Sökning: WFRF:(Sigurdsson E. M.) > Life-Course Genome-...
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000 | 11050naa a2201549 4500 | |
001 | oai:gup.ub.gu.se/264600 | |
003 | SwePub | |
008 | 240528s2018 | |||||||||||000 ||eng| | |
009 | oai:lup.lub.lu.se:11dd8a80-2867-4fca-9f19-2348b1a5585c | |
024 | 7 | a https://gup.ub.gu.se/publication/2646002 URI |
024 | 7 | a https://doi.org/10.1016/j.ajhg.2017.12.0052 DOI |
024 | 7 | a https://lup.lub.lu.se/record/11dd8a80-2867-4fca-9f19-2348b1a5585c2 URI |
040 | a (SwePub)gud (SwePub)lu | |
041 | a eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Medina-Gomez, C.u Erasmus University Medical Center4 aut |
245 | 1 0 | a Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects |
264 | 1 | b Elsevier BV,c 2018 |
520 | a Bone mineral density (BMD) assessed by DXA is used to evaluate bone health. In children, total body (TB) measurements are commonly used; in older individuals, BMD at the lumbar spine (LS) and femoral neck (FN) is used to diagnose osteoporosis. To date, genetic variants in more than 60 loci have been identified as associated with BMD. To investigate the genetic determinants of TB-BMD variation along the life course and test for age-specific effects, we performed a meta-analysis of 30 genome-wide association studies (GWASs) of TB-BMD including 66,628 individuals overall and divided across five age strata, each spanning 15 years. We identified variants associated with TB-BMD at 80 loci, of which 36 have not been previously identified; overall, they explain approximately 10% of the TB-BMD variance when combining all age groups and influence the risk of fracture. Pathway and enrichment analysis of the association signals showed clustering within gene sets implicated in the regulation of cell growth and SMAD proteins, overexpressed in the musculoskeletal system, and enriched in enhancer and promoter regions. These findings reveal TB-BMD as a relevant trait for genetic studies of osteoporosis, enabling the identification of variants and pathways influencing different bone compartments. Only variants in ESR1 and close proximity to RANKL showed a clear effect dependency on age. This most likely indicates that the majority of genetic variants identified influence BMD early in life and that their effect can be captured throughout the life course. © 2017 American Society of Human Genetics | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicin0 (SwePub)3022 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicine0 (SwePub)3022 hsv//eng |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
653 | a age-dependent effects | |
653 | a BMD | |
653 | a bone mineral density | |
653 | a CREB3L1 | |
653 | a ESR1 | |
653 | a fracture | |
653 | a genetic correlation | |
653 | a genome-wide association studies | |
653 | a GWASs | |
653 | a meta-regression | |
653 | a RANKL | |
653 | a total-body DXA | |
700 | 1 | a Kemp, J. P.u University of Queensland,University of Bristol4 aut |
700 | 1 | a Trajanoska, K.u Erasmus University Medical Center4 aut |
700 | 1 | a Luan, J.u University of Cambridge4 aut |
700 | 1 | a Chesi, A.u The Children's Hospital of Philadelphia4 aut |
700 | 1 | a Ahluwalia, T. S.u Steno Diabetes Center Copenhagen,University of Copenhagen4 aut |
700 | 1 | a Mook-Kanamori, D. O.u Leiden University Medical Centre4 aut |
700 | 1 | a Ham, A.u Erasmus University Medical Center4 aut |
700 | 1 | a Hartwig, F. P.u Federal University of Pelotas4 aut |
700 | 1 | a Evans, D. S.u California Pacific Medical Center4 aut |
