Contribution of genetic and epigenetic mechanisms to Wnt pathway activity in prevalent skeletal disorders

Gene

Volumn 532, Issue 2, 2013, Pages 165-172

  García Ibarbia, Carmen ^a   Delgado Calle, Jesús ^a   Casafont, Iñigo ^a   Velasco, Javier ^a   Arozamena, Jana ^a   Pérez Núñez, María I ^b   Alonso, María A ^b   Berciano, María T ^a   Ortiz, Fernando ^a   Pérez Castrillón, José L ^c   Fernández, Agustín F ^d   Fraga, Mario F ^d   Zarrabeitia, María T ^a   Riancho, José A ^a  

^a UNIVERSITY OF CANTABRIA   (Spain)

^b HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^c UNIVERSITY OF VALLADOLID   (Spain)

^d DEPARTAMENTO DE BIOQUÍMICA Y BIOLOGÍA MOLECULAR   (Spain)

Author keywords

Catenin; Bone diseases; DNA methylation; Fractures; Wnt

Indexed keywords

BETA CATENIN; CASEIN KINASE IALPHA; CASEIN KINASE IEPSILON; FZD10 PROTEIN; SECRETED FRIZZLED RELATED PROTEIN 1; SECRETED FRIZZLED RELATED PROTEIN 4; TBL1X PROTEIN; UNCLASSIFIED DRUG; WNT PROTEIN; WNT10A PROTEIN; WNT16 PROTEIN; WNT4 PROTEIN; WNT8A PROTEIN;

ADULT; AGED; ARTICLE; BLOOD SAMPLING; BONE TISSUE; CELL LEVEL; CELL NUCLEUS; CONFOCAL MICROSCOPY; CONTROLLED STUDY; CPG ISLAND; DNA ISOLATION; DNA METHYLATION; DNA MICROARRAY; DOWN REGULATION; EPIGENETICS; FEMALE; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENE FREQUENCY; GENETIC TRANSCRIPTION; GENOTYPE; HIP FRACTURE; HIP OSTEOARTHRITIS; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOFLUORESCENCE MICROSCOPY; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; OSTEOBLAST; PATHOLOGIC FRACTURE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; UPREGULATION; WNT SIGNALING PATHWAY;

Β-CATENIN; 5-AZA-2-DEOXY-AZACYTIDINE; AZADC; BONE DISEASES; C-TERMINAL BINDING PROTEIN 1; CACYBP; CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II GAMMA; CALCYCLIN BINDING PROTEIN; CAMK2G; CASEIN KINASE 1, ALPHA 1; CASEIN KINASE 1, ALPHA 1-LIKE; CASEIN KINASE 1, EPSILON; CSNK1A1; CSNK1A1L; CSNK1E; CT; CTBP1; DNA METHYLATION; FALSE DISCOVERY RATE; FDR; FOS-LIKE ANTIGEN 1; FOSL1; FRACTURES; FRIZZLED HOMOLOG 10; FRIZZLED-RELATED PROTEIN; FRZB; FZD10; GENOME-WIDE ASSOCIATION STUDY; GLYCOGEN SYNTHASE KINASE 3 BETA; GSK3B; GWAS; HARDY-WEINBERG EQUILIBRIUM; HWE; LIPOPROTEIN RECEPTOR RELATED PROTEIN 5; LRP5; PHOSPHOLIPASE C, BETA 3 (PHOSPHATIDYLINOSITOL-SPECIFIC); PLCB3; PPP2R1A; PROTEIN PHOSPHATASE 2 (FORMERLY 2A), REGULATORY SUBUNIT A, ALPHA ISOFORM; RAS HOMOLOG GENE FAMILY, MEMBER A; RHOA; SECRETED FRIZZLED-RELATED PROTEIN 1; SECRETED FRIZZLED-RELATED PROTEIN 4; SFRP1; SFRP4; TATA BOX BINDING PROTEIN; TBL1X; TBP; THRESHOLD CYCLE; TRANSDUCIN (BETA)-LIKE 1X-LINKED; WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 10A; WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 16; WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 4; WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 8A; WNT; WNT10A; WNT16; WNT4; WNT8A;

AGED; AGED, 80 AND OVER; BETA CATENIN; CELLS, CULTURED; DNA METHYLATION; EPIGENESIS, GENETIC; FEMALE; GENE EXPRESSION; GENE FREQUENCY; HIP FRACTURES; HUMANS; MALE; OSTEOARTHRITIS, HIP; OSTEOPOROSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; WNT SIGNALING PATHWAY;

EID: 84886752108     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.09.080     Document Type: Article

References (54)

