Assessment of linkage and association of 13 genetic loci with bone mineral density

Journal of Bone and Mineral Metabolism

Volumn 24, Issue 3, 2006, Pages 226-234

  Lau, Helen H L ^a   Ng, Mandy Y M ^a   Cheung, William M W ^a   Paterson, Andrew D ^b,d   Sham, Pak C ^a,c   Luk, Keith D K ^a   Chan, Vivian ^a   Kung, Annie W C ^a  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c KING'S COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY OF TORONTO   (Canada)

Author keywords

Association; BMD; Candidate genes; Linkage

Indexed keywords

CALCIUM SENSING RECEPTOR; COLLAGEN TYPE 1; ESTROGEN RECEPTOR ALPHA; ESTROGEN RECEPTOR BETA; LOW DENSITY LIPOPROTEIN; VITAMIN D RECEPTOR;

ADULT; ALLELE; ARTICLE; BONE DENSITY; CONTROLLED STUDY; EVALUATION; FEMALE; FEMUR NECK; GENE IDENTIFICATION; GENE LOCUS; GENETIC LINKAGE; GENETIC POLYMORPHISM; HIP; HUMAN; MALE; NORMAL HUMAN; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SPINE;

ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; BONE DENSITY; COLLAGEN TYPE I; ESTROGEN RECEPTOR ALPHA; ESTROGEN RECEPTOR BETA; FEMALE; GENE FREQUENCY; HUMANS; LDL-RECEPTOR RELATED PROTEINS; LINKAGE (GENETICS); MALE; MIDDLE AGED; PEDIGREE; POLYMORPHISM, GENETIC; RECEPTORS, CALCITRIOL; RECEPTORS, CALCIUM-SENSING; TRANSFORMING GROWTH FACTOR BETA;

EID: 33645857079     PISSN: 09148779     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00774-005-0676-6     Document Type: Article

References (45)

