Kiel DP, Stefansson K, Ioannidis JP, Uitterlinden AG., Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. Nat Genet. 2009; 41: 1199-206.
8. Richards JB, Kavvoura FK, Rivadeneira F, Styrkarsdottir U, Estrada K, Halldorsson BV, Hsu YH, Zillikens MC, Wilson SG, Mullin BH, Amin N, Aulchenko YS, Cupples LA, Deloukas P, Demissie S, Hofman A, Kong A, Karasik D, van Meurs JB, Oostra BA, Pols HA, Sigurdsson G, Thorsteinsdottir U, Soranzo N, Williams FM, Zhou Y, Ralston SH, Thorleifsson G, van Duijn CM, Kiel DP, Stefansson K, Uitterlinden AG, Ioannidis JP, Spector TD., Collaborative meta-analysis: associations of 150 candidate genes with osteoporosis and osteoporotic fracture. Ann Intern Med. 2009; 151: 528-37.
9. Styrkarsdottir U, Halldorsson BV, Gretarsdottir S, Gudbjartsson DF, Walters GB, Ingvarsson T, Jonsdottir T, Saemundsdottir J, Snorradottir S, Center JR, Nguyen TV, Alexandersen P, Gulcher JR, Eisman JA, Christiansen C, Sigurdsson G, Kong A, Thorsteinsdottir U, Stefansson K., New sequence variants associated with bone mineral density. Nat Genet. 2009; 41: 15-7.
10. Styrkarsdottir U, Halldorsson BV, Gudbjartsson DF, Tang NL, Koh JM, Xiao SM, Kwok TC, Kim GS, Chan JC, Cherny S, Lee SH, Kwok A, Ho S, Gretarsdottir S, Kostic JP, Palsson ST, Sigurdsson G, Sham PC, Kim BJ, Kung AW, Kim SY, Woo J, Leung PC, Kong A, Thorsteinsdottir U, Stefansson K., European bone mineral density loci are also associated with BMD in East-Asian populations. PLoS One. 2010; 5: e13217.
11. van Meurs JB, Trikalinos TA, Ralston SH, Balcells S, Brandi ML, Brixen K, Kiel DP, Langdahl BL, Lips P, Ljunggren O, Lorenc R, Obermayer-Pietsch B, Ohlsson C, Pettersson U, Reid DM, Rousseau F, Scollen S, Van Hul W, Agueda L, Akesson K, Benevolenskaya LI, Ferrari SL, Hallmans G, Hofman A, Husted LB, Kruk M, Kaptoge S, Karasik D, Karlsson MK, Lorentzon M, Masi L, McGuigan FE, Mellstrom D, Mosekilde L, Nogues X, Pols HA, Reeve J, Renner W, Rivadeneira F, van Schoor NM, Weber K, Ioannidis JP, Uitterlinden AG., Large-scale analysis of association between LRP5 and LRP6 variants and osteoporosis. Jama. 2008; 299: 1277-90.
12. Liu JM, Zhang MJ, Zhao L, Cui B, Li ZB, Zhao HY, Sun LH, Tao B., Li M. Ning G. 2010; Analysis of recently identified osteoporosis susceptibility genes in Han Chinese women. J Clin Endocrinol Metab 95: E112-120.
13. Beyens G, Daroszewska A, de Freitas F, Fransen E, Vanhoenacker F, Verbruggen L, Zmierczak HG, Westhovens R, Van Offel J, Ralston SH, Devogelaer JP, Van Hul W., Identification of sex-specific associations between polymorphisms of the osteoprotegerin gene, TNFRSF11B, and Paget's disease of bone. J Bone Miner Res. 2007; 22: 1062-71.
14. Roshandel D, Holliday KL, Pye SR, Boonen S, Borghs H, Vanderschueren D, Huhtaniemi IT, Adams JE, Ward KA, Bartfai G, Casanueva F, Finn JD, Forti G, Giwercman A, Han TS, Kula K, Lean ME, Pendleton N, Punab M, Silman AJ, Wu FC, Thomson W, O'Neill TW., Genetic variation in the RANKL/RANK/OPG signaling pathway is associated with bone turnover and bone mineral density in men. J Bone Miner Res. 2010; 25: 1830-8.
15. Dong SS, Liu XG, Chen Y, Guo Y, Wang L, Zhao J, Xiong DH, Xu XH, Recker RR, Deng HW., Association analyses of RANKL/RANK/OPG gene polymorphisms with femoral neck compression strength index variation in Caucasians. Calcif Tissue Int. 2009; 85: 104-12.
16. Xiong DH, Liu XG, Guo YF, Tan LJ, Wang L, Sha BY, Tang ZH, Pan F, Yang TL, Chen XD, Lei SF, Yerges LM, Zhu XZ, Wheeler VW, Patrick AL, Bunker CH, Guo Y, Yan H, Pei YF, Zhang YP, Levy S, Papasian CJ, Xiao P, Lundberg YW, Recker RR, Liu YZ, Liu YJ, Zmuda JM, Deng HW., Genome-wide association and follow-up replication studies identified ADAMTS18 and TGFBR3 as bone mass candidate genes in different ethnic groups. Am J Hum Genet. 2009; 84: 388-98.