1. Arcogen Consortium Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study. Lancet 2012, 380:815-823.
2. Arokoski J.P., Arokoski M.H., Jurvelin J.S., Helminen H.J., Niemitukia L.H., Kroger H. Increased bone mineral content and bone size in the femoral neck of men with hip osteoarthritis. Ann. Rheum. Dis. 2002, 61:145-150.
3. Barrett J.C., Fry B., Maller J., Daly M.J. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005, 21:263-265.
4. Benjamini Y., Yekutieli D. Quantitative trait loci analysis using the false discovery rate. Genetics 2005, 171:783-790.
5. Bodine P.V., et al. The Wnt antagonist secreted frizzled-related protein-1 controls osteoblast and osteocyte apoptosis. J. Cell. Biochem. 2005, 96:1212-1230.
6. Castaneda S., Roman-Blas J.A., Largo R., Herrero-Beaumont G. Subchondral bone as a key target for osteoarthritis treatment. Biochem. Pharmacol. 2012, 83:315-323.
7. Chaganti R.K., et al. Bone mineral density and prevalent osteoarthritis of the hip in older men for the Osteoporotic Fractures in Men (MrOS) Study Group. Osteoporos. Int. 2010, 21:1307-1316.
8. Chang J., et al. Noncanonical Wnt-4 signaling enhances bone regeneration of mesenchymal stem cells in craniofacial defects through activation of p38 MAPK. J. Biol. Chem. 2007, 282:30938-30948.
9. Chiquet B.T., et al. Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate. Hum. Mol. Genet. 2008, 17:2212-2218.
10. Conde L., et al. PupaSuite: finding functional single nucleotide polymorphisms for large-scale genotyping purposes. Nucleic Acids Res. 2006, 34:W621-W625.
11. Corr M. Wnt-beta-catenin signaling in the pathogenesis of osteoarthritis. Nat. Clin. Pract. Rheumatol. 2008, 4:550-556.
12. Delgado-Calle J., Sanudo C., Sanchez-Verde L., Garcia-Renedo R.J., Arozamena J., Riancho J.A. Epigenetic regulation of alkaline phosphatase in human cells of the osteoblastic lineage. Bone 2011, 49:830-838.
13. Delgado-Calle J., Garmilla P., Riancho J.A. Do epigenetic marks govern bone mass and homeostasis?. Curr. Genomics 2012, 13:252-263.
14. Delgado-Calle J., et al. DNA methylation contributes to the regulation of sclerostin expression in human osteocytes. J. Bone Miner. Res. 2012, 27:926-937.
15. Delgado-Calle J., Sanudo C., Fernandez A.F., Garcia-Renedo R., Fraga M.F., Riancho J.A. Role of DNA methylation in the regulation of the RANKL-OPG system in human bone. Epigenetics 2012, 7:83-91.
16. Dequeker J., Aerssens J., Luyten F.P. Osteoarthritis and osteoporosis: clinical and research evidence of inverse relationship. Aging Clin. Exp. Res. 2003, 15:426-439.
17. Diarra D., et al. Dickkopf-1 is a master regulator of joint remodeling. Nat. Med. 2007, 13:156-163.
18. Ekstrom E.J., Sherwood V., Andersson T. Methylation and loss of secreted frizzled-related protein 3 enhances melanoma cell migration and invasion. PLoS One 2011, 6:e18674.
19. Estrada K., et al. Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nat. Genet. 2012, 44:491-501.
20. Fraga M.F., Esteller M. Epigenetics and aging: the targets and the marks. Trends Genet. 2007, 23:413-418.
21. Gaur T., et al. Canonical WNT signaling promotes osteogenesis by directly stimulating Runx2 gene expression. J. Biol. Chem. 2005, 280:33132-33140.
22. Gordon M.D., Nusse R. Wnt signaling: multiple pathways, multiple receptors, and multiple transcription factors. J. Biol. Chem. 2006, 281:22429-22433.
23. Hantusch B., Kalt R., Krieger S., Puri C., Kerjaschki D. Sp1/Sp3 and DNA-methylation contribute to basal transcriptional activation of human podoplanin in MG63 versus Saos-2 osteoblastic cells. BMC Mol. Biol. 2007, 8:20.
24. Hernandez J.L., et al. Aromatase expression in osteoarthritic and osteoporotic bone. Arthritis Rheum. 2008, 58:1696-1700.
25. Herrero-Beaumont G., Roman-Blas J.A., Castaneda S., Jimenez S.A. Primary osteoarthritis no longer primary: three subsets with distinct etiological, clinical, and therapeutic characteristics. Semin. Arthritis Rheum. 2009, 39:71-80.
26. Jonsson K.B., Frost A., Nilsson O., Ljunghall S., Ljunggren O. Three isolation techniques for primary culture of human osteoblast-like cells: a comparison. Acta Orthop. Scand. 1999, 70:365-373.
