Bone mineral density and genetic markers involved in three connected pathways (focal adhesion, actin cytoskeleton regulation and cell cycle): the CUMAGAS-BMD information system

References

• Braga V, Mottes M, Mirandola S, Lisi V, Malerba G, Sartori L, Bianchi G, Gatti D, Rossini M, Bianchini D, Adami S. (2000). Association of CTR and COLIA1 alleles with BMD values in peri- and postmenopausal women. Calcif Tissue Int 67:361–366.
   Google Scholar
• Branzei D, Foiani M. (2008). Regulation of DNA repair throughout the cell cycle. Nat Rev Mol Cell Biol 9:297–308.
   PubMed Web of Science ®Google Scholar
• Clayton D, McKeigue PM. (2001). Epidemiological methods for studying genes and environmental factors in complex diseases. Lancet 358:1356–1360.
   PubMed Web of Science ®Google Scholar
• DerSimonian R, Laird N. (1986). Meta-analysis in clinical trials. Control Clin Trials 7:177–188.
   PubMed Web of Science ®Google Scholar
• , GAIN Collaborative Research GroupManolio TA, Rodriguez LL, Brooks L, Abecasis G; , Collaborative Association Study of PsoriasisBallinger D, Daly M, Donnelly P, Faraone SV; , International Multi-Center ADHD Genetics ProjectFrazer K, Gabriel S, Gejman P; , Molecular Genetics of Schizophrenia CollaborationGuttmacher A, Harris EL, Insel T, Kelsoe JR; , Bipolar Genome StudyLander E, McCowin N, Mailman MD, Nabel E, Ostell J, Pugh E, Sherry S, Sullivan PF; , Major Depression Stage 1 Genomewide Association in Population-Based Samples StudyThompson JF, Warram J; , Genetics of Kidneys in Diabetes (GoKinD) StudyWholley D, Milos PM, Collins FS. (2007). New models of collaboration in genome-wide association studies: the Genetic Association Information Network. Nat Genet 39:1045–1051.
   PubMedGoogle Scholar
• Gordon KJ, Blobe GC. (2008). Role of transforming growth factor-beta superfamily signaling pathways in human disease. Biochim Biophys Acta 1782:197–228.
   PubMed Web of Science ®Google Scholar
• Grainger DJ, Heathcote K, Chiano M, Snieder H, Kemp PR, Metcalfe JC, Carter ND, Spector TD. (1999). Genetic control of the circulating concentration of transforming growth factor type beta1. Hum Mol Genet 8:93–97.
   PubMed Web of Science ®Google Scholar
• Grant SF, Reid DM, Blake G, Herd R, Fogelman I, Ralston SH. (1996). Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene. Nat Genet 14:203–205.
   PubMed Web of Science ®Google Scholar
• Guo Y, Tan LJ, Lei SF, Yang TL, Chen XD, Zhang F, Chen Y, Pan F, Yan H, Liu X, Tian Q, Zhang ZX, Zhou Q, Qiu C, Dong SS, Xu XH, Guo YF, Zhu XZ, Liu SL, Wang XL, Li X, Luo Y, Zhang LS, Li M, Wang JT, Wen T, Drees B, Hamilton J, Papasian CJ, Recker RR, Song XP, Cheng J, Deng HW. (2010). Genome-wide association study identifies ALDH7A1 as a novel susceptibility gene for osteoporosis. PLoS Genet 6:e1000806.
   PubMed Web of Science ®Google Scholar
• Hedges, Olkin. Statistical methods for meta-analysis. London: Academic Press 1985.
   Google Scholar
• Higgins JP, Thompson SG. (2002). Quantifying heterogeneity in a meta-analysis. Stat Med 21:1539–1558.
   PubMed Web of Science ®Google Scholar
• Hsu YH, Zillikens MC, Wilson SG, Farber CR, Demissie S, Soranzo N, Bianchi EN, Grundberg E, Liang L, Richards JB, Estrada K, Zhou Y, van Nas A, Moffatt MF, Zhai G, Hofman A, van Meurs JB, Pols HA, Price RI, Nilsson O, Pastinen T, Cupples LA, Lusis AJ, Schadt EE, Ferrari S, Uitterlinden AG, Rivadeneira F, Spector TD, Karasik D, Kiel DP. (2010). An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits. PLoS Genet 6:e1000977.
