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Directional dominance on stature and cognition in diverse human populations.

Homozygosity has long been associated with rare, often devastating, Mendelian disorders (1), and Darwin was one of the first to recognize that inbreeding reduces evolutionary fitness (2). However, the effect of the more distant parental relatedness that is common in modern human populations is less... Full description

Journal Title: Nature July 23, 2015, Vol.523(7561), pp.459-462
Main Author: Joshi, Peter K
Other Authors: Esko, Tonu , Mattsson, Hannele , Eklund, Niina , Gandin, Ilaria , Nutile, Teresa , Jackson, Anne U , Schurmann, Claudia , Smith, Albert V , Zhang, Weihua , Okada, Yukinori , Stančáková, 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, Jeffery 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, Penelope A , Malerba, Giovanni , Drong, Alexander , Yengo, Loic , Bielak, Lawrence F , Zhi, Degui , van Der Most, Peter J , Shriner, Daniel , Mägi, 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, Leanne M , 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 , Dörr, 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 , Heikkilä, 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, Åsa , Jousilahti, Pekka , Jukema, J Wouter , Kähönen, 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 , Lehtimäki, 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 , Männistö, 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, Grant W , 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 , Töglhofer, Anna Maria , Tomaszewski, Maciej , Tšernikova, Natalia , Tuomilehto, Jaakko , Uitterlinden, Andre G , Vaidya, Dhananjay , van Hylckama Vlieg, Astrid , 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
Format: Electronic Article Electronic Article
Language: English
Subjects:
ID: E-ISSN: 1476-4687 ; DOI: 10.1038/nature14618
Link: http://search.proquest.com/docview/1698961376/?pq-origsite=primo
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title: Directional dominance on stature and cognition in diverse human populations.
format: Article
creator:
  • 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
  • Stančáková, 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, Jeffery 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, Penelope A
  • Malerba, Giovanni
  • Drong, Alexander
  • Yengo, Loic
  • Bielak, Lawrence F
  • Zhi, Degui
  • van Der Most, Peter J
  • Shriner, Daniel
  • Mägi, 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, Leanne M
  • 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
  • Dörr, 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
  • Heikkilä, 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, Åsa
  • Jousilahti, Pekka
  • Jukema, J Wouter
  • Kähönen, 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
  • Lehtimäki, 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
  • Männistö, 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, Grant W
  • 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
  • Töglhofer, Anna Maria
  • Tomaszewski, Maciej
  • Tšernikova, Natalia
  • Tuomilehto, Jaakko
  • Uitterlinden, Andre G
  • Vaidya, Dhananjay
  • van Hylckama Vlieg, Astrid
  • 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
subjects:
  • Biological Evolution–Genetics
  • Blood Pressure–Genetics
  • Body Height–Genetics
  • Cholesterol, LDL–Genetics
  • Cognition–Genetics
  • Cohort Studies–Genetics
  • Educational Status–Genetics
  • Female–Genetics
  • Forced Expiratory Volume–Genetics
  • Genome, Human–Genetics
  • Homozygote–Genetics
  • Humans–Genetics
  • Lung Volume Measurements–Genetics
  • Male–Genetics
  • Phenotype–Genetics
  • Cholesterol, LDL
ispartof: Nature, July 23, 2015, Vol.523(7561), pp.459-462
description: Homozygosity has long been associated with rare, often devastating, Mendelian disorders (1), and Darwin was one of the first to recognize that inbreeding reduces evolutionary fitness (2). 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 power (3,4). 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 x [10.sup.-300], 2.1 x [10.sup.-6], 2.5 x [10.sup.-10] and 1.8 x [10.sup.-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 samples (5,6), 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 selection (7), 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.
language: eng
source:
identifier: E-ISSN: 1476-4687 ; DOI: 10.1038/nature14618
fulltext: fulltext
issn:
  • 14764687
  • 1476-4687
url: Link


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titleDirectional dominance on stature and cognition in diverse human populations.