700 | 1 | a Joro, R.u University of Eastern Finland,McGill University4 aut |
700 | 1 | a Nedeljkovic, I.u Erasmus University Medical Center4 aut |
700 | 1 | a Zheng, H. F.u McGill University4 aut |
700 | 1 | a Zhu, K.u Sir Charles Gairdner Hospital,University of Western Australia, Crawley4 aut |
700 | 1 | a Atalay, M.u University of Eastern Finland,National Institute on Aging, United States4 aut |
700 | 1 | a Liu, C. T.u Boston University4 aut |
700 | 1 | a Nethander, Maria,d 1980u Gothenburg University,Göteborgs universitet,Core Facilities, Bioinformatics,Core Facilities, Bioinformatics,Sahlgrenska Academy4 aut0 (Swepub:gu)xnetma |
700 | 1 | a Broer, L.u Erasmus University Medical Center4 aut |
700 | 1 | a Porleifsson, G.u deCODE Genetics4 aut |
700 | 1 | a Mullin, B. H.u University of Western Australia, Crawley,Sir Charles Gairdner Hospital,University of Copenhagen4 aut |
700 | 1 | a Handelman, S. K.u Wayne State University,National University Hospital of Iceland,deCODE Genetics4 aut |
700 | 1 | a Nalls, M. A.4 aut |
700 | 1 | a Jessen, L. E.u University of Copenhagen,University of Ioannina,Imperial College London4 aut |
700 | 1 | a Heppe, D. H. M.u Erasmus University Medical Center,Amsterdam UMC - Vrije Universiteit Amsterdam,Leiden University Medical Centre4 aut |
700 | 1 | a Richards, J. B.4 aut |
700 | 1 | a Wang, C.u University of Western Australia, Crawley4 aut |
700 | 1 | a Chawes, B.u University of Copenhagen,Erasmus University Medical Center4 aut |
700 | 1 | a Schraut, K. E.u University of Edinburgh4 aut |
700 | 1 | a Amin, N.u Erasmus University Medical Center4 aut |
700 | 1 | a Wareham, N.u University of Cambridge4 aut |
700 | 1 | a Karasik, D.u Bar-Ilan University4 aut |
700 | 1 | a Van der Velde, N.u Erasmus University Medical Center,Academic Medical Center of University of Amsterdam (AMC)4 aut |
700 | 1 | a Ikram, M. A.u Erasmus University Medical Center4 aut |
700 | 1 | a Zemel, B. S.u The Children's Hospital of Philadelphia4 aut |
700 | 1 | a Zhou, Y.u Boston University4 aut |
700 | 1 | a Carlsson, C. J.u University of Copenhagen4 aut |
700 | 1 | a Liu, Y.u Wake Forest University4 aut |
700 | 1 | a McGuigan, Fiona E.u Lund University,Lunds universitet,Ortopedi - klinisk och molekylär osteoporosforskning,Forskargrupper vid Lunds universitet,Orthopedics - Clinical and Molecular Osteoporosis Research,Lund University Research Groups4 aut0 (Swepub:lu)med-fam |
700 | 1 | a Boer, C. G.u Erasmus University Medical Center4 aut |
700 | 1 | a Bønnelykke, K.u University of Copenhagen4 aut |
700 | 1 | a Ralston, S. H.u University of Edinburgh4 aut |
700 | 1 | a Robbins, J. A.u University of California, San Diego4 aut |
700 | 1 | a Walsh, J. P.u Sir Charles Gairdner Hospital,University of Western Australia, Crawley4 aut |
700 | 1 | a Zillikens, M. C.u Erasmus University Medical Center4 aut |
700 | 1 | a Langenberg, C.u University of Cambridge,University of Rochester4 aut |
700 | 1 | a Li-Gao, R.u Leiden University Medical Centre4 aut |
700 | 1 | a Williams, F. M. K.u King's College London4 aut |
700 | 1 | a Harris, T. B.u National Institute on Aging, United States4 aut |
700 | 1 | a Akesson, Kristinau Lund University,Lunds universitet,Ortopedi - klinisk och molekylär osteoporosforskning,Forskargrupper vid Lunds universitet,Orthopedics - Clinical and Molecular Osteoporosis Research,Lund University Research Groups4 aut0 (Swepub:lu)orto-kak |
700 | 1 | a Jackson, R. D.u Ohio State University4 aut |
