Mapping genes for osteoporosis-Old dogs and new tricks

Bone

Volumn 46, Issue 5, 2010, Pages 1219-1225

  Duncan, Emma L ^a   Brown, Matthew A ^a  

^a PRINCESS ALEXANDRA HOSPITAL   (Australia)

Author keywords

Association; Bone; Genetics; Sequencing; SNP

Indexed keywords

GENE PRODUCT; INTERLEUKIN 23 RECEPTOR; LACTASE; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN 5; OSTEOCLAST DIFFERENTIATION FACTOR; PROTEIN ESR1; UNCLASSIFIED DRUG;

BONE DENSITY; COPY NUMBER VARIANT; ETHNICITY; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENE TECHNOLOGY; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; NONHUMAN; OSTEOPOROSIS; POLYMERASE CHAIN REACTION; REVIEW; SAMPLE SIZE; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ANIMALS; BONE DENSITY; CHROMOSOME MAPPING; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; OSTEOPOROSIS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 77951253689     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2009.12.035     Document Type: Review

References (48)

1. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007, 447:661-678. WTCCC.
2. Obermayer-Pietsch B.M., Bonelli C.M., Walter D.E., Kuhn R.J., Fahrleitner-Pammer A., Berghold A., et al. Genetic predisposition for adult lactose intolerance and relation to diet, bone density, and bone fractures. J. Bone Miner. Res. 2004, 19:42-47.
3. Rivadeneira F., Styrkarsdottir U., Estrada K., Halldorsson B.V., Hsu Y.H., Richards J.B., et al. Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. Nat. Genet. 2009, 41:1199-1206.
4. Cardin N., Vukcevic D., Pearson R., Donnelly P., Marcini J. A Bayesian hierarchical clustering algorithm for CNV data: application to the WTCCC CNV experiment. 59th Annual Meeting of The American Society of Human Genetics. Honolulu, Hawaii 2009, Abst. 295.
5. Kaminsky Z.A., Tang T., Wang S.C., Ptak C., Oh G.H., Wong A.H., et al. DNA methylation profiles in monozygotic and dizygotic twins. Nat. Genet. 2009, 41:240-245.
6. Marchini J., Donnelly P., Cardon L.R. Genome-wide strategies for detecting multiple loci that influence complex diseases. Nat. Genet. 2005, 37:413-417.
7. Ng S.B., Turner E.H., Robertson P.D., Flygare S.D., Bigham A.W., Lee C., et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 2009, 461:272-276.
8. Boyden L., Mao J., Belsky J., Mitzner L., Farhi A., Mitnick M., et al. High bone density due to a mutation in LDL-receptor-related protein 5. N. Engl. J. Med. 2002, 346:1513-1521.
9. Little R.D., Carulli J.P., Del Mastro R.G., Dupuis J., Osborne M., Folz C., et al. A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait. Am. J. Hum. Genet. 2002, 70:11-19.
10. Balemans W., Patel N., Ebeling M., Van Hul E., Wuyts W., Lacza C., et al. Identification of a 52-kb deletion downstream of the SOST gene in patients with van Buchem disease. J. Med. Genet. 2002, 39:91-97.
11. Staehling-Hampton K., Proll S., Paeper B.W., Zhao L., Charmley P., Brown A., et al. A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population. Am. J. Med. Genet. 2002, 110:144-152.
12. Uitterlinden A.G., Arp P., Paeper B., Charmley P., Proll S., Rivadeneira F., et al. Polymorphisms in the sclerosteosis/van Buchem disease gene (SOST) region are associated with bone-mineral density in elderly whites. Am. J. Hum. Genet. 2004, 75:1032-1045.
