Directional dominance on stature and cognition in diverse human populations

Joshi, Peter K., Esko, Tonu, Mattsson, Hannele, Eklund, Niina, Gandin, Ilaria, Nutile, Teresa, Jackson, Anne U., Schurmann, Claudia, Smith, Albert V., Zhang, Weihua, Okada, Yukinori, Stancakova, Alena, Faul, Jessica D., Zhao, Wei, Bartz, Traci M., Concas, Maria Pina, Franceschini, Nora, Enroth, Stefan, Vitart, Veronique, Trompet, Stella, Guo, Xiuqing, Chasman, Daniel I., O'Connel, Jeffrey R., Corre, Tanguy, Nongmaithem, Suraj S., Chen, Yuning, Mangino, Massimo, Ruggiero, Daniela, Traglia, Michela, Farmaki, Aliki-Eleni, Kacprowski, Tim, Bjonnes, Andrew, van der Spek, Ashley, Wu, Ying, Giri, Anil K., Yanek, Lisa R., Wang, Lihua, Hofer, Edith, Rietveld, Cornelius A., McLeod, Olga, Cornelis, Marilyn C., Pattaro, Cristian, Verweij, Niek, Baumbach, Clemens, Abdellaoui, Abdel, Warren, Helen R., Vuckovic, Dragana, Mei, Hao, Bouchard, Claude, Perry, John R. B., Cappellani, Stefania, Mirza, Saira S., Benton, Miles C., Broeckel, Ulrich, Medland, Sarah E., Lind, PenelopeA., Malerba, Giovanni, Drong, Alexander, Yengo, Loic, Bielak, Lawrence F., Zhi, Degui, van der Most, Peter J., Shriner, Daniel, Maegi, Reedik, Hemani, Gibran, Karaderi, Tugce, Wang, Zhaoming, Liu, Tian, Demuth, Ilja, Zhao, Jing Hua, Meng, Weihua, Lataniotis, Lazaros, van der Laan, Sander W., Bradfield, Jonathan P., Wood, Andrew R., Bonnefond, Amelie, Ahluwalia, Tarunveer S., Hall, LeanneM., Salvi, Erika, Yazar, Seyhan, Carstensen, Lisbeth, de Haan, Hugoline G., Abney, Mark, Afzal, Uzma, Allison, Matthew A., Amin, Najaf, Asselbergs, Folkert W., Bakker, Stephan J. L., Barr, R. Graham, Baumeister, Sebastian E., Benjamin, Daniel J., Bergmann, Sven, Boerwinkle, Eric, Bottinger, Erwin P., Campbell, Archie, Chakravarti, Aravinda, Chan, Yingleong, Chanock, Stephen J., Chen, Constance, Chen, Y. -D. Ida, Collins, Francis S., Connell, John, Correa, Adolfo, Cupples, L. Adrienne, Smith, George Davey, Davies, Gail, Doerr, Marcus, Ehret, Georg, Ellis, Stephen B., Feenstra, Bjarke, Feitosa, Mary F., Ford, Ian, Fox, Caroline S., Frayling, Timothy M., Friedrich, Nele, Geller, Frank, Scotland, Generation, Gillham-Nasenya, Irina, Gottesman, Omri, Graff, Misa, Grodstein, Francine, Gu, Charles, Haley, Chris, Hammond, Christopher J., Harris, Sarah E., Harris, Tamara B., Hastie, Nicholas D., Heard-Costa, Nancy L., Heikkila, Kauko, Hocking, Lynne J., Homuth, Georg, Hottenga, Jouke-Jan, Huang, Jinyan, Huffman, Jennifer E., Hysi, Pirro G., Ikram, M. Arfan, Ingelsson, Erik, Joensuu, Anni, Johansson, Asa, Jousilahti, Pekka, Jukema, J. Wouter, Kahonen, Mika, Kamatani, Yoichiro, Kanoni, Stavroula, Kerr, Shona M., Khan, Nazir M., Koellinger, Philipp, Koistinen, Heikki A., Kooner, Manraj K., Kubo, Michiaki, Kuusisto, Johanna, Lahti, Jari, Launer, Lenore J., Lea, Rodney A., Lehne, Benjamin, Lehtimaki, Terho, Liewald, David C. M., Lind, Lars, Loh, Marie, Lokki, Marja-Liisa, London, Stephanie J., Loomis, Stephanie J., Loukola, Anu, Lu, Yingchang, Lumley, Thomas, Lundqvist, Annamari, Mannisto, Satu, Marques-Vidal, Pedro, Masciullo, Corrado, Matchan, Angela, Mathias, Rasika A., Matsuda, Koichi, Meigs, James B., Meisinger, Christa, Meitinger, Thomas, Menni, Cristina, Mentch, Frank D., Mihailov, Evelin, Milani, Lili, Montasser, May E., Montgomery, GrantW., Morrison, Alanna, Myers, Richard H., Nadukuru, Rajiv, Navarro, Pau, Nelis, Mari, Nieminen, Markku