New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk

Journal article


Lu, Yingchang, Day, Felix R., Gustafsson, Stefan, Buchkovich, Martin L., Na, Jianbo, Bataille, Veronique, Cousminer, Diana L., Dastani, Zari, Drong, Alexander W., Esko, Tõnu, Evans, David M., Falchi, Mario, Feitosa, Mary F., Ferreira, Teresa, Hedman, Åsa K., Haring, Robin, Hysi, Pirro G., Iles, Mark M., Justice, Anne E., ... Loos, Ruth J. F.. (2016). New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk. Nature Communications. 7, p. Article 10495. https://doi.org/10.1038/ncomms10495
AuthorsLu, Yingchang, Day, Felix R., Gustafsson, Stefan, Buchkovich, Martin L., Na, Jianbo, Bataille, Veronique, Cousminer, Diana L., Dastani, Zari, Drong, Alexander W., Esko, Tõnu, Evans, David M., Falchi, Mario, Feitosa, Mary F., Ferreira, Teresa, Hedman, Åsa K., Haring, Robin, Hysi, Pirro G., Iles, Mark M., Justice, Anne E., Kanoni, Stavroula, Lagou, Vasiliki, Li, Rui, Li, Xin, Locke, Adam, Lu, Chen, Mägi, Reedik, Perry, John R. B., Pers, Tune H., Qi, Qibin, Sanna, Marianna, Schmidt, Ellen M., Scott, William R., Shungin, Dmitry, Teumer, Alexander, Vinkhuyzen, Anna A. E., Walker, Ryan W., Westra, Harm-Jan, Zhang, Mingfeng, Zhang, Weihua, Zhao, Jing Hua, Zhu, Zhihong, Afzal, Uzma, Ahluwalia, Tarunveer Singh, Bakker, Stephan J. L., Bellis, Claire, Bonnefond, Amélie, Borodulin, Katja, Buchman, Aron S., Cederholm, Tommy, Choh, Audrey C., Choi, Hyung Jin, Curran, Joanne E., de Groot, Lisette C. P. G. M., De Jager, Phillip L., Dhonukshe-Rutten, Rosalie A. M., Enneman, Anke W., Eury, Elodie, Evans, Daniel S., Forsen, Tom, Friedrich, Nele, Fumeron, Frédéric, Garcia, Melissa E., Gärtner, Simone, Han, Bok-Ghee, Havulinna, Aki S., Hayward, Caroline, Hernandez, Dena, Hillege, Hans, Ittermann, Till, Kent, Jack W., Kolcic, Ivana, Laatikainen, Tiina, Lahti, Jari, Leach, Irene Mateo, Lee, Christine G., Lee, Jong-Young, Liu, Tian, Liu, Youfang, Lobbens, Stéphane, Loh, Marie, Lyytikäinen, Leo-Pekka, Medina-Gómez, Carolina, Michaëlsson, Karl, Nalls, Mike A., Nielson, Carrie M., Oozageer, Laticia, Pascoe, Laura, Paternoster, Lavinia, Polašek, Ozren, Ripatti, Samuli, Sarzynski, Mark A., Shin, Chan Soo, Narančić, Nina Smolej, Spira, Dominik, Srikanth, Priya, Steinhagen-Thiessen, Elisabeth, Sung, Yun Ju, Swart, Karin M. A., Taittonen, Leena, Tanaka, Toshiko, Tikkanen, Emmi, van der Velde, Nathalie, van Schoor, Natasja M., Verweij, Niek, Wright, Alan F., Yu, Lei, Zmuda, Joseph M., Eklund, Niina, Forrester, Terrence, Grarup, Niels, Jackson, Anne U., Kristiansson, Kati, Kuulasmaa, Teemu, Kuusisto, Johanna, Lichtner, Peter, Luan, Jian'an, Mahajan, Anubha, Männistö, Satu, Palmer, Cameron D., Ried, Janina S., Scott, Robert A., Stančáková, Alena, Wagner, Peter J., Demirkan, Ayse, Doring, Angela, Gudnason, Vilmundur, Kiel, Douglas P., Kühnel, Brigitte, Mangino, Massimo, Mcknight, Barbara, Menni, Cristina, O'Connell, Jeffrey R., Oostra, Ben A., Shuldiner, Alan R., Song, Kijoung, Vandenput, Liesbeth, van Duijn, Cornelia M., Vollenweider, Peter, White, Charles C., Boehnke, Michael, Boettcher, Yvonne, Cooper, Richard S., Forouhi, Nita G., Gieger, Christian, Grallert, Harald, Hingorani, Aroon, Jørgensen, Torben, Jousilahti, Pekka, Kivimäki, Mika, Kumari, Meena, Laakso, Markku, Langenberg, Claudia, Linneberg, Allan, Luke, Amy, Mckenzie, Colin A., Palotie, Aarno, Pedersen, Oluf, Peters, Annette, Strauch, Konstantin, Tayo, Bamidele O., Wareham, Nicholas J., Bennett, David A., Bertram, Lars, Blangero, John, Blüher, Matthias, Bouchard, Claude, Campbell, Harry, Cho, Nam H., Cummings, Steven R., Czerwinski, Stefan A., Demuth, Ilja, Eckardt, Rahel, Eriksson, Johan G., Ferrucci, Luigi, Franco, Oscar H., Froguel, Philippe, Gansevoort, Ron T., Hansen, Torben, Harris, Tamara B., Hastie, Nicholas, Heliövaara, Markku, Hofman, Albert, Jordan, Joanne M., Jula, Antti, Kahonen, Mika, Kajantie, Eero, Knekt, Paul B., Koskinen, Seppo, Kovacs, Peter, Lehtimaki, Terho, Lind, Lars, Liu, Yongmei, Orwoll, Eric