DSpace Repository
A genome-wide association study identifies multiple loci for variation in human ear morphology
- DSpace Home
- →
- Artículos
- →
- Editados por otras instituciones
- →
- Artículos en revistas indizadas
- →
- View Item
JavaScript is disabled for your browser. Some features of this site may not work without it.
A genome-wide association study identifies multiple loci for variation in human ear morphology
Adhikari, Kaustubh; Reales, Guillermo; Smith, Andrew J. P.; Konka, Esra; Palmen, Jutta; Quinto-Sanchez, Mirsha; Acuna-Alonzo, Victor; Jaramillo, Claudia; Arias, William; Fuentes, Macarena; Pizarro, Maria; Barquera Lozano, Rodrigo; Macin Perez, Gaston; Gomez-Valdes, Jorge; Villamil-Ramirez, Hugo; Hunemeier, Tabita; Ramallo, Virginia; Silva de Cerqueira, Caio C.; Hurtado, Malena; Villegas, Valeria; Granja, Vanessa; Gallo López-Aliaga, Carla Maria; Poletti, Giovanni; Schuler-Faccini, Lavinia; Salzano, Francisco M.; Bortolini, Maria-Catira; Canizales-Quinteros, Samuel; Rothhammer, Francisco; Bedoya, Gabriel; Calderon, Rosario; Rosique, Javier; Cheeseman, Michael; Bhutta, Mahmood F.; Humphries, Steve E.; Gonzalez-Jose, Rolando; Headon, Denis; Balding, David; Ruiz-Linares, Andres
Date:
2015
Abstract:
Here we report a genome-wide association study for non-pathological pinna morphology in over 5,000 Latin Americans. We find genome-wide significant association at seven genomic regions affecting: lobe size and attachment, folding of antihelix, helix rolling, ear protrusion and antitragus size (linear regression P values 2 x 10(-8) to 3 x 10(-14)). Four traits are associated with a functional variant in the Ectodysplasin A receptor (EDAR) gene, a key regulator of embryonic skin appendage development. We confirm expression of Edar in the developing mouse ear and that Edar-deficient mice have an abnormally shaped pinna. Two traits are associated with SNPs in a region overlapping the T-Box Protein 15 (TBX15) gene, a major determinant of mouse skeletal development. Strongest association in this region is observed for SNP rs17023457 located in an evolutionarily conserved binding site for the transcription factor Cartilage paired-class homeoprotein 1 (CART1), and we confirm that rs17023457 alters in vitro binding of CART1.
Files in this item
| Files | Size | Format | View |
|---|---|---|---|
|
There are no files associated with this item. |
|||
This item appears in the following Collection(s)
-
Artículos en revistas indizadas [4988]
Recuperados de bases de datos bibliográficas
Except where otherwise noted, this item's license is described as info:eu-repo/semantics/restrictedAccess
Related items
Showing items related by title, author, creator and subject.
-
Zamudio, Roxana; Pereira, Latife; Rocha, Carolina D.; Berg, Douglas E.; Muniz-Queiroz, Thais; Sant Anna, Hanaisa P.; Cabrera, Lilia; Combe, Juan M.; Herrera, Phabiola; Jahuira, Martha H.; Leao, Felipe B.; Lyon, Fernanda; Prado, William A.; Rodrigues, Maira R.; Rodrigues-Soares, Fernanda; Santolalla Robles, Meddly Leslye; Zolini, Camila; Silva, Aristobolo M.; Gilman, Robert Hugh; Tarazona-Santos, Eduardo; Kehdy, Fernanda S. G. (Springer, 2015)Background. Gastric adenocarcinoma is associated with chronic infection by Helicobacter pylori and with the host inflammatory response triggered by it, with substantial inter-person variation in the immune response profile ...
-
Shaffer, John R.; Li, Jinxi; Lee, Myoung Keun; Roosenboom, Jasmien; Orlova, Ekaterina; Adhikari, Kaustabh; 23andMe Research Team; Gallo López-Aliaga, Carla Maria; Poletti, Giovanni; Schuler-Faccini, Lavinia; Bortolini, Maria-Cátira; Canizales-Quinteros, Samuel; Rothhammer, Francisco; Bedoya, Gabriel; González-José, Rolando; Pfeffer, Paige E.; Wollenschlaeger, Christopher A.; Hecht, Jacqueline T.; Wehby, George L.; Moreno, Lina M.; Ding, Anan; Jin, Li; Yang, Yajun; Carlson, Jenna C.; Leslie, Elizabeth J.; Feingold, Eleanor; Marazita, Mary L.; Hinds, David A.; Cox, Timothy C.; Wang, Sijia; Ruiz-Linares, Andrés; Weinberg, Seth M. (Elsevier, 2017)The genetic basis of earlobe attachment has been a matter of debate since the early 20th century, such that geneticists argue both for and against polygenic inheritance. Recent genetic studies have identified a few loci ...
