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IL21R and PTH may underlie variation of femoral neck bone mineral density as revealed by a genome-wide association study
Article first published online: 14 DEC 2009
DOI: 10.1359/jbmr.091040
Copyright © 2010 American Society for Bone and Mineral Research
Additional Information
How to Cite
Guo, Y., Zhang, L.-S., Yang, T.-L., Tian, Q., Xiong, D.-H., Pei, Y.-F. and Deng, H.-W. (2010), IL21R and PTH may underlie variation of femoral neck bone mineral density as revealed by a genome-wide association study. J Bone Miner Res, 25: 1042–1048. doi: 10.1359/jbmr.091040
Publication History
- Issue published online: 30 APR 2010
- Article first published online: 14 DEC 2009
- Accepted manuscript online: 27 JAN 2010 12:00AM EST
- Manuscript Accepted: 22 OCT 2009
- Manuscript Revised: 12 JUL 2009
- Manuscript Received: 27 MAR 2009
References
- 1, Epidemiology and outcomes of osteoporotic fractures. Lancet. 2002; 359: 1761–1767.
- 2, , , Medical expenditures for the treatment of osteoporotic fractures in the United States in 1995: report from the National Osteoporosis Foundation. J Bone Miner Res. 1997; 12: 24–35.Direct Link:
- 3, , , et al. Predictive value of BMD for hip and other fractures. J Bone Miner Res. 2005; 20: 1185–1194.Direct Link:
- 4, , , et al. The use of clinical risk factors enhances the performance of BMD in the prediction of hip and osteoporotic fractures in men and women. Osteoporos Int. 2007; 18: 1033–1046.
- 5, , , , , A reference standard for the description of osteoporosis. Bone. 2008; 42: 467–475.
- 6, , , , The heritability of bone mineral density, ultrasound of the calcaneus and hip axis length: a study of postmenopausal twins. J Bone Miner Res. 1996; 11: 530–534.Direct Link:
- 7, , , , , Heritability of BMD of femoral neck and lumbar spine: a multivariate twin study of Finnish men. J Bone Miner Res. 2007; 22: 1455–1462.Direct Link:
- 8, , , , , Molecular genetic studies of gene identification for osteoporosis. Expert Rev. Endocrinol. Metab. 2008; 3: 223–267.
- 9, , , et al. Differential genetic effects of ESR1 gene polymorphisms on osteoporosis outcomes. JAMA. 2004; 292: 2105–2114.
- 10, , , et al. Large-scale evidence for the effect of the COLIA1 Sp1 polymorphism on osteoporosis outcomes: the GENOMOS study. PLoS Med. 2006; 3: e90.
- 11, , , et al. The association between common vitamin D receptor gene variations and osteoporosis: a participant-level meta-analysis. Ann Intern Med. 2006; 145: 255–64.
- 12, , , et al. Large-scale analysis of association between LRP5 and LRP6 variants and osteoporosis. JAMA. 2008; 299: 1277–1290.
- 13, , , et al. Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study. Lancet. 2008; 371: 1505–1512.
- 14, , , et al. Multiple genetic loci for bone mineral density and fractures. N Engl J Med. 2008; 358: 2355–2365.
- 15, , , , , Genome-wide association with bone mass and geometry in the Framingham Heart Study. BMC Med Genet. 2007; 8: S14.
- 16, , , et al. Association of the aromatase gene alleles with bone mineral density: epidemiological and functional evidence. J Bone Miner Res. 2009.Direct Link:
- 17, , , et al. New sequence variants associated with bone mineral density. Nat Genet. 2009; 41: 15–7.
- 18, , , et al. Genome-wide association and follow-up replication studies identified ADAMTS18 and TGFBR3 as bone mass candidate genes in different ethnic groups. Am J Hum Genet. 2009.
- 19, , , et al. Relevance of the genes for bone mass variation to susceptibility to osteoporotic fractures and its implications to gene search for complex human diseases. Genet Epidemiol. 2002; 22: 12–25.Direct Link:
- 20, , , et al. The Framingham Heart Study 100K SNP genome-wide association study resource: overview of 17 phenotype working group reports. BMC Med Genet. 2007; 8: S1.