S., Osmond, Clive, Perola, Markus, Pérusse, Louis, Raitakari, Olli T., Rankinen, Tuomo, Rao, D. C., Rice, Treva K., Rivadeneira, Fernando, Rudan, Igor, Salomaa, Veikko, Sørensen, Thorkild I. A., Stumvoll, Michael, Tönjes, Anke, Towne, Bradford, Tranah, Gregory J., Tremblay, Angelo, Uitterlinden, André G., Van Der Harst, Pim, Vartiainen, Erkki, Viikari, Jorma S., Vitart, Veronique, Vohl, Marie-Claude, Völzke, Henry, Walker, Mark, Wallaschofski, Henri, Wild, Sarah, Wilson, James F., Yengo, Loïc, Bishop, D. Timothy, Borecki, Ingrid B., Chambers, John C., Cupples, L. Adrienne, Dehghan, Abbas, Deloukas, Panos, Fatemifar, Ghazaleh, Fox, Caroline, Furey, Terrence S., Franke, Lude, Han, Jiali, Hunter, David J., Karjalainen, Juha, Karpe, Fredrik, Kaplan, Robert C., Kooner, Jaspal S., McCarthy, Mark I., Murabito, Joanne M., Morris, Andrew P., Bishop, Julia A. N., North, Kari E., Ohlsson, Claes, Ong, Ken K., Prokopenko, Inga, Richards, J. Brent, Schadt, Eric E., Spector, Tim D., Widén, Elisabeth, Willer, Cristen J., Yang, Jian, Ingelsson, Erik, Mohlke, Karen L., Hirschhorn, Joel N., Pospisilik, John Andrew, Zillikens, M. Carola, Lindgren, Cecilia, Kilpeläinen, Tuomas Oskari and Loos, Ruth J. F.
Abstract

To increase our understanding of the genetic basis of adiposity and its links to cardiometabolic disease risk, we conducted a genome-wide association meta-analysis of body fat percentage (BF%) in up to 100,716 individuals. Twelve loci reached genome-wide significance (P<5 × 10−8), of which eight were previously associated with increased overall adiposity (BMI, BF%) and four (in or near COBLL1/GRB14, IGF2BP1, PLA2G6, CRTC1) were novel associations with BF%. Seven loci showed a larger effect on BF% than on BMI, suggestive of a primary association with adiposity, while five loci showed larger effects on BMI than on BF%, suggesting association with both fat and lean mass. In particular, the loci more strongly associated with BF% showed distinct cross-phenotype association signatures with a range of cardiometabolic traits revealing new insights in the link between adiposity and disease risk.

Year2016
JournalNature Communications
Journal citation7, p. Article 10495
PublisherNature Publishing Group
ISSN2041-1723
Digital Object Identifier (DOI)https://doi.org/10.1038/ncomms10495
PubMed ID26833246
Scopus EID2-s2.0-84965156172
PubMed Central IDPMC4740398
Open accessPublished as ‘gold’ (paid) open access
Page range1-15
FunderAustralian Research Council (ARC)
Publisher's version
License
File Access Level
Open
Output statusPublished
Publication dates
Online01 Feb 2016
Publication process dates
Accepted16 Dec 2015
Deposited01 Dec 2022
Supplemental file
License
All rights reserved
File Access Level
Open
ARC Funded ResearchThis output has been funded, wholly or partially, under the Australian Research Council Act 2001
Grant IDFT130101709
Additional information

A full list of acknowledgements and funders can be found in the Supplementary Notes.

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Kanis, J. A., Johansson, H., Harvey, N. C., Gudnason, V., Sigurdsson, G., Siggeirsdottir, K., Lorentzon, M., Liu, E., Vandenput, L. and McCloskey, E. V.. (2020). Adjusting conventional FRAX estimates of fracture probability according to the recency of sentinel fractures. Osteoporosis International. 31(10), pp. 1817-1828. https://doi.org/10.1007/s00198-020-05517-7
Epidemiology of hip fractures in Bulgaria: Development of a country-specific FRAX model
Kirilova, E., Johansson, H., Kirilov, N., Vladeva, S., Petranova, T., Kolarov, Z., Liu, E., Lorentzon, M., Vandenput, L., Harvey, N. C., McCloskey, E. and Kanis, John A.. (2020). Epidemiology of hip fractures in Bulgaria: Development of a country-specific FRAX model. Archives of Osteoporosis. 15(28), pp. 1 - 7. https://doi.org/10.1007/s11657-020-0710-2
A decade of FRAX: How has it changed the management of osteoporosis?