1. SR Cummings LJ Melton 2002 Epidemiology and outcomes of osteoporotic fractures Lancet 359 1761 1767
2. CW Slemenda JC Christian CJ Williams JA Norton CC Johnston Jr 1991 Genetic determinants of bone mass in adult women: a reevaluation of the twin model and the potential importance of gene interaction on heritability estimates J Bone Miner Res 6 561 567
3. R Gueguen P Jouanny F Guillemin C Kuntz J Pourel G Siest 1995 Segregation analysis and variance components analysis of bone mineral density in healthy families J Bone Miner Res 10 2017 2022
4. OM Albagha SH Ralston 2003 Genetic determinants of susceptibility to osteoporosis Endocrinol Metab Clin North Am 32 65 81
5. DL Koller LA Rodriguez JC Christian CW Slemenda MJ Econs SL Hui P Morin PM Conneally G Joslyn ME Curran M Peacock CC Johnston T Foroud 1998 Linkage of a QTL contributing to normal variation in bone mineral density to chromosome 11q12-13 J Bone Miner Res 13 1903 1908
6. DL Koller MJ Econs PA Morin JC Christian SL Hui P Parry ME Curran LA Rodriguez PM Conneally G Joslyn M Peacock CC Johnston T Foroud 2000 Genome screen for QTLs contributing to normal variation in bone mineral density and osteoporosis J Clin Endocrinol Metab 85 3116 3120
7. EL Duncan MA Brown J Sinsheimer J Bell AJ Carr BP Wordsworth JA Wass 1999 Suggestive linkage of the parathyroid receptor type 1 to osteoporosis J Bone Miner Res 14 1993 1999
8. HW Deng FH Xu T Conway XT Deng JL Li KM Davies H Deng M Johnson RR Recker 2001 Is population bone mineral density variation linked to the marker D11S987 on chromosome 11q12-13? J Clin Endocrinol Metab 86 3735 3741
9. D Karasik RH Myers LA Cupples MT Hannan DR Gagnon A Herbert DP Kiel 2002 Genome screen for quantitative trait loci contributing to normal variation in bone mineral density: the Framingham Study J Bone Miner Res 17 1718 1727
10. CM Kammerer JL Schneider SA Cole JE Hixson PB Samollow JR O'Connell R Perez TD Dyer L Almasy J Blangero RL Bauer BD Mitchell 2003 Quantitative trait loci on chromosomes 2p, 4p, and 13q influence bone mineral density of the forearm and hip in Mexican Americans J Bone Miner Res 18 2245 2252
11. SG Wilson PW Reed A Bansal M Chiano M Lindersson M Langdown RL Prince D Thompson E Thompson M Bailey PW Kleyn P Sambrook MM Shi TD Spector 2003 Comparison of genome screens for two independent cohorts provides replication of suggestive linkage of bone mineral density to 3p21 and 1p36 Am J Hum Genet 72 144 155
12. MJ Econs DL Koller SL Hui T Fishburn PM Conneally CC Johnston Jr M Peacock TM Foroud 2004 Confirmation of linkage to chromosome 1q for peak vertebral bone mineral density in premenopausal white women Am J Hum Genet 74 223 228
13. SH Ralston N Galwey I Mackey OM Albagha L Cardon JE Compston C Cooper E Duncan R Keen B Langdahl A [tmp] McLellan J O'Riordan HA Pols DM Reid AG Uitterlinden J Wass ST Bennett 2005 Loci for regulation of bone mineral density in men and women identified by genome wide linkage scan: the FAMOS Study Hum Mol Genet 14 943 951
14. M Devoto LD Spotila DL Stabley GN Wharton H Rydbeck J Korkko R Kosich D Prockop A Tenenhouse K Sol-Church 2005 Univariate and bivariate variance component linkage analysis of a whole-genome scan for loci contributing to bone mineral density Eur J Hum Genet 13 6 781 788
15. N Risch K Merikangas 1996 The future of genetic studies of complex human diseases Science 273 1516 1517
16. RS Spielman RE [tmp] McGinnis WJ Ewens 1993 Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM) Am J Hum Genet 52 506 516
17. GR Abecasis WO Cookson LR Cardon 2000 Pedigree tests of transmission disequilibrium Eur J Hum Genet 8 545 551
18. GR Abecasis LR Cardon WO Cookson 2000 A general test of association for quantitative traits in nuclear families Am J Hum Genet 66 279 292
19. J Mei SS Yeung AW Kung 2001 High dietary phytoestrogen intake is associated with higher bone mineral density in postmenopausal but not premenopausal women J Clin Endocrinol Metab 86 5217 5221
20. AWC Kung SCC Yeung KS Lau 1998 Vitamin D receptor gene polymorphisms and peak bone mass in southern Chinese women Bone 22 389 393
21. AWC Kung KDK Luk LW Chu CWK Tang 1999 Quantitative ultrasound and sympotomatic vertebral fracture risk in Chinese women Osteoporos Int 10 456 461
22. AWC Kung AYY Ho PD Ross JY Reginster 2005 Development of a clinical assessment tool in identifying Asian men with low bone mineral density and comparison of its usefulness to quantitative bone ultrasound Osteoporos Int (Epub ahead of print) 16 849 855
23. K Tsukamoto H Orimo T Hosoi M Miyao N Ota T Nakajima H Yoshida S Watanabe T Suzuki M Emi 2000 Association of bone mineral density with polymorphism of the human calcium-sensing receptor locus Calcif Tissue Int 66 181 183