13. Sims A.M., Shephard N., Carter K., Doan T., Dowling A., Duncan E.L., et al. Genetic analyses in a sample of individuals with high or low bone density demonstrates association with multiple Wnt pathway genes. J. Bone Miner. Res. 2007, 23:499-506.
14. Ferrari S.L., Deutsch S., Choudhury U., Chevalley T., Bonjour J.P., Dermitzakis E.T., et al. Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites. Am. J. Hum. Genet. 2004, 74:866-875.
15. Koay M.A., Woon P.Y., Zhang Y., Miles L.J., Duncan E.L., Ralston S.H., et al. Influence of LRP5 polymorphisms on normal variation in BMD. J. Bone Miner. Res. 2004, 19:1619-1627.
16. Koh J.M., Jung M.H., Hong J.S., Park H.J., Chang J.S., Shin H.D., et al. Association between bone mineral density and LDL receptor-related protein 5 gene polymorphisms in young Korean men. J. Korean Med. Sci. 2004, 19:407-412.
17. Brown M.A. Genetic studies of osteoporosis-a rethink required. Calcif. Tissue Int. 2005, 76:319-325.
18. Deng H.W., Deng H., Liu Y.J., Liu Y.Z., Xu F.H., Shen H., et al. A genomewide linkage scan for quantitative-trait loci for obesity phenotypes. Am. J. Hum. Genet. 2002, 70:1138-1151.
19. Herbert A., Gerry N.P., McQueen M.B., Heid I.M., Pfeufer A., Illig T., et al. A common genetic variant is associated with adult and childhood obesity. Science 2006, 312:279-283.
20. Cho Y.S., Go M.J., Kim Y.J., Heo J.Y., Oh J.H., Ban H.J., et al. A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits. Nat. Genet. 2009, 41:527-534.
21. Cargill M., Schrodi S., Chang M., Garcia V., Brandon R., Callis K., et al. A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes. Am. J. Hum. Genet. 2007, 80:273-290.
22. Duerr R.H., Taylor K.D., Brant S.R., Rioux J.D., Silverberg M.S., Daly M.J., et al. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science 2006, 314:1461-1463.
23. Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat. Genet. 2007, 39:1329-1337. WTCCC, TASCTASC.
24. Davidson S., Wu X., Liu Y., Wei M., Danoy P., Duncan E.L., et al. Association of ERAP1, but not IL23R, with ankylosing spondylitis in a Han Chinese population. Arthritis Rheum 2009, 60:3263-3268.
25. Zhang X.J., Huang W., Yang S., Sun L.D., Zhang F.Y., Zhu Q.X., et al. Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21. Nat. Genet. 2009, 41:205-210.
26. Yamazaki K., Onouchi Y., Takazoe M., Kubo M., Nakamura Y., Hata A. Association analysis of genetic variants in IL23R, ATG16L1 and 5p13.1 loci with Crohn's disease in Japanese patients. J. Hum. Genet. 2007, 52:575-583.
27. Keating B.J., Tischfield S., Murray S.S., Bhangale T., Price T.S., Glessner J.T., et al. Concept, design and implementation of a cardiovascular gene-centric 50-k SNP array for large-scale genomic association studies. PLoS One 2008, 3:e3583.
28. Thorleifsson G., Holm H., Edvardsson V., Walters G.B., Styrkarsdottir U., Gudbjartsson D.F., et al. Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density. Nat. Genet. 2009, 41:926-930.
29. Torkamani A., Schork N.J. Pathway and network analysis with high-density allelic association data. Methods Mol. Biol. 2009, 563:289-301.
30. Styrkarsdottir U., Halldorsson B.V., Gretarsdottir S., Gudbjartsson D.F., Walters G.B., Ingvarsson T., et al. New sequence variants associated with bone mineral density. Nat. Genet. 2009, 41:15-17.
31. Timpson N.J., Tobias J.H., Richards J.B., Soranzo N., Duncan E.L., Sims A.M., et al. Common variants in the region around Osterix are associated with bone mineral density and growth in childhood. Hum. Mol. Genet. 2009, 18:1510-1517.