Kanis, John A., Harvey, Nicholas C., Johansson, Helena, Liu, Enwu, Vandenput, Liesbeth, Lorentzon, Mattias, Leslie, William D. and McCloskey, Eugene V.. (2020). A decade of FRAX: How has it changed the management of osteoporosis? Aging Clinical and Experimental Research. 32(2), pp. 187 - 196. https://doi.org/10.1007/s40520-019-01432-y
Use of age-dependent FRAX-based intervention thresholds for Singapore
Kanis, John A., Chandran, Manju, Chionh, Siok Bee, Ganeson, Ganga, Harvey, Nicholas C., Koh, Woon-Puay, Kwok, Timothy, Lau, Tang Ching, Liu, Enwu, Lorentzon, Mattias, McCloskey, Eugene V., Tan, Kelvin Bryan, Vandenput, Liesbeth and Johansson, Helena. (2020). Use of age-dependent FRAX-based intervention thresholds for Singapore. Archives of Osteoporosis. 15, pp. 1 - 10. https://doi.org/10.1007/s11657-020-00782-9
BMD-related genetic risk scores predict site-specific fractures as well as trabecular and cortical bone microstructure
Nethander, Maria, Pettersson-Kymmer, Ulrika, Vandenput, Liesbeth, Lorentzon, Mattias, Karlsson, Magnus, Mellström, Dan and Ohlsson, Claes. (2020). BMD-related genetic risk scores predict site-specific fractures as well as trabecular and cortical bone microstructure. The Journal of Clinical Endocrinology and Metabolism. 105(4), pp. e1344-e1357. https://doi.org/10.1210/clinem/dgaa082
Disentangling the genetics of lean mass
Karasik, David, Zillikens, M. Carola, Hsu, Yi Hsiang, Aghdassi, Ali, Åkesson, Kristina, Amin, Najaf, Barroso, Inês, Bennett, David A., Bertram, Lars, Bochud, Murielle, Borecki, Ingrid, Broer, Linda, Buchman, Aron S., Byberg, Liisa, Campbell, Harry, Campos-Obando, Natalia, Cauley, Jane, Cawthon, Peggy M, Chambers, John, ... Ohlsson, Claes. (2019). Disentangling the genetics of lean mass. American Journal of Clinical Nutrition. 109(2), pp. 276-278. https://doi.org/10.1093/ajcn/nqy272
Evidence of a causal effect of estradiol on fracture risk in men
Nethander, Maria, Vandenput, Liesbeth, Eriksson, Anna L., Windahl, Sara, Funck-Brentano, Thomas and Ohlsson, Claes. (2019). Evidence of a causal effect of estradiol on fracture risk in men. The Journal of Clinical Endocrinology and Metabolism. 104(2), pp. 433 - 442. https://doi.org/10.1210/jc.2018-00934
Meta-analysis of genomewide association studies reveals genetic variants for hip bone geometry
Hsu, Yi-Hsiang, Estrada, Karol, Evangelou, Evangelos, Ackert-Bicknell, Cheryl, Åkesson, Kristina, Beck, Thomas, Brown, Suzanne J., Capellini, Terence, Carbone, Laura, Cauley, Jane, Cheung, Ching-Lung, Cummings, Steven R., Czerwinski, Stefan, Demissie, Serkalem, Econs, Michael J., Evans, Daniel S., Farber, Charles, Gautvik, Kaare M., Harris, Tamara, ... Karasik, David. (2019). Meta-analysis of genomewide association studies reveals genetic variants for hip bone geometry. Journal of Bone and Mineral Research. 34(7), pp. 1284 - 1296. https://doi.org/10.1002/jbmr.3698
The gut microbiota is a major regulator of androgen metabolism in intestinal contents
Colldén, Hannah, Landin, Andreas, Wallenius, Ville, Elebring, Erik, Fändriks, Lars, Nilsson, Maria E., Ryberg, Henrik, Poutanen, Matti, Sjögren, Klara, Vandenput, Liesbeth and Ohlsson, Claes. (2019). The gut microbiota is a major regulator of androgen metabolism in intestinal contents. American Journal of Physiology - Endocrinology and Metabolism. 317(6), pp. E1182 - E1192. https://doi.org/10.1152/ajpendo.00338.2019
Pubertal timing and adult fracture risk in men: A population-based cohort study
Vandenput, Liesbeth, Kindblom, Jenny M., Bygdell, Maria, Nethander, Maria and Ohlsson, Claes. (2019). Pubertal timing and adult fracture risk in men: A population-based cohort study. PLoS Medicine. 16(12), pp. 1 - 14. https://doi.org/10.1371/journal.pmed.1002986
Genome analyses of > 200,000 individuals identify 58 loci for chronic inflammation and highlight pathways that link inflammation and complex disorders
