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Cited by 416

The DOI matches its Crossref record; 28 of the 28 references it cites were found in a registry or an index.

Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits

Open access
Randall, Joshua C., Winkler, Thomas W., Kutalik, Zoltán, Berndt, Sonja I., Jackson, Anne U., Monda, Keri L., Kilpeläinen, Tuomas O., Esko, Tõnu, Mägi, Reedik, Li, Shengxu, Workalemahu, Tsegaselassie, Feitosa, Mary F., Croteau-Chonka, Damien C., Day, Felix R., Fall, Tove, Ferreira, Teresa, Gustafsson, Stefan, Locke, Adam E., Mathieson, Iain, Scherag, Andre, Vedantam, Sailaja, Wood, Andrew R., Liang, Liming, Steinthorsdottir, Valgerdur, Thorleifsson, Gudmar, Dermitzakis, Emmanouil T., Dimas, Antigone S., Karpe, Fredrik, Min, Josine L., Nicholson, George, Clegg, Deborah J., Person, Thomas, Krohn, Jon P., Bauer, Sabrina, Buechler, Christa, Eisinger, Kristina, DIAGRAM Consortium, Bonnefond, Amélie, Froguel, Philippe, MAGIC Investigators, Hottenga, Jouke-Jan, Prokopenko, Inga, Waite, Lindsay L., Harris, Tamara B., Smith, Albert Vernon, Shuldiner, Alan R., McArdle, Wendy L., Caulfield, Mark J., Munroe, Patricia B., Grönberg, Henrik, Chen, Yii-Der Ida, Li, Guo, Beckmann, Jacques S., Johnson, Toby, Thorsteinsdottir, Unnur, Teder-Laving, Maris, Khaw, Kay-Tee, Wareham, Nicholas J., Zhao, Jing Hua, Amin, Najaf, Oostra, Ben A., Kraja, Aldi T., Province, Michael A., Cupples, L. Adrienne, Heard-Costa, Nancy L., Kaprio, Jaakko, Ripatti, Samuli, Surakka, Ida, Collins, Francis S., Saramies, Jouko, Tuomilehto, Jaakko, Jula, Antti, Salomaa, Veikko, Erdmann, Jeanette, Hengstenberg, Christian, Loley, Christina, Schunkert, Heribert, Lamina, Claudia, Wichmann, H. Erich, Albrecht, Eva, Gieger, Christian, Hicks, Andrew A., Johansson, Åsa, Pramstaller, Peter P., Kathiresan, Sekar, Speliotes, Elizabeth K., Penninx, Brenda, Hartikainen, Anna-Liisa, Jarvelin, Marjo-Riitta, Gyllensten, Ulf, Boomsma, Dorret I., Campbell, Harry, Wilson, James F., Chanock, Stephen J., Farrall, Martin, Goel, Anuj, Medina-Gomez, Carolina, Rivadeneira, Fernando, Estrada, Karol, Uitterlinden, André G., Hofman, Albert, Zillikens, M. Carola, den Heijer, Martin, Kiemeney, Lambertus A., Maschio, Andrea, Hall, Per, Tyrer, Jonathan, Teumer, Alexander, Völzke, Henry, Kovacs, Peter, Tönjes, Anke, Mangino, Massimo, Spector, Tim D., Hayward, Caroline, Rudan, Igor, Hall, Alistair S., Samani, Nilesh J., Attwood, Antony Paul, Sambrook, Jennifer G., Hung, Joseph, Palmer, Lyle J., Lokki, Marja-Liisa, Sinisalo, Juha, Boucher, Gabrielle, Huikuri, Heikki, Lorentzon, Mattias, Ohlsson, Claes, Eklund, Niina, Eriksson, Johan G., Barlassina, Cristina, Rivolta, Carlo, Nolte, Ilja M., Snieder, Harold, Van der Klauw, Melanie M., Van Vliet-Ostaptchouk, Jana V., Gejman, Pablo V., Shi, Jianxin, Jacobs, Kevin B., Wang, Zhaoming, Bakker, Stephan J. L., Mateo Leach, Irene, Navis, Gerjan, van der Harst, Pim, Martin, Nicholas G., Medland, Sarah E., Montgomery, Grant W., Yang, Jian, Chasman, Daniel I., Ridker, Paul M., Rose, Lynda M., Lehtimäki, Terho, Raitakari, Olli, Absher, Devin, Iribarren, Carlos, Basart, Hanneke, Hovingh, Kees G., Hyppönen, Elina, Power, Chris, Anderson, Denise, Beilby, John P., Hui, Jennie, Jolley, Jennifer, Sager, Hendrik, Bornstein, Stefan R., Schwarz, Peter E. H., Kristiansson, Kati, Perola, Markus, Lindström, Jaana, Swift, Amy J., Uusitupa, Matti, Atalay, Mustafa, Lakka, Timo A., Rauramaa, Rainer, Bolton, Jennifer L., Fowkes, Gerry, Fraser, Ross M., Price, Jackie F., Fischer, Krista, KrjutÅ¡kov, Kaarel, Metspalu, Andres, Mihailov, Evelin, Langenberg, Claudia, Luan, Jian'an, Ong, Ken K., Chines, Peter S., Keinanen-Kiukaanniemi, Sirkka M., Saaristo, Timo E., Edkins, Sarah, Franks, Paul W., Hallmans, Göran, Shungin, Dmitry, Morris, Andrew David, Palmer, Colin N. A., Erbel, Raimund, Moebus, Susanne, Nöthen, Markus M., Pechlivanis, Sonali, Hveem, Kristian, Narisu, Narisu, Hamsten, Anders, Humphries, Steve E., Strawbridge, Rona J., Tremoli, Elena, Grallert, Harald, Thorand, Barbara, Illig, Thomas, Koenig, Wolfgang, Müller-Nurasyid, Martina, Peters, Annette, Boehm, Bernhard O., Kleber, Marcus E., März, Winfried, Winkelmann, Bernhard R., Kuusisto, Johanna, Laakso, Markku, Arveiler, Dominique, Cesana, Giancarlo, Kuulasmaa, Kari, Virtamo, Jarmo, Yarnell, John W. G., Kuh, Diana, Wong, Andrew, Lind, Lars, de Faire, Ulf, Gigante, Bruna, Magnusson, Patrik K. E., Pedersen, Nancy L., Dedoussis, George, Dimitriou, Maria, Kolovou, Genovefa, Kanoni, Stavroula, Stirrups, Kathleen, Bonnycastle, Lori L., Njølstad, Inger, Wilsgaard, Tom, Ganna, Andrea, Rehnberg, Emil, Hingorani, Aroon, Kivimaki, Mika, Kumari, Meena, Assimes, Themistocles L., Barroso, Inês, Boehnke, Michael, Borecki, Ingrid B., Deloukas, Panos, Fox, Caroline S., Frayling, Timothy, Groop, Leif C., Haritunians, Talin, Hunter, David, Ingelsson, Erik, Kaplan, Robert, Mohlke, Karen L., O'Connell, Jeffrey R., Schlessinger, David, Strachan, David P., Stefansson, Kari, van Duijn, Cornelia M., Abecasis, Gonçalo R., McCarthy, Mark I., Hirschhorn, Joel N., Qi, Lu, Loos, Ruth J. F., Lindgren, Cecilia M., North, Kari E., Heid, Iris M.·2013·PLoS Genetics