700 | 1 | a Sigurdsson, G.u National University Hospital of Iceland,University of Iceland4 aut |
700 | 1 | a den Heijer, M.4 aut |
700 | 1 | a van der Eerden, B. C. J.4 aut |
700 | 1 | a van de Peppel, J.u Erasmus University Medical Center4 aut |
700 | 1 | a Spector, T. D.u King's College London4 aut |
700 | 1 | a Pennell, C.u University of Western Australia, Crawley4 aut |
700 | 1 | a Horta, B. L.u Federal University of Pelotas4 aut |
700 | 1 | a Felix, J. F.u Erasmus University Medical Center4 aut |
700 | 1 | a Zhao, J. H.u University of Cambridge4 aut |
700 | 1 | a Wilson, S. G.u Sir Charles Gairdner Hospital,University of Western Australia, Crawley,King's College London4 aut |
700 | 1 | a de Mutsert, R.u Leiden University Medical Centre4 aut |
700 | 1 | a Bisgaard, H.4 aut |
700 | 1 | a Styrkársdóttir, U.u deCODE Genetics4 aut |
700 | 1 | a Jaddoe, V. W.u Erasmus University Medical Center,Mayo Clinic Minnesota4 aut |
700 | 1 | a Orwoll, E.u Oregon Health & Science University4 aut |
700 | 1 | a Lakka, T. A.u Kuopio University Hospital,University of Eastern Finland4 aut |
700 | 1 | a Scott, R.u University of Cambridge4 aut |
700 | 1 | a Grant, S. F. A.u The Children's Hospital of Philadelphia,University of Pennsylvania4 aut |
700 | 1 | a Lorentzon, Mattias,d 1970u University of Gothenburg,Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition,Institute of Medicine, Department of Internal Medicine and Clinical Nutrition4 aut0 (Swepub:gu)xlomat |
700 | 1 | a van Duijn, C. M.u Erasmus University Medical Center4 aut |
700 | 1 | a Wilson, J. F.4 aut |
700 | 1 | a Stefansson, K.4 aut |
700 | 1 | a Psaty, B. M.u University of Washington,Kaiser Permanente Research Institute4 aut |
700 | 1 | a Kiel, D. P.u Broad Institute,Beth Israel Deaconess Medical Center4 aut |
700 | 1 | a Ohlsson, Claes,d 1965u Gothenburg University,Göteborgs universitet,Centre for Bone and Arthritis Research,Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition,Institute of Medicine, Department of Internal Medicine and Clinical Nutrition,Sahlgrenska Academy4 aut0 (Swepub:gu)xohlcl |
700 | 1 | a Ntzani, E.u University of Ioannina4 aut |
700 | 1 | a van Wijnen, A. J.4 aut |
700 | 1 | a Forgetta, V.u McGill University4 aut |
700 | 1 | a Ghanbari, M.u Erasmus University Medical Center,Mashhad University of Medical Sciences4 aut |
700 | 1 | a Logan, J. G.u Imperial College London4 aut |
700 | 1 | a Williams, G. R.u Imperial College London4 aut |
700 | 1 | a Bassett, J. H. D.u Imperial College London4 aut |
700 | 1 | a Croucher, P. I.u Garvan Institute of Medical Research4 aut |
700 | 1 | a Evangelou, E.4 aut |
700 | 1 | a Uitterlinden, A. G.u Erasmus University Medical Center4 aut |
700 | 1 | a Ackert-Bicknell, C. L.4 aut |
700 | 1 | a Tobias, J. H.u University of Bristol4 aut |
700 | 1 | a Evans, D. M.u University of Bristol,University of Queensland4 aut |
700 | 1 | a Rivadeneira, F.u Erasmus University Medical Center4 aut |
710 | 2 | a Erasmus University Medical Centerb University of Queensland4 org |
773 | 0 | t American Journal of Human Geneticsd : Elsevier BVg 102:1, s. 88-102q 102:1<88-102x 0002-9297 |
856 | 4 | u http://www.cell.com/article/S0002929717304949/pdf |
856 | 4 | u http://dx.doi.org/10.1016/j.ajhg.2017.12.005y FULLTEXT |
856 | 4 8 | u https://gup.ub.gu.se/publication/264600 |
856 | 4 8 | u https://doi.org/10.1016/j.ajhg.2017.12.005 |
856 | 4 8 | u https://lup.lub.lu.se/record/11dd8a80-2867-4fca-9f19-2348b1a5585c |
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