Vaez, Ahmad, Võsa, Urmo, Stathopoulou, Maria G., de Vries, Paul S., Prins, Bram P., Van der Most, Peter J., Tanaka, Toshiko, Naderi, Elnaz, Rose, Lynda M., Wu, Ying, Karlsson, Robert, Barbalic, Maja, Lin, Honghuang, Pool, René, Zhu, Gu, Macé, Aurélien, Sidore, Carlo, Trompet, Stella, Mangino, Massimo, ... Alizadeh, Behrooz Z.. (2018). Genome analyses of > 200,000 individuals identify 58 loci for chronic inflammation and highlight pathways that link inflammation and complex disorders. American Journal of Human Genetics. 103(5), pp. 691-706. https://doi.org/10.1016/j.ajhg.2018.09.009
Assessment of the genetic and clinical determinants of fracture risk: Genome wide association and mendelian randomisation study
Trajanoska, Katerina, Morris, John A., Oei, Ling, Zheng, Hou-Feng, Evans, David M., Kiel, Douglas P., Ohlsson, Claes, Richards, J. Brent, Rivadeneira, Fernando, on behalf of the GEFOS/GENOMOS consortium and the 23andMe research team*, Lorentzon, Mattias and Vandenput, Liesbeth. (2018). Assessment of the genetic and clinical determinants of fracture risk: Genome wide association and mendelian randomisation study. BMJ. 362, p. Article k3225. https://doi.org/10.1136/bmj.k3225
Serum DHEA and Its Sulfate Are Associated With Incident Fall Risk in Older Men: The MrOS Sweden study
Ohlsson, Claes, Nethander, Maria, Karlsson, Magnus K., Rosengren, Björn E., Ribom, Eva, Mellström, Dan and Vandenput, Liesbeth. (2018). Serum DHEA and Its Sulfate Are Associated With Incident Fall Risk in Older Men: The MrOS Sweden study. Journal of Bone and Mineral Research. 33(7), pp. 1227 - 1232. https://doi.org/10.1002/jbmr.3418
Genetic determinants of circulating estrogen levels and evidence of a causal effect of estradiol on bone density in men
Eriksson, Anna L., Perry, John R. B., Coviello, Andreas D., Delgado, Graciela E., Ferrucci, Luigi, Hoffman, Andrew R., Huhtaniemi, Ilpo T., Ikram, M. Arfan, Karlsson, Magnus K., Kleber, Marcus E., Laughlin, Gail A., Liu, Yongmei, Lorentzon, Mattias, Lunetta, Kathryn L., Mellström, Dan, Murabito, Joanne M., Murray, Anna, Nethander, Maria, Nielson, Carrie M., ... Ohlsson, Claes. (2018). Genetic determinants of circulating estrogen levels and evidence of a causal effect of estradiol on bone density in men. The Journal of Clinical Endocrinology and Metabolism. 103(3), pp. 991 - 1004. https://doi.org/10.1210/jc.2017-02060
The limited clinical utility of testosterone, estradiol, and sex hormone binding globulin measurements in the prediction of fracture risk and bone loss in older men
Orwoll, Eric S., Lapidus, Jodi, Wang, Patty Y., Vandenput, Liesbeth, Hoffman, Andrew, Fink, Howard A., Laughlin, Gail A., Nethander, Maria, Ljunggren, Östen, Kindmark, Andreas, Lorentzon, Mattias, Karlsson, Magnus K., Mellström, Dan, Kwok, Anthony, Khosla, Sundeep, Kwok, Timothy and Ohlsson, Claes. (2017). The limited clinical utility of testosterone, estradiol, and sex hormone binding globulin measurements in the prediction of fracture risk and bone loss in older men. Journal of Bone and Mineral Research. 32(3), pp. 633-640. https://doi.org/10.1002/jbmr.3021
Large meta-analysis of genome-wide association studies identifies five loci for lean body mass
Zillikens, M. Carola, Demissie, Serkalem, Hsu, Yi-Hsiang, Yerges-Armstrong, Laura M., Chou, Wen-Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L., Kutalik, Zoltán, Luan, Jian'an, Malkin, Ida, Ried, Janina S., Smith, Albert V., Thorleifsson, Gudmar, Vandenput, Liesbeth, Zhao, Jing Hua, Zhang, Weihua, ... Boehnke, Michael. (2017). Large meta-analysis of genome-wide association studies identifies five loci for lean body mass. Nature Communications. 8(1), pp. 1 - 13. https://doi.org/10.1038/s41467-017-00031-7
Umbilical cord blood androgen levels in girls and boys assessed by gas chromatography-tandem mass spectrometry
Lundell, Anna-Carin, Ryberg, Henrik, Vandenput, Liesbeth, Rudin, Anna, Ohlsson, Claes and Tivesten, Åsa. (2017). Umbilical cord blood androgen levels in girls and boys assessed by gas chromatography-tandem mass spectrometry. The Journal of Steroid Biochemistry and Molecular Biology. 171, pp. 195 - 200. https://doi.org/10.1016/j.jsbmb.2017.03.022