S., Nolte, Ilja M., O'Connor, George T., Ogunniyi, Adesola, Padmanabhan, Sandosh, Palmas, Walter R., Pankow, James S., Patarcic, Inga, Pavani, Francesca, Peyser, Patricia A., Pietilainen, Kirsi, Poulter, Neil, Prokopenko, Inga, Ralhan, Sarju, Redmond, Paul, Rich, Stephen S., Rissanen, Harri, Robino, Antonietta, Rose, Lynda M., Rose, Richard, Sala, Cinzia, Salako, Babatunde, Salomaa, Veikko, Sarin, Antti-Pekka, Saxena, Richa, Schmidt, Helena, Scott, Laura J., Scott, William R., Sennblad, Bengt, Seshadri, Sudha, Sever, Peter, Shrestha, Smeeta, Smith, Blair H., Smith, Jennifer A., Soranzo, Nicole, Sotoodehnia, Nona, Southam, Lorraine, Stanton, Alice V., Stathopoulou, Maria G., Strauch, Konstantin, Strawbridge, Rona J., Suderman, Matthew J., Tandon, Nikhil, Tang, Sian-Tsun, Taylor, Kent D., Tayo, Bamidele O., Toeglhofer, Anna Maria, Tomaszewski, Maciej, Tsernikova, Natalia, Tuomilehto, Jaakko, Uitterlinden, Andre G., Vaidya, Dhananjay, Vlieg, Astrid van Hylckama, van Setten, Jessica, Vasankari, Tuula, Vedantam, Sailaja, Vlachopoulou, Efthymia, Vozzi, Diego, Vuoksimaa, Eero, Waldenberger, Melanie, Ware, Erin B., Wentworth-Shields, William, Whitfield, John B., Wild, Sarah, Willemsen, Gonneke, Yajnik, Chittaranjan S., Yao, Jie, Zaza, Gianluigi, Zhu, Xiaofeng, Salem, Rany M., Melbye, Mads, Bisgaard, Hans, Samani, Nilesh J., Cusi, Daniele, Mackey, David A., Cooper, Richard S., Froguel, Philippe, Pasterkamp, Gerard, Grant, Struan F. A., Hakonarson, Hakon, Ferrucci, Luigi, Scott, Robert A., Morris, Andrew D., Palmer, Colin N. A., Dedoussis, George, Deloukas, Panos, Bertram, Lars, Lindenberger, Ulman, Berndt, Sonja I., Lindgren, Cecilia M., Timpson, Nicholas J., Toenjes, Anke, Munroe, Patricia B., Sorensen, Thorkild I. A., Rotimi, Charles N., Arnett, Donna K., Oldehinkel, Albertine J., Kardia, Sharon L. R., Balkau, Beverley, Gambaro, Giovanni, Morris, Andrew P., Eriksson, Johan G., Wright, Margie J., Martin, Nicholas G., Hunt, Steven C., Starr, John M., Deary, Ian J., Griffiths, Lyn R., Tiemeier, Henning, Pirastu, Nicola, Kaprio, Jaakko, Wareham, Nicholas J., Perusse, Louis, Wilson, James G., Girotto, Giorgia, Caulfield, Mark J., Raitakari, Olli, Boomsma, Dorret I., Gieger, Christian, van der Harst, Pim, Hicks, Andrew A., Kraft, Peter, Sinisalo, Juha, Knekt, Paul, Johannesson, Magnus, Magnusson, Patrik K. E., Hamsten, Anders, Schmidt, Reinhold, Borecki, Ingrid B., Vartiainen, Erkki, Becker, Diane M., Bharadwaj, Dwaipayan, Mohlke, Karen L., Boehnke, Michael, van Duijn, Cornelia M., Sanghera, Dharambir K., Teumer, Alexander, Zeggini, Eleftheria, Metspalu, Andres, Gasparini, Paolo, Ulivi, Sheila, Ober, Carole, Toniolo, Daniela, Rudan, Igor, Porteous, David J., Ciullo, Marina, Spector, Tim D., Hayward, Caroline, Dupuis, Josee, Loos, Ruth J. F., Wright, Alan F., Chandak, Giriraj R., Vollenweider, Peter, Shuldiner, Alan R., Ridker, Paul M., Rotter, Jerome I., Sattar, Naveed, Gyllensten, Ulf, North, Kari E., Pirastu, Mario, Psaty, Bruce M., Weir, David R., Laakso, Markku, Gudnason, Vilmundur, Takahashi, Atsushi, Chambers, John C., Kooner, Jaspal S., Strachan, David P., Campbell, Harry, Hirschhorn, Joel N., Perola, Markus, Polasek, Ozren and Wilson, James F. (2015) Directional dominance on stature and cognition in diverse human populations. Nature, 523 7561: 459-462. doi:10.1038/nature14618


Author Joshi, Peter K.
