@article {8538,
	title = {{Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects},
	journal = {Am J Hum Genet},
	volume = {102},
	year = {2018},
	month = {01},
	pages = {88{\textendash}102},
	abstract = {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.},
	author = {Medina-Gomez, C. and Kemp, J. P. and Trajanoska, K. and Luan, J. and Chesi, A. and Ahluwalia, T. S. and Mook-Kanamori, D. O. and Ham, A. and Hartwig, F. P. and Evans, D. S. and Joro, R. and Nedeljkovic, I. and Zheng, H. F. and Zhu, K. and Atalay, M. and Liu, C. T. and Nethander, M. and Broer, L. and Porleifsson, G. and Mullin, B. H. and Handelman, S. K. and Nalls, M. A. and Jessen, L. E. and Heppe, D. H. M. and Richards, J. B. and Wang, C. and Chawes, B. and Schraut, K. E. and Amin, N. and Wareham, N. and Karasik, D. and Van der Velde, N. and Ikram, M. A. and Zemel, B. S. and Zhou, Y. and Carlsson, C. J. and Liu, Y. and McGuigan, F. E. and Boer, C. G. and B?nnelykke, K. and Ralston, S. H. and Robbins, J. A. and Walsh, J. P. and Zillikens, M. C. and Langenberg, C. and Li-Gao, R. and Williams, F. M. K. and Harris, T. B. and Akesson, K. and Jackson, R. D. and Sigurdsson, G. and den Heijer, M. and van der Eerden, B. C. J. and van de Peppel, J. and Spector, T. D. and Pennell, C. and Horta, B. L. and Felix, J. F. and Zhao, J. H. and Wilson, S. G. and de Mutsert, R. and Bisgaard, H. and Styrk?rsd?ttir, U. and Jaddoe, V. W. and Orwoll, E. and Lakka, T. A. and Scott, R. and Grant, S. F. A. and Lorentzon, M. and van Duijn, C. M. and Wilson, J. F. and Stefansson, K. and Psaty, B. M. and Kiel, D. P. and Ohlsson, C. and Ntzani, E. and van Wijnen, A. J. and Forgetta, V. and Ghanbari, M. and Logan, J. G. and Williams, G. R. and Bassett, J. H. D. and Croucher, P. I. and Evangelou, E. and Uitterlinden, A. G. and Ackert-Bicknell, C. L. and Tobias, J. H. and Evans, D. M. and Rivadeneira, F.}
}
@article {9374,
	title = {{Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology},
	journal = {Am J Hum Genet},
	volume = {105},
	year = {2019},
	month = {Jul},
	pages = {15{\textendash}28},
	abstract = {) with at least one obesity or lipid trait. Candidate genes include PRKAR2A, PTH1R, and HDAC9, which have been suggested to play roles in adipocyte differentiation or bone marrow adipose tissue. Taken together, these findings provide further insights into the processes that influence circulating adiponectin levels.},
	author = {Spracklen, C. N. and Karaderi, T. and Yaghootkar, H. and Schurmann, C. and Fine, R. S. and Kutalik, Z. and Preuss, M. H. and Lu, Y. and Wittemans, L. B. L. and Adair, L. S. and Allison, M. and Amin, N. and Auer, P. L. and Bartz, T. M. and her, M. and Boehnke, M. and Borja, J. B. and Bork-Jensen, J. and Broer, L. and Chasman, D. I. and Chen, Y. I. and Chirstofidou, P. and Demirkan, A. and van Duijn, C. M. and Feitosa, M. F. and Garcia, M. E. and Graff, M. and Grallert, H. and Grarup, N. and Guo, X. and Haesser, J. and Hansen, T. and Harris, T. B. and Highland, H. M. and Hong, J. and Ikram, M. A. and Ingelsson, E. and Jackson, R. and Jousilahti, P. and nen, M. and Kizer, J. R. and Kovacs, P. and Kriebel, J. and Laakso, M. and Lange, L. A. and ki, T. and Li, J. and Li-Gao, R. and Lind, L. and Luan, J. and inen, L. P. and MacGregor, S. and Mackey, D. A. and Mahajan, A. and Mangino, M. and {\"o}, S. and McCarthy, M. I. and McKnight, B. and Medina-Gomez, C. and Meigs, J. B. and Molnos, S. and Mook-Kanamori, D. and Morris, A. P. and de Mutsert, R. and Nalls, M. A. and Nedeljkovic, I. and North, K. E. and Pennell, C. E. and Pradhan, A. D. and Province, M. A. and Raitakari, O. T. and Raulerson, C. K. and Reiner, A. P. and Ridker, P. M. and Ripatti, S. and Roberston, N. and Rotter, J. I. and Salomaa, V. and rate, A. A. and Sitlani, C. M. and Spector, T. D. and Strauch, K. and Stumvoll, M. and Taylor, K. D. and Thuesen, B. and njes, A. and Uitterlinden, A. G. and Venturini, C. and Walker, M. and Wang, C. A. and Wang, S. and Wareham, N. J. and Willems, S. M. and Willems van Dijk, K. and Wilson, J. G. and Wu, Y. and Yao, J. and Young, K. L. and Langenberg, C. and Frayling, T. M. and inen, T. O. and Lindgren, C. M. and Loos, R. J. F. and Mohlke, K. L.}
