Genetic markers of bone metabolism and bone disease

References

• Smith D M, Nance W E, Kang K W, Christian J C, Johnston C C. Genetic factors in determining bone mass. J Clin Invest 1973; 52: 2800–2808
   PubMed Web of Science ®Google Scholar
• Kelly P J, Hopper J L, Macaskill G T, Pocock N A, Sambrook P N, Eisman J A. Genetic factors in bone turnover. J Clin Endocrinol Metab 1991; 72: 808–813
   PubMed Web of Science ®Google Scholar
• Kelly P J, Nguyen T, Hopper J, Pocock N, Sambrook P, Eisman J. Changes in axial bone density with age: a twin study. J Bone Miner Res 1993; 8: 11–17
   PubMed Web of Science ®Google Scholar
• Pocock N A, Eisman J A, Hopper J L, Yeates M G, Sambrook P N, Eberl S. Genetic determinants of bone mass in adults: a twin study. J Clin Invest 1987; 80: 706–710
   PubMed Web of Science ®Google Scholar
• Fotino M, Haymovits A, Falk C T. Evidence for linkage between HLA and Paget's disease. Transplant Proc 1977; 9: 1876–1868
   Web of Science ®Google Scholar
• Soroko S B, Barret-Connor E, Edelstein S L, Kritz-Silverstein D. Family history of osteoporosis and bone mineral density at the axial skeleton: The Rancho Bernardo study. J Bone Miner Res 1994; 9: 761–769
   PubMed Web of Science ®Google Scholar
• Gueguen R, Jouanny P, Guillemin F, Kuntz C, Pourel J, Siest G. Segregation analysis and variance components analysis of bone mineral density in healthy families. J Bone Miner Res 1995; 12: 2017–2022
   Google Scholar
• Lander E S, Schork N J. Genetic dissection of complex traits. Science 1994; 265: 2037–2048
   PubMed Web of Science ®Google Scholar
• Morrison N A, Yeoman R, Kelly P J, Eisman J A. Contribution of trans-acting factor alleles to normal physiological variability: Vitamin D receptor gene polymorphisms and circulating osteocalcin. Proc Natl Acad Sci USA 1992; 89: 6665–6669
   PubMed Web of Science ®Google Scholar
• Morrison N A, Qi J C, Tokita A, Kelly P, Crofts L, Nguyen T V, et al. Prediction of bone density from vitamin D receptor alleles. Nature 1994; 367: 284–287
   PubMed Web of Science ®Google Scholar
• Eisman J A. Vitamin D receptor gene alleles and osteoporosis: an affirmative view. J Bone Miner Res 1995; 10: 1289–1293
   PubMed Web of Science ®Google Scholar
• Peacock M. Vitamin D receptor gene alleles and osteoporosis: a contrasting view. J Bone Miner Res 1995; 10: 1294–1297
   PubMed Web of Science ®Google Scholar
• Uitterlinden A G, Pols H AP, van Daele P LA, Algra D, Hofman A, Birkenhager J C, et al. Vitamin D receptor genotype is associated with bone mineral density in humans. Calcif Tiss Int 1995; 56: 474, (abstract)
   Google Scholar
• Minamitani K, Takahashi Y, Minagawa M, Someya T, Watanabe T, Yasuda T, et al. Exon 2 polymorphism in the human vitamin D receptor gene is a predictor of peak bone mineral density. Journal of Bone & Mineral Research 1996; 11: 207, (Suppl 1)
   Google Scholar
• Smith E P, Boyd J, Frank G R, Takahashi H, Cohen R M, Specker B, et al. Estrogen resistance caused by a mutation in the estrogen- receptor gene in a man. N Engl J Med 1994; 331: 1056–1061
   PubMed Web of Science ®Google Scholar
• Kobayashi S, Inoue S, Hosoi T, Ouchi Y, Shiraki M, Orimo H. Association of bone mineral density with polymorphism of the estrogen receptor gene. J Bone Miner Res 1996; 11: 306–311