Abstract

Given the anthropometric differences between men and women and previous evidence of sex-difference in genetic effects, we conducted a genome-wide search for sexually dimorphic associations with height, weight, body mass index, waist circumference, hip circumference, and waist-to-hip-ratio (133,723 individuals) and took forward 348 SNPs into follow-up (additional 137,052 individuals) in a total of 94 studies. Seven loci displayed significant sex-difference (FDR<5%), including four previously established (near GRB14/COBLL1, LYPLAL1/SLC30A10, VEGFA, ADAMTS9) and three novel anthropometric trait loci (near MAP3K1, HSD17B4, PPARG), all of which were genome-wide significant in women (P<5×10(-8)), but not in men. Sex-differences were apparent only for waist phenotypes, not for height, weight, BMI, or hip circumference. Moreover, we found no evidence for genetic effects with opposite directions in men versus women. The PPARG locus is of specific interest due to its role in diabetes genetics and therapy. Our results demonstrate the value of sex-specific GWAS to unravel the sexually dimorphic genetic underpinning of complex traits.

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Authors
Randall, J. C., Winkler, T. W., Kutalik, Z., Berndt, S. I., Jackson, A. U., Monda, K. L., Kilpeläinen, T. O., Esko, T., Mägi, R., Li, S., Workalemahu, T., Feitosa, M. F., Croteau-Chonka, D. C., Day, F. R., Fall, T., Ferreira, T., Gustafsson, S., Locke, A. E., Mathieson, I., Scherag, A., Vedantam, S., Wood, A. R., Liang, L., Steinthorsdottir, V., Thorleifsson, G., Dermitzakis, E. T., Dimas, A. S., Karpe, F., Min, J. L., Nicholson, G., Clegg, D. J., Person, T., Krohn, J. P., Bauer, S., Buechler, C., Eisinger, K., DIAGRAM Consortium, Bonnefond, A., Froguel, P., MAGIC Investigators, Hottenga, J.-J., Prokopenko, I., Waite, L. L., Harris, T. B., Smith, A. V., Shuldiner, A. R., McArdle, W. L., Caulfield, M. J., Munroe, P. B., Grönberg, H., Chen, Y.-D. I., Li, G., Beckmann, J. S., Johnson, T., Thorsteinsdottir, U., Teder-Laving, M., Khaw, K.-T., Wareham, N. J., Zhao, J. H., Amin, N., Oostra, B. A., Kraja, A. T., Province, M. A., Cupples, L. A., Heard-Costa, N. L., Kaprio, J., Ripatti, S., Surakka, I., Collins, F. S., Saramies, J., Tuomilehto, J., Jula, A., Salomaa, V., Erdmann, J., Hengstenberg, C., Loley, C., Schunkert, H., Lamina, C., Wichmann, H. E., Albrecht, E., Gieger, C., Hicks, A. A., Johansson, Å., Pramstaller, P. P., Kathiresan, S., Speliotes, E. K., Penninx, B., Hartikainen, A.-L., Jarvelin, M.-R., Gyllensten, U., Boomsma, D. I., Campbell, H., Wilson, J. F., Chanock, S. J., Farrall, M., Goel, A., Medina-Gomez, C., Rivadeneira, F., Estrada, K., Uitterlinden, A. G., Hofman, A., Zillikens, M. C., den Heijer, M., Kiemeney, L. A., Maschio, A., Hall, P., Tyrer, J., Teumer, A., Völzke, H., Kovacs, P., Tönjes, A., Mangino, M., Spector, T. D., Hayward, C., Rudan, I., Hall, A. S., Samani, N. J., Attwood, A. P., Sambrook, J. G., Hung, J., Palmer, L. J., Lokki, M.