creatorJoshi, Peter K ; Esko, Tonu ; Mattsson, Hannele ; Eklund, Niina ; Gandin, Ilaria ; Nutile, Teresa ; Jackson, Anne U ; Schurmann, Claudia ; Smith, Albert V ; Zhang, Weihua ; Okada, Yukinori ; Stančáková, 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, Jeffery 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, Penelope A ; Malerba, Giovanni ; Drong, Alexander ; Yengo, Loic ; Bielak, Lawrence F ; Zhi, Degui ; van Der Most, Peter J ; Shriner, Daniel ; Mägi, 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, Leanne M ; 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 ; Dörr, 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 ; Heikkilä, 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, Åsa ; Jousilahti, Pekka ; Jukema, J Wouter ; Kähönen, 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 ; Lehtimäki, 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 ; Männistö, 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, Grant W ; 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 ; Töglhofer, Anna Maria ; Tomaszewski, Maciej ; Tšernikova, Natalia ; Tuomilehto, Jaakko ; Uitterlinden, Andre G ; Vaidya, Dhananjay ; van Hylckama Vlieg, Astrid ; 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
ispartofNature, July 23, 2015, Vol.523(7561), pp.459-462
identifierE-ISSN: 1476-4687 ; DOI: 10.1038/nature14618
subjectBiological Evolution–Genetics ; Blood Pressure–Genetics ; Body Height–Genetics ; Cholesterol, LDL–Genetics ; Cognition–Genetics ; Cohort Studies–Genetics ; Educational Status–Genetics ; Female–Genetics ; Forced Expiratory Volume–Genetics ; Genome, Human–Genetics ; Homozygote–Genetics ; Humans–Genetics ; Lung Volume Measurements–Genetics ; Male–Genetics ; Phenotype–Genetics ; Cholesterol, LDL
languageeng
source
descriptionHomozygosity has long been associated with rare, often devastating, Mendelian disorders (1), and Darwin was one of the first to recognize that inbreeding reduces evolutionary fitness (2). 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 power (3,4). 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 x [10.sup.-300], 2.1 x [10.sup.-6], 2.5 x [10.sup.-10] and 1.8 x [10.sup.-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 samples (5,6), 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 selection (7), 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.
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creatorcontrib
0Joshi, Peter K
1Esko, Tonu
2Mattsson, Hannele
3Eklund, Niina
4Gandin, Ilaria
5Nutile, Teresa
6Jackson, Anne U
7Schurmann, Claudia
8Smith, Albert V
9Zhang, Weihua
10Okada, Yukinori
11Stančáková, Alena
12Faul, Jessica D
13Zhao, Wei
14Bartz, Traci M
15Concas, Maria Pina
16Franceschini, Nora
17Enroth, Stefan
18Vitart, Veronique
19Trompet, Stella
20Guo, Xiuqing
21Chasman, Daniel I
22O'Connel, Jeffery R
23Corre, Tanguy
24Nongmaithem, Suraj S
25Chen, Yuning
26Mangino, Massimo
27Ruggiero, Daniela
28Traglia, Michela
29Farmaki, Aliki-Eleni
30Kacprowski, Tim
31Bjonnes, Andrew
32van Der Spek, Ashley