17. Koller DL, Ichikawa S, Lai D, Padgett LR, Doheny KF, Pugh E, Paschall J, Hui SL, Edenberg HJ, Xuei X, Peacock M, Econs MJ, Foroud T., Genome-wide association study of bone mineral density in premenopausal European-American women and replication in African-American women. J Clin Endocrinol Metab. 2010; 95: 1802-9.
18. Zhang YP, Deng FY, Chen Y, Pei YF, Fang Y, Guo YF, Guo X, Liu XG, Zhou Q, Liu YJ, Deng HW., Replication study of candidate genes/loci associated with osteoporosis based on genome-wide screening. Osteoporos Int. 2010; 21: 785-95.
19. Riancho JA, Olmos JM, Pineda B, Garcia-Ibarbia C, Perez-Nunez MI, Nan DN, Velasco J, Cano A, Garcia-Perez MA, Zarrabeitia MT, Gonzalez-Macias J., Wnt receptors, bone mass, and fractures: gene-wide association analysis of LRP5 and LRP6 polymorphisms with replication. Eur J Endocrinol. 2011; 164: 123-31.
20. Sims AM, Shephard N, Carter K, Doan T, Dowling A, Duncan EL, Eisman J, Jones G, Nicholson G, Prince R, Seeman E, Thomas G, Wass JA, Brown MA., Genetic analyses in a sample of individuals with high or low BMD shows association with multiple Wnt pathway genes. J Bone Miner Res. 2008; 23: 499-506.
21. Huang QY, Li GH, Kung AW., Multiple osteoporosis susceptibility genes on chromosome 1p36 in Chinese. Bone. 2009; 44: 984-8.
22. Zmuda JM, Yerges-Armstrong LM, Moffett SP, Klei L, Kammerer CM, Roeder K, Cauley JA, Kuipers A, Ensrud KE, Nestlerode CS, Hoffman AR, Lewis CE, Lang TF, Barrett-Connor E, Ferrell RE, Orwoll ES., Genetic analysis of vertebral trabecular bone density and cross-sectional area in older men. Osteoporos Int. 2011; 22: 1079-90.
23. Besse A, Lamothe B, Campos AD, Webster WK, Maddineni U, Lin SC, Wu H, Darnay BG., TAK1-dependent signaling requires functional interaction with TAB2/TAB3. J Biol Chem. 2007; 282: 3918-28.
24. Takada I, Kouzmenko AP, Kato S., Molecular switching of osteoblastogenesis versus adipogenesis: implications for targeted therapies. Expert Opin Ther Targets. 2009; 13: 593-603.
25. Deng HW, Mahaney MC, Williams JT, Li J, Conway T, Davies KM, Li JL, Deng H, Recker RR., Relevance of the genes for bone mass variation to susceptibility to osteoporotic fractures and its implications to gene search for complex human diseases. Genet Epidemiol. 2002; 22: 12-25.
26. Hong X, Hsu YH, Terwedow H, Tang G, Liu X, Jiang S, Xu X, Xu X., Association of the methylenetetrahydrofolate reductase C677T polymorphism and fracture risk in Chinese postmenopausal women. Bone. 2007; 40: 737-42.
27. Wang C, Zhang H, He JW, Gu JM, Hu WW, Hu YQ, Li M, Liu YJ, Fu WZ, Yue H, Ke YH, Zhang ZL., The virulence gene and clinical phenotypes of osteopetrosis in the Chinese population: six novel mutations of the CLCN7 gene in twelve osteopetrosis families. J Bone Miner Metab. 2011; 30: 338-48.
28. He JW, Yue H, Hu WW, Hu YQ, Zhang ZL., Contribution of the sclerostin domain-containing protein 1 (SOSTDC1) gene to normal variation of peak bone mineral density in Chinese women and men. J Bone Miner Metab. 2011; 29: 571-81.
29. Qin YJ, Zhang ZL, Zhang H, Hu WW, Liu YJ, Hu YQ, Li M, Gu JM, He JW., Age-related changes of serum tartrate-resistant acid phosphatase 5b and the relationship with bone mineral density in Chinese women. Acta Pharmacol Sin. 2008; 29: 1493-8.
30. Zhang ZL, Qin YJ, Huang QR, He JW, Li M, Zhou Q, Hu YQ, Li YJ., Association of estrogen receptor-alpha and vitamin D receptor genotypes with therapeutic response to calcium in postmenopausal Chinese women. Acta Pharmacol Sin. 2004; 25: 1690-7.
31. Zhang ZL, Qin YJ, He JW, Huang QR, Li M, Hu YQ, Liu YJ., Association of polymorphisms in low-density lipoprotein receptor-related protein 5 gene with bone mineral density in postmenopausal Chinese women. Acta Pharmacol Sin. 2005; 26: 1111-6.