Increased adipose tissue aromatase activity improves insulin sensitivity and reduces adipose tissue inflammation in male mice
Ohlsson, Claes, Hammarstedt, Ann, Vandenput, Liesbeth, Saarinen, Niina, Ryberg, Henrik, Windahl, Sara H., Farman, Helen H., Jansson, John-Olov, Movérare-Skrtic, Sofia, Smith, Ulf, Zhang, Fu-Ping, Poutanen, Matti, Hedjazifar, Shahram and Sjögren, Klara. (2017). Increased adipose tissue aromatase activity improves insulin sensitivity and reduces adipose tissue inflammation in male mice. American Journal of Physiology - Endocrinology and Metabolism. 313(4), pp. E450 - E462. https://doi.org/10.1152/ajpendo.00093.2017
Low testosterone, but not estradiol, is associated with incident falls in older men: The international MrOS study
Vandenput, Liesbeth, Mellström, Dan, Laughlin, Gail A., Cawthon, Peggy M., Cauley, Jane A., Hoffman, Andrew R., Karlsson, Magnus K., Rosengren, Björn E., Ljunggren, Östen, Nethander, Maria, Eriksson, Anna L., Lorentzon, Mattias, Leung, Jason, Kwok, Timothy, Orwoll, Eric S. and Ohlsson, Claes. (2017). Low testosterone, but not estradiol, is associated with incident falls in older men: The international MrOS study. Journal of Bone and Mineral Research. 32(6), pp. 1174 - 1181. https://doi.org/10.1002/jbmr.3088
Low-frequency synonymous coding variation in CYP2R1 has large effects on vitamin d levels and risk of multiple sclerosis
Manousaki, Despoina, Dudding, Tom, Haworth, Simon, Hsu, Yi-Hsiang, Liu, Chiang-Ti, Medina-Gómez, Carolina, Voortman, Trudy, van der Velde, Nathalie, Melhus, Håkan, Robinson-Cohen, Cassianne, Cousminer, Diana L., Nethander, Maria, Vandenput, Liesbeth, Noordam, Raymond, Forgetta, Vincenzo, Greenwood, Celia M. T., Biggs, Mary L., Psaty, Bruce M., Rotter, Jerome I., ... Richards, J. Brent. (2017). Low-frequency synonymous coding variation in CYP2R1 has large effects on vitamin d levels and risk of multiple sclerosis. American Journal of Human Genetics. 101(2), pp. 227 - 238. https://doi.org/10.1016/j.ajhg.2017.06.014
Causal relationship between obesity and serum testosterone status in men: A bi-directional mendelian randomization analysis
Eriksson, Joel, Haring, Robin, Grarup, Niels, Vandenput, Liesbeth, Wallaschofski, Henri, Lorentzen, Erik, Hansen, Torben, Mellström, Dan, Pedersen, Oluf, Nauck, Matthias, Lorentzon, Mattias, Husemoen, Lise Lotte Nystrup, Völzke, Henry, Karlsson, Magnus, Baumeister, Sebastian E., Linneberg, Allan and Ohlsson, Claes. (2017). Causal relationship between obesity and serum testosterone status in men: A bi-directional mendelian randomization analysis. PLoS ONE. 12(4), pp. 1 - 15. https://doi.org/10.1371/journal.pone.0176277
Low serum DHEAS predicts increased fracture risk in older men: The MrOS Sweden study
Ohlsson, Claes, Nethander, Maria, Kindmark, Andreas, Ljunggren, Östen, Lorentzon, Mattias, Rosengren, Björn E., Karlsson, Magnus K., Mellström, Dan and Vandenput, Liesbeth. (2017). Low serum DHEAS predicts increased fracture risk in older men: The MrOS Sweden study. Journal of Bone and Mineral Research. 32(8), pp. 1607 - 1614. https://doi.org/10.1002/jbmr.3123
A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape
Ried, Janina S., Jeff, Janina, Chu, Audrey Y., Bragg-Gresham, Jennifer L., van Dongen, Jenny, Huffman, Jennifer E., Ahluwalia, Tarunveer S., Cadby, Gemma, Eklund, Niina, Eriksson, Joel, Esko, Tõnu, Feitosa, Mary F., Goel, Anuj, Gorski, Mathias, Hayward, Caroline, Heard-Costa, Nancy L., Jackson, Anne U., Jokinen, Eero, Kanoni, Stavroula, ... Loos, Ruth J. F.. (2016). A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape. Nature Communications. 7(1), pp. 1 - 11. https://doi.org/10.1038/ncomms13357
High serum SHBG predicts incident vertebral fractures in elderly men
