Pathway-based genome-wide association analysis identified the importance of EphrinA-EphR pathway for femoral neck bone geometry

Bone

Volumn 46, Issue 1, 2010, Pages 129-136

  Chen, Yuan ^a   Xiong, Dong Hai ^b   Guo, Yan Fang ^a   Pan, Feng ^a   Zhou, Qi ^a   Zhang, Feng ^a   Deng, Hong Wen ^a,b,c  

^a XI'AN JIAOTONG UNIVERSITY   (China)

^b UNIVERSITY OF MISSOURI KANSAS CITY   (United States)

^c BEIJING JIAOTONG UNIVERSITY   (China)

Author keywords

Bone strength; EphrinA EphR pathway; Femoral neck bone geometry; Genetic factor; Pathway based genome wide association analysis

Indexed keywords

EPHRIN; EPHRIN A; EPHRIN A5; EPHRIN RECEPTOR; EPHRIN RECEPTOR A1; EPHRIN RECEPTOR A3; EPHRIN RECEPTOR A4; EPHRIN RECEPTOR A5; EPHRIN RECEPTOR A7; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BONE CHARACTERISTICS AND FUNCTIONS; BONE STRENGTH; FEMALE; FEMORAL NECK BONE GEOMETRY; FEMUR NECK; GENOME ANALYSIS; GENOTYPE; HIP FRACTURE; HUMAN; HUMAN EXPERIMENT; MALE; NORMAL HUMAN; PHENOTYPE; SEX DIFFERENCE; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; EPHRINS; FEMALE; FEMUR NECK; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; MALE; MIDDLE AGED; SIGNAL TRANSDUCTION;

EID: 72149108138     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2009.09.025     Document Type: Article

References (42)