27. Kawaguchi H. Regulation of osteoarthritis development by Wnt-beta-catenin signaling through the endochondral ossification process. J. Bone Miner. Res. 2009, 24:8-11.
28. Kawano Y., Kypta R. Secreted antagonists of the Wnt signalling pathway. J. Cell Sci. 2003, 116:2627-2634.
29. Kocemba K.A., et al. Transcriptional silencing of the Wnt-antagonist DKK1 by promoter methylation is associated with enhanced Wnt signaling in advanced multiple myeloma. PLoS One 2012, 7:e30359.
30. Li J., Wang C.Y. TBL1-TBLR1 and beta-catenin recruit each other to Wnt target-gene promoter for transcription activation and oncogenesis. Nat. Cell Biol. 2008, 10:160-169.
31. Lodewyckx L., Lories R.J. WNT Signaling in osteoarthritis and osteoporosis: what is the biological significance for the clinician?. Curr. Rheumatol. Rep. 2009, 11:23-30.
32. Loughlin J., et al. Functional variants within the secreted frizzled-related protein 3 gene are associated with hip osteoarthritis in females. Proc. Natl. Acad. Sci. U. S. A. 2004, 101:9757-9762.
33. Luyten F.P., Tylzanowski P., Lories R.J. Wnt signaling and osteoarthritis. Bone 2009, 44:522-527.
34. MacDonald B.T., Tamai K., He X. Wnt/beta-catenin signaling: components, mechanisms, and diseases. Dev. Cell 2009, 17:9-26.
35. Mbalaviele G., Shin C.S., Civitelli R. Cell-cell adhesion and signaling through cadherins: connecting bone cells in their microenvironment. J. Bone Miner. Res. 2006, 21:1821-1827.
36. Medina-Gomez C., et al. Meta-analysis of genome-wide scans for total body BMD in children and adults reveals allelic heterogeneity and age-specific effects at the WNT16 locus. PLoS Genet. 2012, 8:e1002718.
37. Nakanishi R., et al. Osteoblast-targeted expression of Sfrp4 in mice results in low bone mass. J. Bone Miner. Res. 2008, 23:271-277.
38. Nelson W.J., Nusse R. Convergence of Wnt, β-catenin, and cadherin pathways. Science 2004, 303:1483-1487.
39. Panoutsopoulou K., et al. Insights into the genetic architecture of osteoarthritis from stage 1 of the arcOGEN study. Ann. Rheum. Dis. 2011, 70:864-867.
40. Piters E., Boudin E., Van Hul W. Wnt signaling: a win for bone. Arch. Biochem. Biophys. 2008, 473:112-116.
41. Purcell S., et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 2007, 81:559-575.
42. Ralston S.H. Osteoporosis as an hereditary disease. Clin. Rev. Bone Miner. Metab. 2010, 8:68-76.
43. Riancho J.A., et al. Wnt receptors, bone mass, and fractures: gene-wide association analysis of LRP5 and LRP6 polymorphisms with replication. Eur. J. Endocrinol. 2011, 164:123-131.
44. Richards J.B., et al. Collaborative meta-analysis: associations of 150 candidate genes with osteoporosis and osteoporotic fracture. Ann. Intern. Med. 2009, 151:528-537.
45. Styrkarsdottir U., et al. New sequence variants associated with bone mineral density. Nat. Genet. 2009, 41:15-17.
46. Valdes A.M., et al. Sex and ethnic differences in the association of ASPN, CALM1, COL2A1, COMP, and FRZB with genetic susceptibility to osteoarthritis of the knee. Arthritis Rheum. 2007, 56:137-146.
47. Valero C., et al. Relationship of sclerostin and secreted frizzled protein polymorphisms with bone mineral density: an association study with replication in postmenopausal women. Menopause 2011, 18:802-807.
48. Valle-Perez B., Arques O., Vinyoles M., de Herreros A.G., Dunach M. Coordinated action of CK1 isoforms in canonical Wnt signaling. Mol. Cell. Biol. 2011, 31:2877-2888.
49. van Amerongen R., Nusse R. Towards an integrated view of Wnt signaling in development. Development 2009, 136:3205-3214.
50. Velasco J., et al. Wnt pathway genes in osteoporosis and osteoarthritis: differential expression and genetic association study. Osteoporos. Int. 2010, 21:109-118.
51. Wang H.Y., Liu T., Malbon C.C. Structure-function analysis of Frizzleds. Cell. Signal. 2006, 18:934-941.
52. Williams B.O., Insogna K.L. Where Wnts went: the exploding field of Lrp5 and Lrp6 signaling in bone. J. Bone Miner. Res. 2009, 24:171-178.
53. Yao W., Cheng Z., Shahnazari M., Dai W., Johnson M.L., Lane N.E. Overexpression of secreted frizzled-related protein 1 inhibits bone formation and attenuates parathyroid hormone bone anabolic effects. J. Bone Miner. Res. 2010, 25:190-199.
54. Zheng H.F., et al. WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk. PLoS Genet. 2012, 8:e1002745.