   PubMed Web of Science ®Google Scholar
• Ichikawa S, Koller DL, Padgett LR, Lai D, Hui SL, Peacock M, Foroud T, Econs MJ. (2010). Replication of previous genome-wide association studies of bone mineral density in premenopausal American women. J Bone Miner Res 25:1821–1829.
   PubMed Web of Science ®Google Scholar
• Johnson ML, Lara N, Kamel MA. (2009). How genomics has informed our understanding of the pathogenesis of osteoporosis. Genome Med 1:84.
   PubMedGoogle Scholar
• KEGG. www.genome.jp/kegg/ (2011):accessed on 15/Sep/2011
   Google Scholar
• Kiel DP, Demissie S, Dupuis J, Lunetta KL, Murabito JM, Karasik D. (2007). Genome-wide association with bone mass and geometry in the Framingham Heart Study. BMC Med Genet 8 Suppl 1:S14.
   Google Scholar
• Kitsios GD, Zintzaras E. (2010). Synopsis and data synthesis of genetic association studies in hypertension for the adrenergic receptor family genes: the CUMAGAS-HYPERT database. Am J Hypertens 23:305–313.
   Google Scholar
• Kung AW, Xiao SM, Cherny S, Li GH, Gao Y, Tso G, Lau KS, Luk KD, Liu JM, Cui B, Zhang MJ, Zhang ZL, He JW, Yue H, Xia WB, Luo LM, He SL, Kiel DP, Karasik D, Hsu YH, Cupples LA, Demissie S, Styrkarsdottir U, Halldorsson BV, Sigurdsson G, Thorsteinsdottir U, Stefansson K, Richards JB, Zhai G, Soranzo N, Valdes A, Spector TD, Sham PC. (2010). Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies. Am J Hum Genet 86:229–239.
   PubMed Web of Science ®Google Scholar
• Lau J, Antman EM, Jimenez-Silva J, Kupelnick B, Mosteller F, Chalmers TC. (1992). Cumulative meta-analysis of therapeutic trials for myocardial infarction. N Engl J Med 327:248–254.
   PubMed Web of Science ®Google Scholar
• Mitra SK, Hanson DA, Schlaepfer DD. (2005). Focal adhesion kinase: in command and control of cell motility. Nat Rev Mol Cell Biol 6:56–68.
   PubMed Web of Science ®Google Scholar
• Niu T, Chen C, Cordell H, Yang J, Wang B, Wang Z, Fang Z, Schork NJ, Rosen CJ, Xu X. (1999). A genome-wide scan for loci linked to forearm bone mineral density. Hum Genet 104:226–233.
   Google Scholar
• Paternoster L, Lorentzon M, Vandenput L, Karlsson MK, Ljunggren O, Kindmark A, Mellstrom D, Kemp JP, Jarett CE, Holly JM, Sayers A, St Pourcain B, Timpson NJ, Deloukas P, Davey Smith G, Ring SM, Evans DM, Tobias JH, Ohlsson C. (2010). Genome-wide association meta-analysis of cortical bone mineral density unravels allelic heterogeneity at the RANKL locus and potential pleiotropic effects on bone. PLoS Genet 6: e1001217.
   Google Scholar
• Ralston SH, Uitterlinden AG, Brandi ML, Balcells S, Langdahl BL, Lips P, Lorenc R, Obermayer-Pietsch B, Scollen S, Bustamante M, Husted LB, Carey AH, Diez-Perez A, Dunning AM, Falchetti A, Karczmarewicz E, Kruk M, van Leeuwen JP, van Meurs JB, Mangion J, McGuigan FE, Mellibovsky L, del Monte F, Pols HA, Reeve J, Reid DM, Renner W, Rivadeneira F, van Schoor NM, Sherlock RE, Ioannidis JP; GENOMOS Investigators. (2006). Large-scale evidence for the effect of the COLIA1 Sp1 polymorphism on osteoporosis outcomes: the GENOMOS study. PLoS Med 3:e90.