33Wu, Ying
34Giri, Anil K
35Yanek, Lisa R
36Wang, Lihua
37Hofer, Edith
38Rietveld, Cornelius A
39Mcleod, Olga
40Cornelis, Marilyn C
41Pattaro, Cristian
42Verweij, Niek
43Baumbach, Clemens
44Abdellaoui, Abdel
45Warren, Helen R
46Vuckovic, Dragana
47Mei, Hao
48Bouchard, Claude
49Perry, John R B
50Cappellani, Stefania
51Mirza, Saira S
52Benton, Miles C
53Broeckel, Ulrich
54Medland, Sarah E
55Lind, Penelope A
56Malerba, Giovanni
57Drong, Alexander
58Yengo, Loic
59Bielak, Lawrence F
60Zhi, Degui
61van Der Most, Peter J
62Shriner, Daniel
63Mägi, Reedik
64Hemani, Gibran
65Karaderi, Tugce
66Wang, Zhaoming
67Liu, Tian
68Demuth, Ilja
69Zhao, Jing Hua
70Meng, Weihua
71Lataniotis, Lazaros
72van Der Laan, Sander W
73Bradfield, Jonathan P
74Wood, Andrew R
75Bonnefond, Amelie
76Ahluwalia, Tarunveer S
77Hall, Leanne M
78Salvi, Erika
79Yazar, Seyhan
80Carstensen, Lisbeth
81de Haan, Hugoline G
82Abney, Mark
83Afzal, Uzma
84Allison, Matthew A
85Amin, Najaf
86Asselbergs, Folkert W
87Bakker, Stephan J L
88Barr, R Graham
89Baumeister, Sebastian E
90Benjamin, Daniel J
91Bergmann, Sven
92Boerwinkle, Eric
93Bottinger, Erwin P
94Campbell, Archie
95Chakravarti, Aravinda
96Chan, Yingleong
97Chanock, Stephen J
98Chen, Constance
99Chen, Y-D Ida
100...
titleDirectional dominance on stature and cognition in diverse human populations.
subject
0Biological Evolution–Genetics
1Blood Pressure–Genetics
2Body Height–Genetics
3Cholesterol, LDL–Genetics
4Cognition–Genetics
5Cohort Studies–Genetics
6Educational Status–Genetics
7Female–Genetics
8Forced Expiratory Volume–Genetics
9Genome, Human–Genetics
10Homozygote–Genetics
11Humans–Genetics...
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110.1038/nature14618
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3ProQuest Biological Science Collection
4ProQuest Natural Science Collection
5ProQuest SciTech Collection
6Biological Science Database
7Natural Science Collection
8SciTech Premium Collection
9Health Research Premium Collection
10Health Research Premium Collection (Alumni edition)
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citationpf 459 pt 462 vol 523 issue 7561
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titleDirectional dominance on stature and cognition in diverse human populations.
authorJoshi, Peter K ; Esko, Tonu ; Mattsson, Hannele ; Eklund, Niina ; Gandin, Ilaria ; Nutile, Teresa ; Jackson, Anne U ; Schurmann, Claudia ; Smith, Albert V ; Zhang, Weihua ; Okada, Yukinori ; Stančáková, Alena ; Faul, Jessica D ; Zhao, Wei ; Bartz, Traci M ; Concas, Maria Pina ; Franceschini, Nora ; Enroth,...
creationdate20150723
lso0120150723
facets
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frbrtype5
newrecords20181218
languageeng
creationdate2015
topic
0Biological Evolution–Genetics
1Blood Pressure–Genetics
2Body Height–Genetics
3Cholesterol, LDL–Genetics
4Cognition–Genetics
5Cohort Studies–Genetics
6Educational Status–Genetics
7Female–Genetics
8Forced Expiratory Volume–Genetics
9Genome, Human–Genetics
10Homozygote–Genetics
11Humans–Genetics...