}
@article {9391,
	title = {{Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology},
	journal = {Am J Hum Genet},
	volume = {105},
	year = {2019},
	month = {Sep},
	pages = {670{\textendash}671},
	author = {Spracklen, C. N. and Karaderi, T. and Yaghootkar, H. and Schurmann, C. and Fine, R. S. and Kutalik, Z. and Preuss, M. H. and Lu, Y. and Wittemans, L. B. L. and Adair, L. S. and Allison, M. and Amin, N. and Auer, P. L. and Bartz, T. M. and her, M. and Boehnke, M. and Borja, J. B. and Bork-Jensen, J. and Broer, L. and Chasman, D. I. and Chen, Y. I. and Chirstofidou, P. and Demirkan, A. and van Duijn, C. M. and Feitosa, M. F. and Garcia, M. E. and Graff, M. and Grallert, H. and Grarup, N. and Guo, X. and Haesser, J. and Hansen, T. and Harris, T. B. and Highland, H. M. and Hong, J. and Ikram, M. A. and Ingelsson, E. and Jackson, R. and Jousilahti, P. and nen, M. and Kizer, J. R. and Kovacs, P. and Kriebel, J. and Laakso, M. and Lange, L. A. and ki, T. and Li, J. and Li-Gao, R. and Lind, L. and Luan, J. and inen, L. P. and MacGregor, S. and Mackey, D. A. and Mahajan, A. and Mangino, M. and {\"o}, S. and McCarthy, M. I. and McKnight, B. and Medina-Gomez, C. and Meigs, J. B. and Molnos, S. and Mook-Kanamori, D. and Morris, A. P. and de Mutsert, R. and Nalls, M. A. and Nedeljkovic, I. and North, K. E. and Pennell, C. E. and Pradhan, A. D. and Province, M. A. and Raitakari, O. T. and Raulerson, C. K. and Reiner, A. P. and Ridker, P. M. and Ripatti, S. and Roberston, N. and Rotter, J. I. and Salomaa, V. and rate, A. A. and Sitlani, C. M. and Spector, T. D. and Strauch, K. and Stumvoll, M. and Taylor, K. D. and Thuesen, B. and njes, A. and Uitterlinden, A. G. and Venturini, C. and Walker, M. and Wang, C. A. and Wang, S. and Wareham, N. J. and Willems, S. M. and Willems van Dijk, K. and Wilson, J. G. and Wu, Y. and Yao, J. and Young, K. L. and Langenberg, C. and Frayling, T. M. and inen, T. O. and Lindgren, C. M. and Loos, R. J. F. and Mohlke, K. L.}
}
@article {8999,
	title = {{Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation},
	journal = {Hum Genet},
	volume = {141},
	year = {2022},
	month = {Jan},
	pages = {127{\textendash}146},
	abstract = {).},
	author = {Longchamps, R. J. and Yang, S. Y. and Castellani, C. A. and Shi, W. and Lane, J. and Grove, M. L. and Bartz, T. M. and Sarnowski, C. and Liu, C. and Burrows, K. and Guyatt, A. L. and Gaunt, T. R. and Kacprowski, T. and Yang, J. and De Jager, P. L. and Yu, L. and Bergman, A. and Xia, R. and Fornage, M. and Feitosa, M. F. and Wojczynski, M. K. and Kraja, A. T. and Province, M. A. and Amin, N. and Rivadeneira, F. and Tiemeier, H. and Uitterlinden, A. G. and Broer, L. and van Meurs, J. B. J. and van Duijn, C. M. and Raffield, L. M. and Lange, L. and Rich, S. S. and Lemaitre, R. N. and Goodarzi, M. O. and Sitlani, C. M. and Mak, A. C. Y. and Bennett, D. A. and Rodriguez, S. and Murabito, J. M. and Lunetta, K. L. and Sotoodehnia, N. and Atzmon, G. and Ye, K. and Barzilai, N. and Brody, J. A. and Psaty, B. M. and Taylor, K. D. and Rotter, J. I. and Boerwinkle, E. and Pankratz, N. and Arking, D. E.}
}