Vandenput, Liesbeth, Mellström, Dan, Kindmark, Andreas, Johansson, Helena, Lorentzon, Mattias, Leung, Jason, Redlund-Johnell, Inga, Rosengren, Björn E., Karlsson, Magnus K., Wang, Yi-Xiang, Kwok, Timothy and Ohlsson, Claes. (2016). High serum SHBG predicts incident vertebral fractures in elderly men. Journal of Bone and Mineral Research. 31(3), pp. 683 - 689. https://doi.org/10.1002/jbmr.2718
Novel genetic variants associated with increased vertebral volumetric BMD, reduced vertebral fracture risk, and increased expression of SLC1A3 and EPHB2
Nielson, Carrie M., Liu, Ching-Ti, Smith, Albert V., Ackert-Bicknell, Cheryl L., Reppe, Sjur, Jakobsdottir, Johanna, Wassel, Christina, Register, Thomas C., Oei, Ling, Alonso, Nerea, Oei, Edwin H., Parimi, Neeta, Samelson, Elizabeth J., Nalls, Mike A., Zmuda, Joseph, Lang, Thomas, Bouxsein, Mary, Latourelle, Jeanne, Claussnitzer, Melina, ... Hsu, Yi-Hsiang. (2016). Novel genetic variants associated with increased vertebral volumetric BMD, reduced vertebral fracture risk, and increased expression of SLC1A3 and EPHB2. Journal of Bone and Mineral Research. 31(12), pp. 2085 - 2097. https://doi.org/10.1002/jbmr.2913
Hydroxysteroid (17 beta)-dehydrogenase 1–deficient female mice present with normal puberty onset but are severely subfertile due to a defect in luteinization and progesterone production
Hakkarainen, Janne, Jokela, Heli, Pakarinen, Pirjo, Heikelä, Hanna, Kätkänaho, Laura, Vandenput, Liesbeth, Ohlsson, Claes, Zhang, Fu-Ping and Poutanen, Matti. (2015). Hydroxysteroid (17 beta)-dehydrogenase 1–deficient female mice present with normal puberty onset but are severely subfertile due to a defect in luteinization and progesterone production. The FASEB Journal. 29(9), pp. 3806 - 3816. https://doi.org/10.1096/fj.14-269035
Measurement of a comprehensive sex steroid profile in rodent serum by high-sensitive gas chromatography-tandem mass spectrometry
Nilsson, Maria E., Vandenput, Liesbeth, Tivesten, Åsa, Norlén, Anna-Karin, Lagerquist, Marie K., Windahl, Sara H., Börjesson, Anna E., Farman, Helen H., Poutannen, Matti, Benrick, Anna, Maliqueo, Manuel, Stener-Victorin, Elisabet, Ryberg, Henrik and Ohlsson, Claes. (2015). Measurement of a comprehensive sex steroid profile in rodent serum by high-sensitive gas chromatography-tandem mass spectrometry. Endocrinology. 156(7), pp. 2492 - 2502. https://doi.org/10.1210/en.2014-1890
Sleep duration and disturbances were associated with testosterone level, muscle mass, and muscle strength - A cross-sectional study in 1274 older men
Auyeung, Tung Wai, Kwok, Tung Wai, Leung, Jason, Shun Wah Lee, Jenny, Ohlsson, Claes, Vandenput, Liesbeth, Wing, Yun Kwok and Woo, Jean. (2015). Sleep duration and disturbances were associated with testosterone level, muscle mass, and muscle strength - A cross-sectional study in 1274 older men. Journal of the American Medical Directors Association (JAMDA). 16(7), pp. 630.e1 - 630.e6. https://doi.org/10.1016/j.jamda.2015.04.006
Limited clinical utility of a genetic risk score for the prediction of fracture risk in elderly subjects
Eriksson, Joel, Evans, Daniel S., Nielson, Carrie M., Shen, Jian, Srikanth, Priya, Hochberg, Marc, McWeeney, Shannon, Cawthon, Peggy M., Wilmot, Beth, Zmuda, Joseph, Tranah, Greg, Mirel, Daniel B., Challa, Sashi, Mooney, Michael, Crenshaw, Andrew, Karlsson, Magnus, Mellström, Dan, Vandenput, Liesbeth, Orwoll, Eric and Ohlsson, Claes. (2015). Limited clinical utility of a genetic risk score for the prediction of fracture risk in elderly subjects. Journal of Bone and Mineral Research. 30(1), pp. 184 - 194. https://doi.org/10.1002/jbmr.2314
Sex steroid actions in male bone
Vanderschueren, Dirk, Laurent, Michaël R., Claessens, Frank, Gielen, Evelien, Lagerquist, Marie K., Vandenput, Liesbeth, Börjesson, Anna E. and Ohlsson, Claes. (2014). Sex steroid actions in male bone. Endocrine Reviews. 35(6), pp. 906-960. https://doi.org/10.1210/er.2014-1024
Genome-wide association study for radiographic vertebral fractures: A potential role for the 16q24 BMD locus