   PubMed Web of Science ®Google Scholar
• 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. (2008). Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study. Lancet 371:1505–1512.
   PubMed Web of Science ®Google Scholar
• Richards JB, Kavvoura FK, Rivadeneira F, Styrkársdóttir U, Estrada K, Halldórsson 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; Genetic Factors for Osteoporosis Consortium. (2009). Collaborative meta-analysis: associations of 150 candidate genes with osteoporosis and osteoporotic fracture. Ann Intern Med 151:528–537.
   PubMed Web of Science ®Google Scholar
• Rivadeneira F, Styrkársdottir U, Estrada K, Halldórsson 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; Genetic Factors for Osteoporosis (GEFOS) Consortium. (2009). Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. Nat Genet 41:1199–1206.
   PubMed Web of Science ®Google Scholar
• Ruoslahti E, Obrink B. (1996). Common principles in cell adhesion. Exp Cell Res 227:1–11.
   PubMed Web of Science ®Google Scholar
• Stewart TL, Jin H, McGuigan FE, Albagha OM, Garcia-Giralt N, Bassiti A, Grinberg D, Balcells S, Reid DM, Ralston SH. (2006). Haplotypes defined by promoter and intron 1 polymorphisms of the COLIA1 gene regulate bone mineral density in women. J Clin Endocrinol Metab 91:3575–3583.
   PubMedGoogle Scholar
• Stewart TL, Ralston SH. (2000). Role of genetic factors in the pathogenesis of osteoporosis. J Endocrinol 166:235–245.
   PubMedGoogle Scholar
• 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. (2008). Multiple genetic loci for bone mineral density and fractures. N Engl J Med 358:2355–2365.
   PubMed Web of Science ®Google Scholar
• Trikalinos TA, Salanti G, Zintzaras E, Ioannidis JP. (2008). Meta-analysis methods. Adv Genet 60:311–334.
   PubMed Web of Science ®Google Scholar
• Whitehead A. (2002). Meta-Analysis of Controlled Clinical Trials (Statistics in Practice). Wiley: 1st Edn (September 9, 2002).
   Google Scholar
• Williams FM, Spector TD. (2006). Recent advances in the genetics of osteoporosis. J Musculoskelet Neuronal Interact 6:27–35.
   PubMedGoogle Scholar
• 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. (2009). 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 84:388–398.
   Web of Science ®Google Scholar
• Zaidel-Bar R, Cohen M, Addadi L, Geiger B. (2004). Hierarchical assembly of cell-matrix adhesion complexes. Biochem Soc Trans 32:416–420.
   PubMed Web of Science ®Google Scholar
• Zintzaras E, Doxani C, Koufakis T, Kastanis A, Rodopoulou P, Karachalios T. (2011). Synopsis and meta-analysis of genetic association studies in osteoporosis for the focal adhesion family genes: the CUMAGAS-OSTEOporosis information system. BMC Med 9:9.
   Google Scholar
• Zintzaras E, Kitsios GD, Ziogas DC, Rodopoulou P, Karachalios T. (2010). Field synopsis and synthesis of genetic association studies in osteoarthritis: the CUMAGAS-OSTEO information system. Am J Epidemiol 171:851–858.
   Google Scholar
• Zintzaras E, Kitsios GD. (2009). Synopsis and synthesis of candidate-gene association studies in chronic lymphocytic leukemia: the CUMAGAS-CLL information system. Am J Epidemiol 170:671–678.
   Google Scholar
• Zintzaras E, Lau J. (2008). Synthesis of genetic association studies for pertinent gene-disease associations requires appropriate methodological and statistical approaches. J Clin Epidemiol 61:634–645.
   PubMed Web of Science ®Google Scholar
• Zintzaras E, Lau J. (2008). Trends in meta-analysis of genetic association studies. J Hum Genet 53:1–9.
   PubMed Web of Science ®Google Scholar
• Zintzaras E, Zdoukopoulos N. (2009). A field synopsis and meta-analysis of genetic association studies in peripheral arterial disease: The CUMAGAS-PAD database. Am J Epidemiol 170:1–11.
   PubMed Web of Science ®Google Scholar