Esko, Tonu
Mattsson, Hannele
Eklund, Niina
Gandin, Ilaria
Nutile, Teresa
Jackson, Anne U.
Schurmann, Claudia
Smith, Albert V.
Zhang, Weihua
Okada, Yukinori
Stancakova, Alena
Faul, Jessica D.
Zhao, Wei
Bartz, Traci M.
Concas, Maria Pina
Franceschini, Nora
Enroth, Stefan
Vitart, Veronique
Trompet, Stella
Guo, Xiuqing
Chasman, Daniel I.
O'Connel, Jeffrey R.
Corre, Tanguy
Nongmaithem, Suraj S.
Chen, Yuning
Mangino, Massimo
Ruggiero, Daniela
Traglia, Michela
Farmaki, Aliki-Eleni
Kacprowski, Tim
Bjonnes, Andrew
van der Spek, Ashley
Wu, Ying
Giri, Anil K.
Yanek, Lisa R.
Wang, Lihua
Hofer, Edith
Rietveld, Cornelius A.
McLeod, Olga
Cornelis, Marilyn C.
Pattaro, Cristian
Verweij, Niek
Baumbach, Clemens
Abdellaoui, Abdel
Warren, Helen R.
Vuckovic, Dragana
Mei, Hao
Bouchard, Claude
Perry, John R. B.
Cappellani, Stefania
Mirza, Saira S.
Benton, Miles C.
Broeckel, Ulrich
Medland, Sarah E.
Lind, PenelopeA.
Malerba, Giovanni
Drong, Alexander
Yengo, Loic
Bielak, Lawrence F.
Zhi, Degui
van der Most, Peter J.
Shriner, Daniel
Maegi, Reedik
Hemani, Gibran
Karaderi, Tugce
Wang, Zhaoming
Liu, Tian
Demuth, Ilja
Zhao, Jing Hua
Meng, Weihua
Lataniotis, Lazaros
van der Laan, Sander W.
Bradfield, Jonathan P.
Wood, Andrew R.
Bonnefond, Amelie
Ahluwalia, Tarunveer S.
Hall, LeanneM.
Salvi, Erika
Yazar, Seyhan
Carstensen, Lisbeth
de Haan, Hugoline G.
Abney, Mark
Afzal, Uzma
Allison, Matthew A.
Amin, Najaf
Asselbergs, Folkert W.
Bakker, Stephan J. L.
Barr, R. Graham
Baumeister, Sebastian E.
Benjamin, Daniel J.
Bergmann, Sven
Boerwinkle, Eric
Bottinger, Erwin P.
Campbell, Archie
Chakravarti, Aravinda
Chan, Yingleong
Chanock, Stephen J.
Chen, Constance
Chen, Y. -D. Ida
Collins, Francis S.
Connell, John
Correa, Adolfo
Cupples, L. Adrienne
Smith, George Davey
Davies, Gail
Doerr, Marcus
Ehret, Georg
Ellis, Stephen B.
Feenstra, Bjarke
Feitosa, Mary F.
Ford, Ian
Fox, Caroline S.
Frayling, Timothy M.
Friedrich, Nele
Geller, Frank
Scotland, Generation
Gillham-Nasenya, Irina
Gottesman, Omri
Graff, Misa
Grodstein, Francine
Gu, Charles
Haley, Chris
Hammond, Christopher J.