1. Haleem S., Lutchman L., Mayahi R., Grice J.E., and Parker M.J. Mortality following hip fracture: trends and geographical variations over the last 40 years. Injury 39 (2008) 1157-1163
2. Shen H., Long J.R., Xiong D.H., Liu Y.J., Liu Y.Z., Xiao P., et al. Mapping quantitative trait loci for cross-sectional geometry at the femoral neck. J. Bone Miner. Res. 20 (2005) 1973-1982
3. Slemenda C.W., Turner C.H., Peacock M., Christian J.C., Sorbel J., Hui S.L., et al. The genetics of proximal femur geometry, distribution of bone mass and bone mineral density. Osteoporos. Int. 6 (1996) 178-182
4. Xiong D.H., Shen H., Xiao P., Guo Y.F., Long J.R., Zhao L.J., et al. Genome-wide scan identified QTLs underlying femoral neck cross-sectional geometry that are novel studied risk factors of osteoporosis. J. Bone Miner. Res. 21 (2006) 424-437
5. Rivadeneira F., van Meurs J.B., Kant J., Zillikens M.C., Stolk L., Beck T.J., et al. Estrogen receptor beta (ESR2) polymorphisms in interaction with estrogen receptor alpha (ESR1) and insulin-like growth factor I (IGF1) variants influence the risk of fracture in postmenopausal women. J. Bone Miner. Res. 21 (2006) 1443-1456
6. Demissie S., Dupuis J., Cupples L.A., Beck T.J., Kiel D.P., and Karasik D. Proximal hip geometry is linked to several chromosomal regions: genome-wide linkage results from the Framingham Osteoporosis Study. Bone 40 (2007) 743-750
7. Wang K., Li M., and Bucan M. Pathway-based approaches for analysis of genomewide association studies. Am. J. Hum. Genet. 81 (2007) 1278-1283
8. Liu X.G., Tan L.J., Lei S.F., Liu Y.J., Shen H., Wang L., et al. Genome-wide association and replication studies identified TRHR as an important gene for lean body mass. Am. J. Hum. Genet. 84 (2009) 418-423
9. Duan Y., Beck T.J., Wang X.F., and Seeman E. Structural and biomechanical basis of sexual dimorphism in femoral neck fragility has its origins in growth and aging. J. Bone Miner. Res. 18 (2003) 1766-1774
10. Rivadeneira F., Houwing-Duistermaat J.J., Beck T.J., Janssen J.A., Hofman A., Pols H.A., et al. The influence of an insulin-like growth factor I gene promoter polymorphism on hip bone geometry and the risk of nonvertebral fracture in the elderly: the Rotterdam Study. J. Bone Miner. Res. 19 (2004) 1280-1290
11. Beck T. Measuring the structural strength of bones with dual-energy X-ray absorptiometry: principles, technical limitations, and future possibilities. Osteoporos. Int. 14 Suppl 5 (2003) S81-S88
12. Cupples L.A., Arruda H.T., Benjamin E.J., D'Agostino Sr. R.B., Demissie S., DeStefano A.L., et al. The Framingham Heart Study 100K SNP genome-wide association study resource: overview of 17 phenotype working group reports. BMC Med. Genet. 8 Suppl 1 (2007) S1
13. Khoo B.C., Beck T.J., Qiao Q.H., Parakh P., Semanick L., Prince R.L., et al. In vivo short-term precision of hip structure analysis variables in comparison with bone mineral density using paired dual-energy x-ray absorptiometry scans from multi-center clinical trials. Bone 37 (2005) 112-121
14. Martin R.B., and Burr D.B. Non-invasive measurement of long bone cross-sectional moment of inertia by photon absorptiometry. J. Biomech. 17 (1984) 195-201
15. Karasik D., Zhou, Cupples L.A., Hannan M.T., Kiel D.P., and Demissie S. Bivariate genome-wide linkage analysis of femoral bone traits and leg lean mass: Framingham study. J. Bone Miner. Res. 24 (2009) 710-718
16. Ahn S.J., Costa J., and Emanuel J.R. PicoGreen quantitation of DNA: effective evaluation of samples pre- or post-PCR. Nucleic Acids Res. 24 (1996) 2623-2625
17. Singer V.L., Jones L.J., Yue S.T., and Haugland R.P. Characterization of PicoGreen reagent and development of a fluorescence-based solution assay for double-stranded DNA quantitation. Anal. Biochem. 249 (1997) 228-238
18. Di X., Matsuzaki H., Webster T.A., Hubbell E., Liu G., Dong S., et al. Dynamic model based algorithms for screening and genotyping over 100 K SNPs on oligonucleotide microarrays. Bioinformatics 21 (2005) 1958-1963
19. Rabbee N., and Speed T.P. A genotype calling algorithm for affymetrix SNP arrays. Bioinformatics 22 (2006) 7-12