Oei, Ling, Estrada, Karol, Duncan, Emma L., Christiansen, Claus, Liu, Ching-Ti, Langdahl, Bente L., Obermayer-Pietsch, Barbara, Riancho, José A., Prince, Richard L., van Schoor, Natasja M., McCloskey, Eugene, Hsu, Yi-Hsiang, Evangelou, Evangelos, Ntzani, Evangelia, Evans, David M., Alonso, Nerea, Husted, Lise B., Valero, Carmen, Hernandez, Jose L., ... Rivadeneira, Fernando. (2014). Genome-wide association study for radiographic vertebral fractures: A potential role for the 16q24 BMD locus. Bone. 59, pp. 20 - 27. https://doi.org/10.1016/j.bone.2013.10.015
Serum estradiol levels are inversely associated with cortical porosity in older men
Vandenput, Liesbeth, Lorentzon, Mattias, Sundh, Daniel, Nilsson, Maria E., Karlsson, Magnus K., Mellström, Dan and Ohlsson, Claes. (2014). Serum estradiol levels are inversely associated with cortical porosity in older men. The Journal of Clinical Endocrinology and Metabolism. 99(7), pp. E1322 - E1326. https://doi.org/10.1210/jc.2014-1319
Serum estradiol associates with blood hemoglobin in elderly men: The MrOS Sweden study
Lewerin, Catharina, Nilsson-Ehle, Herman, Jacobsson, Stefan, Johansson, Helena, Sundh, Valter, Karlsson, Magnus K., Lorentzon, Mattias, Barrett-Connor, Elizabeth, Vandenput, Liesbeth, Ohlsson, Claes and Mellström, Dan. (2014). Serum estradiol associates with blood hemoglobin in elderly men: The MrOS Sweden study. The Journal of Clinical Endocrinology and Metabolism. 99(7), pp. 2549 - 2556. https://doi.org/10.1210/jc.2013-4111
Genome-wide association studies on serum sex steroid levels
Vandenput, Liesbeth and Ohlsson, Claes. (2014). Genome-wide association studies on serum sex steroid levels. Molecular and Cellular Endocrinology. 382(1), pp. 758 - 766. https://doi.org/10.1016/j.mce.2013.03.009
Does bone resorption stimulate periosteal expansion? A cross-sectional analysis of β-C-telopeptides of type i collagen (CTX), genetic markers of the RANKL pathway, and periosteal circumference as measured by pQCT
Kemp, John P., Sayers, Adrian, Paternoster, Lavinia, Evans, David M., Deere, Kevin, St. Pourcain, Beate, Timpson, Nicholas J., Ring, Susan M., Lorentzon, Mattias, Lehtimäki, Terho, Eriksson, Joel, Kähönen, Mika, Raitakari, Olli, Laaksonen, Marika, Sievänen, Harri, Viikari, Jorma, Lyytikäinen, Leo-Pekka, Smith, George Davey, Fraser, William D., ... Tobias, Jon H.. (2014). Does bone resorption stimulate periosteal expansion? A cross-sectional analysis of β-C-telopeptides of type i collagen (CTX), genetic markers of the RANKL pathway, and periosteal circumference as measured by pQCT. Journal of Bone and Mineral Research. 29(4), pp. 1015 - 1024. https://doi.org/10.1002/jbmr.2093
Dehydroepiandrosterone and its sulfate predict the 5-year risk of coronary heart disease events in elderly men
Tivesten, Åsa, Vandenput, Liesbeth, Carlzon, Daniel, Nilsson, Maria, Karlsson, Magnus K., Ljunggren, Östen, Barrett-Connor, Elizabeth, Mellström, Dan and Ohlsson, Claes. (2014). Dehydroepiandrosterone and its sulfate predict the 5-year risk of coronary heart disease events in elderly men. Journal of the American College of Cardiology. 64(17), pp. 1801 - 1810. https://doi.org/10.1016/j.jacc.2014.05.076
Genetics of endocrine disorders in the era of genome-wide association studies
Vandenput, Liesbeth and Ohlsson, Claes. (2014). Genetics of endocrine disorders in the era of genome-wide association studies. Molecular and Cellular Endocrinology. 382(1), pp. 725 - 725. https://doi.org/10.1016/j.mce.2013.06.031
Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels
Kwan, Johnny S. H., Hsu, Yi-Hsiang, Cheung, Ching-Lung, Dupuis, Josée, Saint-Pierre, Aude, Eriksson, Joel, Handelman, Samuel K., Aragaki, Aaron K., Karasik, David, Pramstaller, Peter P., Kooperberg, Charles, Lacroix, Andrea Z., Larson, Martin G., Lau, Kam-Shing, Lorentzon, Mattias, Pichler, Irene, Sham, Pak Chung, Taliun, Daniel, Vandenput, Liesbeth, ... Kung, Annie Wai Chee. (2014). Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels. Human Molecular Genetics. 23(24), pp. 6684 - 6693. https://doi.org/10.1093/hmg/ddu386