   PubMed Web of Science ®Google Scholar
• Sano M, Inoue S, Hosoi T, Ouchi Y, Emi M, Shiraki M, et al. Association of estrogen receptor dinucleotide repeat polymorphism with osteoporosis. Biochemical & Biophysical Research Communications 1995; 217: 378–383
   PubMed Web of Science ®Google Scholar
• Oi J C, Morrison N A, Nguyen T V, White C P, Kelly P J, Sambrook P N, et al. Estrogen receptor genotypes and bone mineral density in women and men. J Bone Miner Res 1995; 10: 170, (Suppl 1)
   Web of Science ®Google Scholar
• Keen R W, Woodford-Richens K L, Lanchbury J S, Spector T D. Peak bone mass, early postmenopausal bone loss and polymorphism at the oestrogen receptor gene. Osteoporosis Int 1996; 6: 102, (Suppl 1)
   Google Scholar
• Murray R E, Grant S FA, Reid D M, Ralston S H. Polymorphisms of the interleukin-6 gene are associated with bone mineral density. Osteoporosis Int 1996; 6: 89, (Suppl 1)
   Google Scholar
• Knudsen J Y, Langdahl B L, Jensen H K, Gregersen N, Eriksen E F. Mutations in the transforming growth factor beta gene are correlated to very low bone mass in osteoporosis. Bone 1995; 16: 84S, (abstract)
   Google Scholar
• Rowe D W. Osteogenesis Imperfecta. Bone and Mineral Research, J NM Heersche, J A Kanis. Elsevier, Amsterdam 1991; 209–241
   Google Scholar
• Spotila L D, Colige A, Sereda L, Constantinou-Deltas C D, Whyte M P, Riggs B L, et al. Mutation analysis of coding sequences for type I procollagen in individuals with low bone density. J Bone Miner Res 1994; 9: 923–932
   PubMed Web of Science ®Google Scholar
• Grant S FA, Reid D M, Blake G, Herd R, Fogelman I, Ralston S H. Reduced bone density and osteoporosis associated with a polymorphic Spl site in the collagen type I alpha 1 gene. Nature Genetics 1996; 14: 203–205
   PubMed Web of Science ®Google Scholar
• Uitterlinden A G, Grant S FA, Huang Q, Burger H, van Leeuwen J PTM, Pols H AP, et al. Spl binding site polymorphism in the COLIA1 gene is associated with BMD: The Rotterdam study. Osteoporosis Int 1996; 6: 124, (Suppl. 1)
   Google Scholar
• Carling T, Kindmark A, Hellman P, Lundgren E, Ljunghall S, Rastad J, et al. Vitamin D receptor genotypes in primary hyperparathyroidism. Nature Medicine 1995; 1: 1309–1311
   PubMed Web of Science ®Google Scholar
• Haslam S I, Thomson J MG, Haites N E, Ralston S H. Genetic mapping in Paget's disease of bone: evidence for a susceptibility locus on chromosome 18q. J Bone Miner Res 1996; 11: 369, (Suppl 1): (abstract)
   Web of Science ®Google Scholar
• Hui S L, Slemenda C W, Johnston C C. Baseline measurement of bone mass predicts fracture in white women. Ann Intern Med 1989; 111: 355–361
   PubMed Web of Science ®Google Scholar
• Cummings S R, Black D M, Nevitt M C, Browner W, Cauley J, Ensrud K, et al. Bone density at various sites for prediction of hip fractures. The Study of Osteoporotic Fractures Research Group [see comments]. Lancet 1993; 341: 72–75
   PubMed Web of Science ®Google Scholar
• Marshall D, Johnell O, Wedel H. Meta-analysis of how well measures of bone mineral density predict occurrence of osteoporotic fractures. Br Med J 1996; 312: 1254–1259
   PubMed Web of Science ®Google Scholar
• van Daele P L, Seibel M J, Burger H, Hofman A, Grobbee D E, van Leeuwen, et al. Case-control analysis of bone resorption markers, disability, and hip fracture risk: the Rotterdam study. Br Med J 1996; 312: 482–483