collection
0MEDLINE (ProQuest)
1ProQuest Biological Science Collection
2ProQuest Natural Science Collection
3ProQuest SciTech Collection
4Biological Science Database
5Natural Science Collection
6SciTech Premium Collection
7Health Research Premium Collection
8Health Research Premium Collection (Alumni edition)
9Biological Science Index (ProQuest)
prefilterarticles
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creatorcontrib
0Joshi, Peter K
1Esko, Tonu
2Mattsson, Hannele
3Eklund, Niina
4Gandin, Ilaria
5Nutile, Teresa
6Jackson, Anne U
7Schurmann, Claudia
8Smith, Albert V
9Zhang, Weihua
10Okada, Yukinori
11Stančáková, Alena
12Faul, Jessica D
13Zhao, Wei
14Bartz, Traci M
15Concas, Maria Pina
16Franceschini, Nora
17Enroth, Stefan
18Vitart, Veronique
19Trompet, Stella
20Guo, Xiuqing
21Chasman, Daniel I
22O'Connel, Jeffery R
23Corre, Tanguy
24Nongmaithem, Suraj S
25Chen, Yuning
26Mangino, Massimo
27Ruggiero, Daniela
28Traglia, Michela
29Farmaki, Aliki-Eleni
30Kacprowski, Tim
31Bjonnes, Andrew
32van Der Spek, Ashley
33Wu, Ying
34Giri, Anil K
35Yanek, Lisa R
36Wang, Lihua
37Hofer, Edith
38Rietveld, Cornelius A
39Mcleod, Olga
40Cornelis, Marilyn C
41Pattaro, Cristian
42Verweij, Niek
43Baumbach, Clemens
44Abdellaoui, Abdel
45Warren, Helen R
46Vuckovic, Dragana
47Mei, Hao
48Bouchard, Claude
49Perry, John R B
50Cappellani, Stefania
51Mirza, Saira S
52Benton, Miles C
53Broeckel, Ulrich
54Medland, Sarah E
55Lind, Penelope A
56Malerba, Giovanni
57Drong, Alexander
58Yengo, Loic
59Bielak, Lawrence F
60Zhi, Degui
61van Der Most, Peter J
62Shriner, Daniel
63Mägi, Reedik
64Hemani, Gibran
65Karaderi, Tugce
66Wang, Zhaoming
67Liu, Tian
68Demuth, Ilja
69Zhao, Jing Hua
70Meng, Weihua
71Lataniotis, Lazaros
72van Der Laan, Sander W
73Bradfield, Jonathan P
74Wood, Andrew R
75Bonnefond, Amelie
76Ahluwalia, Tarunveer S
77Hall, Leanne M
78Salvi, Erika
79Yazar, Seyhan
80Carstensen, Lisbeth
81de Haan, Hugoline G
82Abney, Mark
83Afzal, Uzma
84Allison, Matthew A
85Amin, Najaf
86Asselbergs, Folkert W
87Bakker, Stephan J L
88Barr, R Graham
89Baumeister, Sebastian E
90Benjamin, Daniel J
91Bergmann, Sven
92Boerwinkle, Eric
93Bottinger, Erwin P
94Campbell, Archie
95Chakravarti, Aravinda
96Chan, Yingleong
97Chanock, Stephen J
98Chen, Constance
99Chen, Y-D Ida
100...
jtitleNature
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0Joshi
1Esko
2Mattsson
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13Zhao
14Bartz
15Concas
16Franceschini
17Enroth
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20Guo
21Chasman
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23Corre
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43Baumbach
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46Vuckovic
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49Perry
50Cappellani
51Mirza
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53Broeckel
54Medland
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56Malerba
57Drong
58Yengo
59Bielak
60Zhi
61van der Most
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63Mägi
64Hemani
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100...
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12Jessica D
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14Traci M
15Maria Pina
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17Stefan
18Veronique
19Stella
20Xiuqing
21Daniel I
22Jeffery R
23Tanguy
24Suraj S
25Yuning
26Massimo
27Daniela
28Michela
29Aliki-Eleni
30Tim
31Andrew
32Ashley
33Ying
34Anil K
35Lisa R
36Lihua
37Edith
38Cornelius A
39Olga
40Marilyn C
41Cristian
42Niek
43Clemens
44Abdel
45Helen R
46Dragana
47Hao
48Claude
49John R B
50Stefania
51Saira S
52Miles C
53Ulrich
54Sarah E
55Penelope A
56Giovanni
57Alexander
58Loic
59Lawrence F
60Degui
61Peter J
62Daniel
63Reedik
64Gibran
65Tugce
66Zhaoming
67Tian
68Ilja
69Jing Hua
70Lazaros
71Sander W
72Jonathan P
73Andrew R
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75Tarunveer S
76Leanne M
77Erika
78Seyhan
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80Hugoline G
81Mark
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83Matthew A
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85Folkert W
86Stephan J L
87R Graham
88Sebastian E
89Daniel J
90Sven
91Eric
92Erwin P
93Archie
94Aravinda
95Yingleong
96Stephen J
97Constance
98Y-D Ida
99Francis S
100...