- 21, , Bone mineral density in elderly men and women: results from the Framingham osteoporosis study. J Bone Miner Res. 1992; 7: 547–53.Direct Link:
- 22, , , et al. Genome-wide association scans identified CTNNBL1 as a novel gene for obesity. Hum Mol Genet. 2008; 17: 1803–1813.
- 23, A genotype calling algorithm for affymetrix SNP arrays. Bioinformatics. 2006; 22: 7–12.
- 24, , , , , Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet. 2006; 38: 904–909.
- 25, , Power and design considerations for a general class of family-based association tests: quantitative traits. Am J Hum Genet. 2002; 71: 1330–1341.
- 26, Meta-Analytic Procedures For Social Research. Beverly Hills, CA: Sage; 1991.
- 27, The use of pedigree, sib-pair and association studies of common diseases for genetic mapping and epidemiology. Nat Genet. 2004; 36: 1045–51.
- 28, , , et al. Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia. Mol Psychiatry. 2007; 12: 572–580.
- 29, , , Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005; 21: 263–265.
- 30, , , , A new multipoint method for genome-wide association studies by imputation of genotypes. Nat Genet. 2007; 39: 906–913.
- 31, Evidence that intermittent treatment with parathyroid hormone increases bone formation in adult rats by activation of bone lining cells. Endocrinology. 1995; 136: 3632–3638.
- 32, , , , , Increased bone formation by prevention of osteoblast apoptosis with parathyroid hormone. J Clin Invest. 1999; 104: 439–446.
- 33, Meta-analysis in genome-wide association studies. Pharmacogenomics. 2009; 10: 191–201.
- 34, Effects of continuous and intermittent administration and inhibition of resorption on the anabolic response of bone to parathyroid hormone. J Bone Miner Res. 1992; 7: 65–72.Direct Link:
- 35, , , Human parathyroid hormone-(1-34) increases bone mass in ovariectomized and orchidectomized rats. Endocrinology. 1988; 122: 2899–2904.
- 36, , , et al. Effect of parathyroid hormone (1-34) on fractures and bone mineral density in postmenopausal women with osteoporosis. N Engl J Med. 2001; 344: 1434–1441.
- 37, , , , , Association of VDR and estrogen receptor genotypes with bone mass in postmenopausal Caucasian women: different conclusions with different analyses and the implications. Osteoporos Int. 1999; 9: 499–507.
- 38, , , Association of bone dimensions with a parathyroid hormone gene polymorphism in women. Osteoporos Int. 1999; 9: 307–311.
- 39, , , , Association of gene polymorphisms and bone density in Japanese girls. J Bone Miner Metab. 2002; 20: 164–169.
- 40, , , et al. Genetic variation in the PTH pathway and bone phenotypes in elderly women: evaluation of PTH, PTHLH, PTHR1 and PTHR2 genes. Bone. 2008; 42: 719–727.
- 41, , , et al. Tests of linkage and/or association of genes for vitamin D receptor, osteocalcin, and parathyroid hormone with bone mineral density. J Bone Miner Res. 2002; 17: 678–686.Direct Link:
- 42, , , et al. Transcriptional maps of 10 human chromosomes at 5-nucleotide resolution. Science. 2005; 308: 1149–1154.
- 43, , , et al. Empirical analysis of transcriptional activity in the Arabidopsis genome. Science. 2003; 302: 842–846.
- 44, , Genetic evidence for promoter competition in Saccharomyces cerevisiae. Mol Cell Biol. 1988; 8: 4608–4615.
- 45, , Regulation of an intergenic transcript controls adjacent gene transcription in Saccharomyces cerevisiae. Genes Dev. 2005; 19: 2695–2704.
- 46, , , et al. In vivo genome-wide expression study on human circulating B cells suggests a novel ESR1 and MAPK3 network for postmenopausal osteoporosis. J Bone Miner Res. 2008; 23: 644–654.Direct Link:
- 47, , , Interleukin-21: a new modulator of immunity, infection, and cancer. Cytokine Growth Factor Rev. 2007; 18: 223–232.
- 48, , , et al. Expression of interleukin-21 receptor, but not interleukin-21, in synovial fibroblasts and synovial macrophages of patients with rheumatoid arthritis. Arthritis Rheum. 2004; 50: 1468–1476.Direct Link:
- 49, , , et al. Family-based samples can play an important role in genetic association studies. Cancer Epidemiol Biomarkers Prev. 2008; 17: 2208–2214.

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