-L., Sinisalo, J., Boucher, G., Huikuri, H., Lorentzon, M., Ohlsson, C., Eklund, N., Eriksson, J. G., Barlassina, C., Rivolta, C., Nolte, I. M., Snieder, H., Van der Klauw, M. M., Van Vliet-Ostaptchouk, J. V., Gejman, P. V., Shi, J., Jacobs, K. B., Wang, Z., Bakker, S. J. L., Mateo Leach, I., Navis, G., van der Harst, P., Martin, N. G., Medland, S. E., Montgomery, G. W., Yang, J., Chasman, D. I., Ridker, P. M., Rose, L. M., Lehtimäki, T., Raitakari, O., Absher, D., Iribarren, C., Basart, H., Hovingh, K. G., Hyppönen, E., Power, C., Anderson, D., Beilby, J. P., Hui, J., Jolley, J., Sager, H., Bornstein, S. R., Schwarz, P. E. H., Kristiansson, K., Perola, M., Lindström, J., Swift, A. J., Uusitupa, M., Atalay, M., Lakka, T. A., Rauramaa, R., Bolton, J. L., Fowkes, G., Fraser, R. M., Price, J. F., Fischer, K., KrjutÅ¡kov, K., Metspalu, A., Mihailov, E., Langenberg, C., Luan, J., Ong, K. K., Chines, P. S., Keinanen-Kiukaanniemi, S. M., Saaristo, T. E., Edkins, S., Franks, P. W., Hallmans, G., Shungin, D., Morris, A. D., Palmer, C. N. A., Erbel, R., Moebus, S., Nöthen, M. M., Pechlivanis, S., Hveem, K., Narisu, N., Hamsten, A., Humphries, S. E., Strawbridge, R. J., Tremoli, E., Grallert, H., Thorand, B., Illig, T., Koenig, W., Müller-Nurasyid, M., Peters, A., Boehm, B. O., Kleber, M. E., März, W., Winkelmann, B. R., Kuusisto, J., Laakso, M., Arveiler, D., Cesana, G., Kuulasmaa, K., Virtamo, J., Yarnell, J. W. G., Kuh, D., Wong, A., Lind, L., de Faire, U., Gigante, B., Magnusson, P. K. E., Pedersen, N. L., Dedoussis, G., Dimitriou, M., Kolovou, G., Kanoni, S., Stirrups, K., Bonnycastle, L. L., Njølstad, I., Wilsgaard, T., Ganna, A., Rehnberg, E., Hingorani, A., Kivimaki, M., Kumari, M., Assimes, T. L., Barroso, I., Boehnke, M., Borecki, I. B., Deloukas, P., Fox, C. S., Frayling, T., Groop, L. C., Haritunians, T., Hunter, D., Ingelsson, E., Kaplan, R., Mohlke, K. L., O'Connell, J. R., Schlessinger, D., Strachan, D. P., Stefansson, K., van Duijn, C. M., Abecasis, G. R., McCarthy, M. I., Hirschhorn, J. N., Qi, L., Loos, R. J. F., Lindgren, C. M., North, K. E., & Heid, I. M.
Venue
PLoS Genetics
Published
2013-06-06
Volume
9
Issue
6
Pages
e1003500
ISSN
  • 1553-7390 (ISSN-L)
  • 1553-7404
OpenAlex
W2147774366
Cited by
416
References
28
FWCI
23.27
Type
journal article
Language
en
Open access
gold

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CoChat. (2026). Citation check: Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits. https://app.cochat.ai/papers/10.1371/journal.pgen.1003500
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Randall, J. C., Winkler, T. W., Kutalik, Z., Berndt, S. I., Jackson, A. U., Monda, K. L., Kilpeläinen, T. O., Esko, T., Mägi, R., Li, S., Workalemahu, T., Feitosa, M. F., Croteau-Chonka, D. C., Day, F. R., Fall, T., Ferreira, T., Gustafsson, S., Locke, A. E., Mathieson, I., . . . Heid, I. M. (2013). Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits. PLoS Genetics. https://doi.org/10.1371/journal.pgen.1003500

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