Suggestive linkage of 2p22-25 and 11q12-13 with low bone mineral density at the lumbar spine in the Irish population
Wynne, F., Drummond, F. J., Daly, M., Brown, M.A., Shanahan, F., Molloy, M. G., & Quanel, K. A. (2003) Suggestive linkage of 2p22-25 and 11q12-13 with low bone mineral density at the lumbar spine in the Irish population. Calcified Tissue International, 72(6), pp. 651-658.
Osteoporosis is a disease characterized by low bone mineral density (BMD) and poor bone quality. Peak bone density is achieved by the third decade of life, after which bone is maintained by a balanced cycle of bone resorption and synthesis. Age-related bone loss occurs as the bone resorption phase outweighs the bone synthesis phase of bone metabolism. Heritability accounts for up to 90% of the variability in BMD. Chromosomal loci including 1p36, 2p22-25, 11q12-13, parathyroid hormone receptor type 1 (PTHR1), interleukin-6 (IL-6), interleukin 1 alpha (IL-1α) and type II collagen A1/vitamin D receptor (COL11A1/VDR) have been linked or shown suggestive linkage with BMD in other populations. To determine whether these loci predispose to low BMD in the Irish population, we investigated 24 microsatellite markers at 7 chromosomal loci by linkage studies in 175 Irish families of probands with primary low BMD (T-score ≤ -1.5). Nonparametric analysis was performed using the maximum likelihood variance estimation and traditional Haseman-Elston tests on the Mapmaker/Sibs program. Suggestive evidence of linkage was observed with lumbar spine BMD at 2p22-25 (maximum LOD score 2.76) and 11q12-13 (MLS 2.55). One region, 1p36, approached suggestive linkage with femoral neck BMD (MLS 2.17). In addition, seven markers achieved LOD scores > 1.0, D2S149, D11S1313, D11S987, D11S1314 including those encompassing the PTHR1 (D3S3559, D3S1289) for lumbar spine BMD and D2S149 for femoral neck BMD. Our data suggest that genes within a these chromosomal regions are contributing to a predisposition to low BMD in the Irish population.
Impact and interest:
Citation counts are sourced monthly from and citation databases.
These databases contain citations from different subsets of available publications and different time periods and thus the citation count from each is usually different. Some works are not in either database and no count is displayed. Scopus includes citations from articles published in 1996 onwards, and Web of Science® generally from 1980 onwards.
Citations counts from theindexing service can be viewed at the linked Google Scholar™ search.
|Item Type:||Journal Article|
|Additional Information:||No file attached.|
|Keywords:||Bone mineral density, Linkage, Osteopenia, Osteoporosis, Sib-pair, collagen type 2, interleukin 1alpha, interleukin 6, parathyroid hormone receptor, vitamin D receptor, adult, aged, article, bone density, bone metabolism, bone mineral, chromosome 11q, chromosome 1p, chromosome 2p, female, gene locus, genetic linkage, genetic predisposition, heritability, human, Ireland, lumbar spine, major clinical study, male, microsatellite marker, ossification, osteolysis, priority journal, Aged, 80 and over, Bone Diseases, Metabolic, Chromosomes, Human, Pair 11, Chromosomes, Human, Pair 2, Family Health, Humans, Lod Score, Lumbar Vertebrae, Middle Aged, Osteoporosis, Postmenopausal, Siblings|
|Divisions:||Current > Schools > School of Biomedical Sciences
Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
|Deposited On:||01 Oct 2015 23:26|
|Last Modified:||18 Oct 2015 22:57|
Repository Staff Only: item control page