32. Nakashima K., Zhou X., Kunkel G., Zhang Z., Deng J.M., Behringer R.R., et al. The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation. Cell 2002, 108:17-29.
33. Ioannidis J.P., Ralston S.H., Bennett S.T., Brandi M.L., Grinberg D., Karassa F.B., et al. Differential genetic effects of ESR1 gene polymorphisms on osteoporosis outcomes. JAMA 2004, 292:2105-2114.
34. van Meurs J.B., Trikalinos T.A., Ralston S.H., Balcells S., Brandi M.L., Brixen K., et al. Large-scale analysis of association between LRP5 and LRP6 variants and osteoporosis. JAMA 2008, 299:1277-1290.
35. Langdahl B.L., Uitterlinden A.G., Ralston S.H., Trikalinos T.A., Balcells S., Brandi M.L., et al. Large-scale analysis of association between polymorphisms in the transforming growth factor beta 1 gene (TGFB1) and osteoporosis: the GENOMOS study. Bone 2008, 42:969-981.
36. Uitterlinden A.G., Ralston S.H., Brandi M.L., Carey A.H., Grinberg D., Langdahl B.L., et al. The association between common vitamin D receptor gene variations and osteoporosis: a participant-level meta-analysis. Ann. Intern. Med. 2006, 145:255-264.
37. Ralston S.H., Uitterlinden A.G., Brandi M.L., Balcells S., Langdahl B.L., Lips P., et al. Large-scale evidence for the effect of the COLIA1 Sp1 polymorphism on osteoporosis outcomes: the GENOMOS study. PLoS Med. 2006, 3:e90.
38. Vilarino-Guell C., Brown M.A. Bigger is better, but it's not just size that counts: the estrogen receptor gene and osteoporosis. BoneKEy-Osteovision 2005, 2:14-20.
39. Thompson E.E., Sun Y., Nicolae D., Ober C. Shades of gray: a comparison of linkage disequilibrium between Hutterites and Europeans. Genet. Epidemiol. 2009, [Epub ahead of print].
40. Van Hout C.V., Levin A.M., Rampersaud E., Shen H., O'Connell J.R., Mitchell B.D., et al. Extent and distribution of linkage disequilibrium in the Old Order Amish. Genet. Epidemiol. 2009, [Epub ahead of print].
41. Navarro P., Vitart V., Hayward C., Tenesa A., Zgaga L., Juricic D., et al. Genetic comparison of a Croatian isolate and CEPH European founders. Genet. Epidemiol. 2009, [Epub ahead of print].
42. Styrkarsdottir U., Halldorsson B.V., Gretarsdottir S., Gudbjartsson D.F., Walters G.B., Ingvarsson T., et al. Multiple genetic loci for bone mineral density and fractures. N. Engl. J. Med. 2008, 358:2355-2365.
43. Richards J.B., Rivadeneira F., Inouye M., Pastinen T.M., Soranzo N., Wilson S.G., et al. Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study. Lancet 2008, 371:1505-1512.
44. Klein R.F., Allard J., Avnur Z., Nikolcheva T., Rotstein D., Carlos A.S., et al. Regulation of bone mass in mice by the lipoxygenase gene Alox15. Science 2004, 303:229-232.
45. Ichikawa S., Koller D.L., Johnson M.L., Lai D., Xuei X., Edenberg H.J., et al. Human ALOX12, but not ALOX15, is associated with BMD in white men and women. J. Bone Miner. Res. 2006, 21:556-564.
46. Price A.L., Tandon A., Patterson N., Barnes K.C., Rafaels N., Ruczinski I., et al. Sensitive detection of chromosomal segments of distinct ancestry in admixed populations. PLoS Genet. 2009, 5:e1000519.
47. Shaffer J.R., Kammerer C.M., Reich D., McDonald G., Patterson N., Goodpaster B., et al. Genetic markers for ancestry are correlated with body composition traits in older African Americans. Osteoporos. Int. 2007, 18:733-741.
48. Nejentsev S., Walker N., Riches D., Egholm M., Todd J.A. Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science 2009, 324:387-389.