Genetic determinants of trabecular and cortical volumetric bone mineral densities and bone microstructure
Paternoster, Lavinia, Lorentzon, Mattias, Lehtimäki, Terho, Eriksson, Joel, Kähönen, Mika, Raitakari, Olli, Laaksonen, Marika, Sievänen, Harri, Viikari, Jorma, Lyytikäinen, Leo-Pekka, Mellström, Dan, Karlsson, Magnus, Ljunggren, Östen, Grundberg, Elin, Kemp, John P., Sayers, Adrian, Nethander, Maria, Evans, David M., Vandenput, Liesbeth, ... Ohlsson, Claes. (2013). Genetic determinants of trabecular and cortical volumetric bone mineral densities and bone microstructure. PLoS Genetics. 9(2), pp. 1 - 15. https://doi.org/10.1371/journal.pgen.1003247
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture
Berndt, Sonja I., Gustafsson, Stefan, Mägi, Reedik, Ganna, Andrea, Wheeler, Eleanor, Feitosa, Mary F., Justice, Anne E., Monda, Keri L., Croteau-Chonka, Damien C., Day, Felix R., Esko, Tonu, Fall, Tove, Ferreira, Teresa, Gentilini, Davide, Jackson, Anne U., Luan, Jianan, Randall, Joshua C., Vedantam, Sailaja, Willer, Cristen J., ... Lorentzon, Mattias. (2013). Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nature Genetics. 45, pp. 501 - 512. https://doi.org/10.1038/ng.2606
Comparisons of immunoassay and mass spectrometry measurements of serum estradiol levels and their influence on clinical association studies in men
Ohlsson, Claes, Nilsson, Maria E., Tivesten, Åsa, Ryberg, Henrik, Mellström, Dan, Karlsson, Magnus K., Ljunggren, Östen, Labrie, Fernand, Orwoll, Eric S., Lee, David M., Pye, Stephen R., O'Neill, Terence W., Finn, Joseph D., Adams, Judith E., Ward, Kate A., Boonen, Steven, Bartfai, Gyorgy, Casanueva, Felipe F., Forti, Gianni, ... EMAS Study Group. (2013). Comparisons of immunoassay and mass spectrometry measurements of serum estradiol levels and their influence on clinical association studies in men. The Journal of Clinical Endocrinology and Metabolism. 98(6), pp. e1097 - e1102. https://doi.org/10.1210/jc.2012-3861
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture
Estrada, Karol, Styrkarsdottir, Unnur, Evangelou, Evangelos, Hsu, Yi-Hsiang, Duncan, Emma L., Ntzani, Evangelia E., Oei, Ling, Albagha, Omar M. E., Amin, Najaf, Kemp, John P., Koller, Daniel L., Li, Guo, Liu, Ching-Ti, Minster, Ryan L., Moayyeri, Alireza, Vandenput, Liesbeth, Willner, Dana, Xiao, Su-Mei, Yerges-Armstrong, Laura M., ... Rivadeneira, Fernando. (2012). Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nature Genetics. 44(5), pp. 491-503. https://doi.org/10.1038/ng.2249
WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk
Zheng, Hou-Feng, Tobias, Jon H., Duncan, Emma, Evans, David M., Eriksson, Joel, Paternoster, Lavinia, Yerges-Armstrong, Laura M., Lehtimäki, Terho, Bergström, Ulrica, Kähönen, Mika, Leo, Paul J., Raitakari, Olli, Laaksonen, Marika, Nicholson, Geoffrey C., Viikari, Jorma, Ladouceur, Martin, Lehtimäki, Leo-Pekka, Medina-Gomez, Carolina, Rivadeneira, Fernando, ... Lorentzon, Mattias. (2012). WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk. PLoS Genetics. 8(7), pp. 1 - 13. https://doi.org/10.1371/journal.pgen.1002745
The role of IGF-1 for fracture risk in men
Vandenput, Liesbeth, Sjögren, Klara, Svensson, Johan and Ohlsson, Claes. (2012). The role of IGF-1 for fracture risk in men. Frontiers in Endocrinology. 3, pp. 1 - 3. https://doi.org/10.3389/fendo.2012.00051
Sex steroids and bone health in men
Ohlsson, Claes, Börjesson, Anna E. and Vandenput, Liesbeth. (2012). Sex steroids and bone health in men. BoneKEy Reports. 1(2), pp. 1 - 7. https://doi.org/10.1038/bonekey.2012.3
Sex steroids and bone health in older Chinese men
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Meta-analysis of genome-wide scans for total body BMD in children and adults reveals allelic heterogeneity and age-specific effects at the WNT16 locus
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