Harris, Sarah E.
Harris, Tamara B.
Hastie, Nicholas D.
Heard-Costa, Nancy L.
Heikkila, Kauko
Hocking, Lynne J.
Homuth, Georg
Hottenga, Jouke-Jan
Huang, Jinyan
Huffman, Jennifer E.
Hysi, Pirro G.
Ikram, M. Arfan
Ingelsson, Erik
Joensuu, Anni
Johansson, Asa
Jousilahti, Pekka
Jukema, J. Wouter
Kahonen, Mika
Kamatani, Yoichiro
Kanoni, Stavroula
Kerr, Shona M.
Khan, Nazir M.
Koellinger, Philipp
Koistinen, Heikki A.
Kooner, Manraj K.
Kubo, Michiaki
Kuusisto, Johanna
Lahti, Jari
Launer, Lenore J.
Lea, Rodney A.
Lehne, Benjamin
Lehtimaki, Terho
Liewald, David C. M.
Lind, Lars
Loh, Marie
Lokki, Marja-Liisa
London, Stephanie J.
Loomis, Stephanie J.
Loukola, Anu
Lu, Yingchang
Lumley, Thomas
Lundqvist, Annamari
Mannisto, Satu
Marques-Vidal, Pedro
Masciullo, Corrado
Matchan, Angela
Mathias, Rasika A.
Matsuda, Koichi
Meigs, James B.
Meisinger, Christa
Meitinger, Thomas
Menni, Cristina
Mentch, Frank D.
Mihailov, Evelin
Milani, Lili
Montasser, May E.
Montgomery, GrantW.
Morrison, Alanna
Myers, Richard H.
Nadukuru, Rajiv
Navarro, Pau
Nelis, Mari
Nieminen, Markku S.
Nolte, Ilja M.
O'Connor, George T.
Ogunniyi, Adesola
Padmanabhan, Sandosh
Palmas, Walter R.
Pankow, James S.
Patarcic, Inga
Pavani, Francesca
Peyser, Patricia A.
Pietilainen, Kirsi
Poulter, Neil
Prokopenko, Inga
Ralhan, Sarju
Redmond, Paul
Rich, Stephen S.
Rissanen, Harri
Robino, Antonietta
Rose, Lynda M.
Rose, Richard
Sala, Cinzia
Salako, Babatunde
Salomaa, Veikko
Sarin, Antti-Pekka
Saxena, Richa
Schmidt, Helena
Scott, Laura J.
Scott, William R.
Sennblad, Bengt
Seshadri, Sudha
Sever, Peter
Shrestha, Smeeta
Smith, Blair H.
Smith, Jennifer A.
Soranzo, Nicole
Sotoodehnia, Nona
Southam, Lorraine
Stanton, Alice V.
Stathopoulou, Maria G.
Strauch, Konstantin
Strawbridge, Rona J.
Suderman, Matthew J.
Tandon, Nikhil
Tang, Sian-Tsun
Taylor, Kent D.
Tayo, Bamidele O.
Toeglhofer, Anna Maria
Tomaszewski, Maciej
Tsernikova, Natalia
Tuomilehto, Jaakko
Uitterlinden, Andre G.
Vaidya, Dhananjay
Vlieg, Astrid van Hylckama
van Setten, Jessica
Vasankari, Tuula
Vedantam, Sailaja
Vlachopoulou, Efthymia
Vozzi, Diego
Vuoksimaa, Eero
Waldenberger, Melanie
Ware, Erin B.
Wentworth-Shields, William
Whitfield, John B.
Wild, Sarah
Willemsen, Gonneke
Yajnik, Chittaranjan S.
Yao, Jie
Zaza, Gianluigi
Zhu, Xiaofeng
Salem, Rany M.
Melbye, Mads
Bisgaard, Hans
Samani, Nilesh J.
Cusi, Daniele
Mackey, David A.
Cooper, Richard S.
Froguel, Philippe
Pasterkamp, Gerard
Grant, Struan F. A.
Hakonarson, Hakon
Ferrucci, Luigi
Scott, Robert A.
Morris, Andrew D.
Palmer, Colin N. A.
Dedoussis, George
Deloukas, Panos
Bertram, Lars
Lindenberger, Ulman
Berndt, Sonja I.
Lindgren, Cecilia M.
Timpson, Nicholas J.
Toenjes, Anke
Munroe, Patricia B.