   PubMed Web of Science ®Google Scholar
• Delmas P D. Biochemical markers of bone turnover. J Bone Miner Res 1993; 8: S549–S555, (Suppl. 2)
   PubMed Web of Science ®Google Scholar
• Davies J L, Kawaguchi Y, Bennett S T, Copeman J B, Cordell H J, Pritchard, et al. A genome-wide search for human type 1 diabetes susceptibility genes. Nature 1994; 371: 130–136
   PubMed Web of Science ®Google Scholar
• Hugot J P, Laurent-Puig P, Gower-Rousseau C, Olson, Lee J C, Beaugerie L, et al. Mapping of a susceptibility locus for Crohn's disease on chromosome 16. Nature 1996; 379: 821–823
   PubMed Web of Science ®Google Scholar
• Daniels S E, Bhattacharrya S, James A, Leaves N I, Young A, Hill M R, et al. A genome-wide search for quantitative trait loci underlying asthma. Nature 1996; 383: 247–250
   PubMed Web of Science ®Google Scholar
• Hamer D H, Hu S, Magnuson V L, Hu N, Pattatucci A M. A linkage between DNA markers on the X chromosome and male sexual orientation. Science 1993; 261: 321–327
   PubMed Web of Science ®Google Scholar
• Marsh D G, Neely J D, Breazeale D R, Ghosh B, Freidhoff L R, Ehrlich-Kautzky E, et al. Linkage analysis of IL4 and other chromosome 5q31.1 markers and total serum immunoglobulin E concentrations. Science 1994; 264: 1152–1156
   PubMed Web of Science ®Google Scholar
• Sandford A J, Shirakawa T, Moffatt M F, Daniels S E, Ra C, Faux J A, et al. Localisation of atopy and beta subunit of high-affinity IgE receptor (Fc epsilon RI) on chromosome 1 lq [see comments]. Lancet 1993; 341: 332–334
   PubMed Web of Science ®Google Scholar
• Wordsworth B P, Lanchbury J S, Sakkas L I, Welsh K I, Panayi G S, Bell J I. HLA-DR4 subtype frequencies in rheumatoid arthritis indicate that DRB1 is the major susceptibility locus within the HLA class II region. Proceedings of the National Academy of Sciences of the United States of America 1989; 86: 10049–10053
   PubMed Web of Science ®Google Scholar
• McMichael A, Bell J. HLA B27: a disease-associated immune response gene. Research in Immunology 1991; 142: 475–482
   PubMedGoogle Scholar
• Ebstein R P, Novick O, Umansky R, Priel B, Osher Y, Blaine D, et al. Dopamine D4 receptor (D4DR) exon III polymorphism associated with the human personality trait of Novelty Seeking. Nature Genetics 1996; 12: 78–80
   PubMed Web of Science ®Google Scholar
• Kamboh M I, Sanghera D K, Ferrell R E, DeKosky S T. APOE*4-associated Alzheimer's disease risk is modified by alpha 1-antichymotrypsin polymorphism. Nature Genetics 1995; 10: 486–488
   PubMed Web of Science ®Google Scholar
• Ducy P, Desbois C, Boyce B, Pinero G, Story B, Dunstan C, et al. Increased bone formation in osteocalcin deficient mice. Nature 1996; 382: 448–452
   PubMed Web of Science ®Google Scholar
• Gelb B D, Shi G P, Chapman H A, Desnick R J. Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science 1996; 273: 1236–1238
   PubMed Web of Science ®Google Scholar
• Blanchette V S, Sparling C, Turner C. Inherited bleeding disorders. Baillieres Clinical Haematology 1991; 4: 291–332
   PubMedGoogle Scholar
• Pollak M R, Brown E M, Chou Y H, Hebert S C, Marx S J, Steinmann B, et al. Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 1993; 75: 1297–1303
   PubMed Web of Science ®Google Scholar