Osteoporosis is associated with more than vitamin D genes – Jan 2016

Osteoporosis: A Silent Disease with Complex Genetic Contribution

Journal of Genetics and Genomics, Available online 2 January 2016, doi:10.1016/j.jgg.2015.12.001
Maryam Mafi Golchina, Laleh Heidarib, Seyyed Mohammad Hossein Ghaderianb, Haleh Akhavan-Niakia, ,

Osteoporosis is the most common multifactorial metabolic bone disorder worldwide with a strong genetic component. In this review, the evidence for a genetic contribution to osteoporosis and related phenotypes is summarized alongside with methods used to identify osteoporosis susceptibility genes. The key biological pathways involved in the skeleton and bone development are discussed with a particular focus on master genes clustered in these pathways and their mode of action. Furthermore, the most studied single nucleotide polymorphisms (SNPs) analyzed for their importance as genetic markers of the disease are presented. New data generated by next-generation sequencing in conjunction with extensive meta-analyses should contribute to a better understanding of the genetic basis of osteoporosis and related phenotype variability. These data could be ultimately used for identifying at-risk patients for disease prevention by both controlling environmental factors and providing possible therapeutic targets.

Abbreviations
ALDH, aldehyde dehydrogenase; APC, Adenomatous polyposis coli; APOE, apolipoprotein E; BMD, bone mineral density; CBFA1, core-binding factor A1; CGAS, candidate gene association study; COL1A1, collagen type I α1; CRFs, clinical risk factors; CTNNB1, catenin β1; CYP, cytochrome P450; DBP, vitamin D binding protein; DKK1, Dickkopf1; DMP1, dentin matrix acidic phosphoprotein 1; ER, estrogen receptor; GRP177, G-protein-coupled receptor 177; GWAS, genome-wide association study; HDAC, histone deacetylase; hMSC, human mesenchymal stem cells; IBSP, Integrin-binding sialoprotein; IGF, insulin-like growth factor; IL, interleukin; LRP, low-density lipoprotein receptor-related protein; LS, linkage study; MEF2C, myocyte enhancer factor 2C; OPG, osteoprotegerin; RSPO, R-spondin; PTH, parathyroid hormone; RANKL, receptor activator of NF-κ b ligand; RUNX2, runt-related transcription factor 2; SNP, single nucleotide polymorphism; SOST, sclerostin; SOX, sex-determining region Y; Sp1, specificity protein 1; TCF/LEF, T cell factor/lymphoid enhancer factor; TGF β, transforming growth factor β; TNFRS11B, tumor necrosis factor receptor superfamily, member 11b; UGT2B17, UDP- glucuronosyl transferase 2B17; VDR, vitamin D receptor; Wnt, wingless-type

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