au
0Joshi, Peter K
1Esko, Tonu
2Mattsson, Hannele
3Eklund, Niina
4Gandin, Ilaria
5Nutile, Teresa
6Jackson, Anne U
7Schurmann, Claudia
8Smith, Albert V
9Zhang, Weihua
10Okada, Yukinori
11Stančáková, Alena
12Faul, Jessica D
13Zhao, Wei
14Bartz, Traci M
15Concas, Maria Pina
16Franceschini, Nora
17Enroth, Stefan
18Vitart, Veronique
19Trompet, Stella
20Guo, Xiuqing
21Chasman, Daniel I
22O'Connel, Jeffery R
23Corre, Tanguy
24Nongmaithem, Suraj S
25Chen, Yuning
26Mangino, Massimo
27Ruggiero, Daniela
28Traglia, Michela
29Farmaki, Aliki-Eleni
30Kacprowski, Tim
31Bjonnes, Andrew
32van Der Spek, Ashley
33Wu, Ying
34Giri, Anil K
35Yanek, Lisa R
36Wang, Lihua
37Hofer, Edith
38Rietveld, Cornelius A
39Mcleod, Olga
40Cornelis, Marilyn C
41Pattaro, Cristian
42Verweij, Niek
43Baumbach, Clemens
44Abdellaoui, Abdel
45Warren, Helen R
46Vuckovic, Dragana
47Mei, Hao
48Bouchard, Claude
49Perry, John R B
50Cappellani, Stefania
51Mirza, Saira S
52Benton, Miles C
53Broeckel, Ulrich
54Medland, Sarah E
55Lind, Penelope A
56Malerba, Giovanni
57Drong, Alexander
58Yengo, Loic
59Bielak, Lawrence F
60Zhi, Degui
61van Der Most, Peter J
62Shriner, Daniel
63Mägi, Reedik
64Hemani, Gibran
65Karaderi, Tugce
66Wang, Zhaoming
67Liu, Tian
68Demuth, Ilja
69Zhao, Jing Hua
70Meng, Weihua
71Lataniotis, Lazaros
72van Der Laan, Sander W
73Bradfield, Jonathan P
74Wood, Andrew R
75Bonnefond, Amelie
76Ahluwalia, Tarunveer S
77Hall, Leanne M
78Salvi, Erika
79Yazar, Seyhan
80Carstensen, Lisbeth
81de Haan, Hugoline G
82Abney, Mark
83Afzal, Uzma
84Allison, Matthew A
85Amin, Najaf
86Asselbergs, Folkert W
87Bakker, Stephan J L
88Barr, R Graham
89Baumeister, Sebastian E
90Benjamin, Daniel J
91Bergmann, Sven
92Boerwinkle, Eric
93Bottinger, Erwin P
94Campbell, Archie
95Chakravarti, Aravinda
96Chan, Yingleong
97Chanock, Stephen J
98Chen, Constance
99Chen, Y-D Ida
100...
atitleDirectional dominance on stature and cognition in diverse human populations.
jtitleNature
risdate20150723
volume523
issue7561
spage459
epage462
pages459-462
eissn1476-4687
formatjournal
genrearticle
ristypeJOUR
doi10.1038/nature14618
urlhttp://search.proquest.com/docview/1698961376/
issn00280836
date2015-07-23