24. N Garcia-Giralt X Nogues A Enjuanes J Puig L Mellibovsky A Bay-Jensen R Carreras S Balcells A Diez-Perez D Grinberg 2002 Two new single-nucleotide polymorphisms in the COL1A1 upstream regulatory region and their relationship to bone mineral density J Bone Miner Res 17 384 393
25. S Kobayashi S Inoue T Hosoi Y Ouchi M Shiraki H Orimo 1996 Association of bone mineral density with polymorphism of the estrogen receptor gene J Bone Miner Res 11 306 311
26. C Sundarrajan WX Liao AC Roy SC Ng 2001 Association between estrogen receptor-beta gene polymorphisms and ovulatory dysfunctions in patients with menstrual disorders J Clin Endocrinol Metab 86 135 139
27. HHL Lau AYY Ho KDK Luk AWC Kung 2002 Estrogen receptor β gene polymorphisms are associated with higher bone mineral density in premenopausal, but not postmenopausal southern Chinese women Bone 31 276 281
28. S Ogawa T Hosoi M Shiraki H Orimo M Emi M Muramatsu Y Ouchi S Inoue 2000 Association of estrogen receptor β gene polymorphism with bone mineral density Biochem Biophys Res Commun 269 537 541
29. M Okubo A Horinishi DH Kim TT Yamamoto T Murase 2002 Seven novel sequence variants in the human low density lipoprotein receptor related protein 5 (LRP5) gene Hum Mutat 19 186 188
30. E Ziv A Kahn J Cauley P Morin R Saiz W Browner 2003 No association between the TGF-beta 1 Leu10Pro polymorphism and osteoporosis among white women in the United States Am J Med 114 227 231
31. C Gross TR Eccleshall PJ Malloy ML Villa R Marcus D Feldman 1996 The presence of a polymorphism at the translation initiation site of the vitamin D receptor gene is associated with low bone mineral density in postmenopausal Mexican-American women J Bone Miner Res 11 1850 1855
32. GR Abecasis SS Cherny WO Cookson LR Cardon 2002 Merlin - rapid analysis of dense genetic map using sparse gene flow trees Nat Genet 30 97 101
33. LM [tmp] McIntyre ER Martin KL Simonsen NL Kaplan 2000 Circumventing multiple testing: a multilocus Monte Carlo approach to testing for association Genet Epidemiol 19 18 29
34. M Sano S Inoue T Hosoi Y Ouchi M Emi M Shiraki H Orimo 1995 Association of estrogen receptor dinucleotide repeat polymorphism with osteoporosis Biochem Biophys Res Commun 217 378 383
35. OM Albagha FE [tmp] McGuigan DM Reid SH Ralston 2001 Estrogen receptor alpha gene polymorphisms and bone mineral density: haplotype analysis in women from the United Kingdom J Bone Miner Res 16 128 134
36. YJ Qin H Shen QR Huang LJ Zhao Q Zhou MX Li JW He XY Mo JH Lu RR Recker HW Deng 2003 Estrogen receptor alpha gene polymorphisms and peak bone density in Chinese nuclear families J Bone Miner Res 18 1028 1035
37. S Khosla BL Riggs EJ Atkinson AL Oberg C Mavilia F Del Monte LJ Melton 3rd ML Brandi 2004 Relationship of estrogen receptor genotypes to bone mineral density and to rates of bone loss in men J Clin Endocrinol Metab 89 1808 1816
38. JP Ioannidis I Stavrou TA Trikalinos C Zois ML Brandi L Gennari O Albagha SH Ralston A Tsatsoulis 2002 ER-alpha genetics meta-analysis association of polymorphisms of the estrogen receptor alpha gene with bone mineral density and fracture risk in women: a meta-analysis J Bone Miner Res 17 2048 2060
39. JP Ioannidis SH Ralston ST Bennett ML Brandi D Grinberg 2004 Differential genetic effects of ESR1 gene polymorphisms on osteoporosis outcomes JAMA 292 2105 2114
40. B Arko J Prezelj R Komel A Kocijancic J Marc 2002 No major effect of estrogen receptor beta gene RsaI polymorphism on bone mineral density and response to alendronate therapy in postmenopausal osteoporosis J Steroid Biochem Mol Biol 81 147 152
41. AM Shearman D Karasik KM Gruenthal S Demissie LA Cupples DE Housman DP Kiel 2004 Estrogen receptor beta polymorphisms are associated with bone mass in women and men: the Framingham Study J Bone Miner Res 19 773 781
42. LJ Zhao PY Liu JR Long Y Lu FH Xu YY Zhang H Shen P Xiao L Elze RR Recker HW Deng 2004 Test of linkage and/or association between the estrogen receptor alpha gene with bone mineral density in Caucasian nuclear families Bone 35 395 402
43. DM Herrington TD Howard KB Brosnihan DP [tmp] McDonnell X Li GA Hawkins DM Reboussin J Xu SL Zheng DA Meyers ER Bleecker 2002 Common estrogen receptor polymorphism augments effects of hormone replacement therapy on E-selectin but not C-reactive protein Circulation 105 1879 1882
44. E Enmark M Pelto-Huikko K Grandien S Lagercrantz J Lagercrantz G Fried M Nordenskjold JA Gustafsson 1997 Human estrogen receptor beta-gene structure, chromosomal localization, and expression pattern J Clin Endocrinol Metab 82 4258 4265
45. HW Deng FH Xu QY Huang H Shen H Deng T Conway YZ Liu JL Li HT Zhang KM Davies RR Recker 2002 A whole-genome linkage scan suggests several genomeic regions potentially containing quantitative trait loci for osteoporosis J Clin Endocrinol Metab 87 5151 5159