Sorensen, Thorkild I. A.
Rotimi, Charles N.
Arnett, Donna K.
Oldehinkel, Albertine J.
Kardia, Sharon L. R.
Balkau, Beverley
Gambaro, Giovanni
Morris, Andrew P.
Eriksson, Johan G.
Wright, Margie J.
Martin, Nicholas G.
Hunt, Steven C.
Starr, John M.
Deary, Ian J.
Griffiths, Lyn R.
Tiemeier, Henning
Pirastu, Nicola
Kaprio, Jaakko
Wareham, Nicholas J.
Perusse, Louis
Wilson, James G.
Girotto, Giorgia
Caulfield, Mark J.
Raitakari, Olli
Boomsma, Dorret I.
Gieger, Christian
van der Harst, Pim
Hicks, Andrew A.
Kraft, Peter
Sinisalo, Juha
Knekt, Paul
Johannesson, Magnus
Magnusson, Patrik K. E.
Hamsten, Anders
Schmidt, Reinhold
Borecki, Ingrid B.
Vartiainen, Erkki
Becker, Diane M.
Bharadwaj, Dwaipayan
Mohlke, Karen L.
Boehnke, Michael
van Duijn, Cornelia M.
Sanghera, Dharambir K.
Teumer, Alexander
Zeggini, Eleftheria
Metspalu, Andres
Gasparini, Paolo
Ulivi, Sheila
Ober, Carole
Toniolo, Daniela
Rudan, Igor
Porteous, David J.
Ciullo, Marina
Spector, Tim D.
Hayward, Caroline
Dupuis, Josee
Loos, Ruth J. F.
Wright, Alan F.
Chandak, Giriraj R.
Vollenweider, Peter
Shuldiner, Alan R.
Ridker, Paul M.
Rotter, Jerome I.
Sattar, Naveed
Gyllensten, Ulf
North, Kari E.
Pirastu, Mario
Psaty, Bruce M.
Weir, David R.
Laakso, Markku
Gudnason, Vilmundur
Takahashi, Atsushi
Chambers, John C.
Kooner, Jaspal S.
Strachan, David P.
Campbell, Harry
Hirschhorn, Joel N.
Perola, Markus
Polasek, Ozren
Wilson, James F.
Title Directional dominance on stature and cognition in diverse human populations
Journal name Nature   Check publisher's open access policy
ISSN 1476-4687
0028-0836
Publication date 2015-07
Sub-type Article (original research)
DOI 10.1038/nature14618
Volume 523
Issue 7561
Start page 459
End page 462
Total pages 4
Place of publication London, United Kingdom
Publisher Nature Publishing Group
Collection year 2016
Language eng
Formatted abstract
Homozygosity has long been associated with rare, often devastating, Mendelian disorders1, and Darwin was one of the first to recognize that inbreeding reduces evolutionary fitness2. However, the effect of the more distant parental relatedness that is common in modern human populations is less well understood. Genomic data now allow us to investigate the effects of homozygosity on traits of public health importance by observing contiguous homozygous segments (runs of homozygosity), which are inferred to be homozygous along their complete length. Given the low levels of genome-wide homozygosity prevalent in most human populations, information is required on very large numbers of people to provide sufficient power3, 4. Here we use runs of homozygosity to study 16 health-related quantitative traits in 354,224 individuals from 102 cohorts, and find statistically significant associations between summed runs of homozygosity and four complex traits: height, forced expiratory lung volume in one second, general cognitive ability and educational attainment (P < 1 × 10−300, 2.1 × 10−6, 2.5 × 10−10 and 1.8 × 10−10, respectively). In each case, increased homozygosity was associated with decreased trait value, equivalent to the offspring of first cousins being 1.2 cm shorter and having 10 months’ less education. Similar effect sizes were found across four continental groups and populations with different degrees of genome-wide homozygosity, providing evidence that homozygosity, rather than confounding, directly contributes to phenotypic variance. Contrary to earlier reports in substantially smaller samples5, 6, no evidence was seen of an influence of genome-wide homozygosity on blood pressure and low density lipoprotein cholesterol, or ten other cardio-metabolic traits. Since directional dominance is predicted for traits under directional evolutionary selection7, this study provides evidence that increased stature and cognitive function have been positively selected in human evolution, whereas many important risk factors for late-onset complex diseases may not have been.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Non HERDC
Queensland Brain Institute Publications
 
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