32. Dawson-Hughes B, Harris SS, Krall EA, Dallal GE., Effect of calcium and vitamin D supplementation on bone density in men and women 65 years of age or older. N Engl J Med. 1997; 337: 670-6.
33. Genant HK, Wu CY, van Kuijk C, Nevitt MC., Vertebral fracture assessment using a semiquantitative technique. J Bone Miner Res. 1993; 8: 1137-48.
34. Genant HK, Jergas M, Palermo L, Nevitt M, Valentin RS, Black D, Cummings SR., Comparison of semiquantitative visual and quantitative morphometric assessment of prevalent and incident vertebral fractures in osteoporosis The Study of Osteoporotic Fractures Research Group. J Bone Miner Res. 1996; 11: 984-96.
35. Karsak M, Cohen-Solal M, Freudenberg J, Ostertag A, Morieux C, Kornak U, Essig J, Erxlebe E, Bab I, Kubisch C, de Vernejoul MC, Zimmer A., Cannabinoid receptor type 2 gene is associated with human osteoporosis. Hum Mol Genet. 2005; 14: 3389-96.
36. Kiel DP, Demissie S, Dupuis J, Lunetta KL, Murabito JM, Karasik D., Genome-wide association with bone mass and geometry in the Framingham Heart Study. BMC Med Genet. 2007; 8 (Suppl 1): S14.
37. Shiraki M, Urano T, Kuroda T, Saito M, Tanaka S, Miyao-Koshizuka M, Inoue S., The synergistic effect of bone mineral density and methylenetetrahydrofolate reductase (MTHFR) polymorphism (C677T) on fractures. J Bone Miner Metab. 2008; 26: 595-602.
38. Massart F, Marini F, Bianchi G, Minisola S, Luisetto G, Pirazzoli A, Salvi S, Micheli D, Masi L, Brandi ML., Age-specific effects of estrogen receptors' polymorphisms on the bone traits in healthy fertile women: the BONTURNO study. Reprod Biol Endocrinol. 2009; 7: 32.
39. Greendale GA, Chu J, Ferrell R, Randolph JF Jr, Johnston JM, Sowers MR., The association of bone mineral density with estrogen receptor gene polymorphisms. Am J Med. 2006; 119: S79-86.
40. Jiang XY, Chen Y, Xu L, Li X, Cao FF, Li L, Lu M, Jin L, Wang XF., Association of LPR5 polymorphism with bone mass density and cholesterol level in population of Chinese Han. Exp Clin Endocrinol Diabetes. 2010; 118: 388-91.
41. Tran BN, Nguyen ND, Eisman JA, Nguyen TV., Association between LRP5 polymorphism and bone mineral density: a Bayesian meta-analysis. BMC Med Genet. 2008; 9: 55.
42. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC., PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007; 81: 559-75.
43. Stephens M, Smith NJ, Donnelly P., A new statistical method for haplotype reconstruction from population data. Am J Hum Genet. 2001; 68: 978-89.
44. Stephens M, Donnelly P., A comparison of Bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet. 2003; 73: 1162-9.
45. Skol AD, Scott LJ, Abecasis GR, Boehnke M., Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat Genet. 2006; 38: 209-13.
46. Tran BN, Nguyen ND, Nguyen VX, Center JR, Eisman JA, Nguyen TV., Genetic profiling and individualized prognosis of fracture. J Bone Miner Res. 2011; 26: 414-9.
47. Tranah GJ, Taylor BC, Lui LY, Zmuda JM, Cauley JA, Ensrud KE, Hillier TA, Hochberg MC, Li J, Rhees BK, Erlich HA, Sternlicht MD, Peltz G, Cummings SR., Genetic variation in candidate osteoporosis genes, bone mineral density, and fracture risk: the study of osteoporotic fractures. Calcif Tissue Int. 2008; 83: 155-66.
48. Bathum L, von Bornemann Hjelmborg J, Christiansen L, Madsen JS, Skytthe A, Christensen K., Evidence for an association of methylene tetrahydrofolate reductase polymorphism C677T and an increased risk of fractures: results from a population-based Danish twin study. Osteoporos Int. 2004; 15: 659-64.
49. Agueda L, Urreizti R, Bustamante M, Jurado S, Garcia-Giralt N, Diez-Perez A, Nogues X, Mellibovsky L, Grinberg D, Balcells S., Analysis of three functional polymorphisms in relation to osteoporosis phenotypes: replication in a Spanish cohort. Calcif Tissue Int. 2010; 87: 14-24.
50. Karsak M, Malkin I, Toliat MR, Kubisch C, Nurnberg P, Zimmer A, Livshits G., The cannabinoid receptor type 2 (CNR2) gene is associated with hand bone strength phenotypes in an ethnically homogeneous family sample. Hum Genet. 2009; 126: 629-36.