20. Subramanian A., Tamayo P., Mootha V.K., Mukherjee S., Ebert B.L., Gillette M.A., et al. Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proc. Natl. Acad. Sci. U. S. A. 102 (2005) 15545-15550
21. Pritchard J.K., Stephens M., and Donnelly P. Inference of population structure using multilocus genotype data. Genetics 155 (2000) 945-959
22. Devlin B., and Roeder K. Genomic control for association studies. Biometrics 55 (1999) 997-1004
23. Lee L.L., Lee J.S., Waldman S.D., Casper R.F., and Grynpas M.D. Polycyclic aromatic hydrocarbons present in cigarette smoke cause bone loss in an ovariectomized rat model. Bone 30 (2002) 917-923
24. Lackmann M., and Boyd A.W. Eph, a protein family coming of age: more confusion, insight, or complexity?. Sci. Signal 1 (2008) re2
25. Hall A. Rho GTPases and the actin cytoskeleton. Science 279 (1998) 509-514
26. Edwards C.M., and Mundy G.R. Eph receptors and ephrin signaling pathways: a role in bone homeostasis. Int. J. Med. Sci. 5 (2008) 263-272
27. Allan E.H., Hausler K.D., Wei T., Gooi J.H., Quinn J.M., Crimeen-Irwin B., et al. EphrinB2 regulation by PTH and PTHrP revealed by molecular profiling in differentiating osteoblasts. J. Bone Miner. Res. 23 (2008) 1170-1181
28. Tanabe S., Sato Y., Suzuki T., Suzuki K., Nagao T., and Yamaguchi T. Gene expression profiling of human mesenchymal stem cells for identification of novel markers in early- and late-stage cell culture. J. Biochem. 144 (2008) 399-408
29. + and cultured bone marrow mesenchymal stem cells in response to hypoxia. Stem Cells 25 (2007) 1003-1012
30. Zhao C., Irie N., Takada Y., Shimoda K., Miyamoto T., Nishiwaki T., et al. Bidirectional ephrinB2-EphB4 signaling controls bone homeostasis. Cell Metab. 4 (2006) 111-121
31. Lackmann M., Mann R.J., Kravets L., Smith F.M., Bucci T.A., Maxwell K.F., et al. Ligand for EPH-related kinase (LERK) 7 is the preferred high affinity ligand for the HEK receptor. J. Biol. Chem. 272 (1997) 16521-16530
32. Cerretti D.P., Vanden B.T., Nelson N., Kozlosky C.J., Reddy P., Maraskovsky E., et al. Isolation of LERK-5: a ligand of the eph-related receptor tyrosine kinases. Mol. Immunol. 32 (1995) 1197-1205
33. Kullander K., and Klein R. Mechanisms and functions of Eph and ephrin signalling. Nat. Rev. Mol. Cell Biol. 3 (2002) 475-486
34. Himanen J.P., Chumley M.J., Lackmann M., Li C., Barton W.A., Jeffrey P.D., et al. Repelling class discrimination: ephrin-A5 binds to and activates EphB2 receptor signaling. Nat. Neurosci. 7 (2004) 501-509
35. McBeath R., Pirone D.M., Nelson C.M., Bhadriraju K., and Chen C.S. Cell shape, cytoskeletal tension, and RhoA regulate stem cell lineage commitment. Dev. Cell 6 (2004) 483-495
36. Rauvala H., Huttunen H.J., Fages C., Kaksonen M., Kinnunen T., Imai S., et al. Heparin-binding proteins HB-GAM (pleiotrophin) and amphoterin in the regulation of cell motility. Matrix Biol. 19 (2000) 377-387
37. Fujita T., Azuma Y., Fukuyama R., Hattori Y., Yoshida C., Koida M., et al. Runx2 induces osteoblast and chondrocyte differentiation and enhances their migration by coupling with PI3K-Akt signaling. J. Cell. Biol. 166 (2004) 85-95
38. Lee S.U., Shin H.K., Min Y.K., and Kim S.H. Emodin accelerates osteoblast differentiation through phosphatidylinositol 3-kinase activation and bone morphogenetic protein-2 gene expression. Int. Immunopharmacol. 8 (2008) 741-747
39. Nakasaki M., Yoshioka K., Miyamoto Y., Sasaki T., Yoshikawa H., and Itoh K. IGF-I secreted by osteoblasts acts as a potent chemotactic factor for osteoblasts. Bone 43 (2008) 869-879
40. 3-induced anti-apoptotic PI3K/AKT signaling in osteoblasts. J. Bone Miner. Res. 23 (2008) 1238-1248
41. Young S.R., Gerard-O'Riley R., Kim J.B., and Pavalko F.M. Focal adhesion kinase is important for fluid shear stress induced mechanotransduction in osteoblasts. J. Bone Miner. Res. 24 (2009) 411-424
42. Zhao L.J., Liu X.G., Liu Y.Z., Liu Y.J., Papasian C.J., Shao B.Y., et al. Genome-wide association study for femoral neck bone geometry. J. Bone Miner. Res. (2009) Posted online 13 Jul