-
1000 Genomes Project; Auton, A.; Abecasis, G.R.; Altshuler, D.M.; Durbin, R.M.; Bentley, D.R.; Chakravarti, A.; Clark, A.G.; Donnelly, P.; Eichler, E.E.; Flicek, P.; Gabriel, S.B.; Gibbs, R.A.; Green, E.D.; Hurles, M.E.; Knoppers, B.M.; Korbel, J.O.; Lander, E.S.; Lee, C.; Lehrach, H.; Mardis, E.R.; Marth, G.T.; McVean, G.A.; Nickerson, D.A.; Schmidt, J.P.; Sherry, S.T.; Wang, J.; Wilson, R.K.; Boerwinkle, E.; Doddapaneni, H.; Han, Y.; Korchina, V.; Kovar, C.; Lee, S.; Muzny, D.; Reid, J.G.; Zhu, Y.; Chang, Y.; Feng, Q.; Fang, X.; Guo, X.; Jian, M.; Jiang, H.; Jin, X.; Lan, T.; Li, G.; Li, J.; Li, Y.; Liu, S.; Liu, X.; Lu, Y.; Ma, X.; Tang, M.; Wang, B.; Wang, G.; Wu, H.; Wu, R.; Xu, X.; Yin, Y.; Zhang, D.; Zhang, W.; Zhao, J.; Zhao, M.; Zheng, X.; Gupta, N.; Gharani, N.; Toji, L.H.; Gerry, N.P.; Resch, A.M.; Barker, J.; Clarke, L.; Gil, L.; Hunt, S.E.; Kelman, G.; Kulesha, E.; Leinonen, R.; McLaren, W.M.; Radhakrishnan, R.; Roa, A.; Smirnov, D.; Smith, R.E.; Streeter, I.; Thormann, A.; Toneva, I.; Vaughan, B.; Zheng-Bradley, X.; Grocock, R.; Humphray, S.; James, T.; Kingsbury, Z.; Sudbrak, R.; Albrecht, M.W.; Amstislavskiy, V.S.; Borodina, T.A.; Lienhard, M.; Mertes, F.; Sultan, M.; Timmermann, B.; Yaspo, M.-L.; Fulton, L.; Ananiev, V.; Belaia, Z.; Beloslyudtsev, D.; Bouk, N.; Chen, C.; Church, D.; Cohen, R.; Cook, C.; Garner, J.; Hefferon, T.; Kimelman, M.; Liu, C.; Lopez, J.; Meric, P.; O'Sullivan, C.; Ostapchuk, Y.; Phan, L.; Ponomarov, S.; Schneider, V.; Shekhtman, E.; Sirotkin, K.; Slotta, D.; Zhang, H.; Balasubramaniam, S.; Burton, J.; Danecek, P.; Keane, T.M.; Kolb-Kokocinski, A.; McCarthy, S.; Stalker, J.; Quail, M.; Davies, C.J.; Gollub, J.; Webster, T.; Wong, B.; Zhan, Y.; Campbell, C.L.; Kong, Y.; Marcketta, A.; Yu, F.; Antunes, L.; Bainbridge, M.; Sabo, A.; Huang, Z.; Coin, L.J.M.; Fang, L.; Li, Q.; Li, Z.; Lin, H.; Liu, B.; Luo, R.; Shao, H.; Xie, Y.; Ye, C.; Yu, C.; Zhang, F.; Zheng, H.; Zhu, H.; Alkan, C.; Dal, E.; Kahveci, F.; Garrison, E.P.; Kural, D.; Lee, W.-P.; Leong, W.F.; Stromberg, M.; Ward, A.N.; Wu, J.; Zhang, M.; Daly, M.J.; DePristo, M.A.; Handsaker, R.E.; Banks, E.; Bhatia, G.; Del Angel, G.; Genovese, G.; Li, H.; Kashin, S.; McCarroll, S.A.; Nemesh, J.C.; Poplin, R.E.; Yoon, S.C.; Lihm, J.; Makarov, V.; Gottipati, S.; Keinan, A.; Rodriguez-Flores, J.L.; Rausch, T.; Fritz, M.H.; Stütz, A.M.; Beal, K.; Datta, A.; Herrero, J.; Ritchie, G.R.S.; Zerbino, D.; Sabeti, P.C.; Shlyakhter, I.; Schaffner, S.F.; Vitti, J.; Cooper, D.N.; Ball, E.V.; Stenson, P.D.; Barnes, B.; Bauer, M.; Cheetham, R.K.; Cox, A.; Eberle, M.; Kahn, S.; Murray, L.; Peden, J.; Shaw, R.; Kenny, E.E.; Batzer, M.A.; Konkel, M.K.; Walker, J.A.; MacArthur, D.G.; Lek, M.; Herwig, R.; Ding, L.; Koboldt, D.C.; Larson, D.; Ye, K.; Gravel, S.; Swaroop, A.; Chew, E.; Lappalainen, T.; Erlich, Y.; Gymrek, M.; Willems, T.F.; Simpson, J.T.; Shriver, M.D.; Rosenfeld, J.A.; Bustamante, C.D.; Montgomery, S.B.; De La Vega, F.M.; Byrnes, J.K.; Carroll, A.W.; DeGorter, M.K.; Lacroute, P.; Maples, B.K.; Martin, A.R.; Moreno-Estrada, A.; Shringarpure, S.S.; Zakharia, F.; Halperin, E.; Baran, Y.; Cerveira, E.; Hwang, J.; Malhotra, A.; Plewczynski, D.; Radew, K.; Romanovitch, M.; Zhang, C.; Hyland, F.C.L.; Craig, D.W.; Christoforides, A.; Homer, N.; Izatt, T.; Kurdoglu, A.A.; Sinari, S.A.; Squire, K.; Xiao, C.; Sebat, J.; Antaki, D.; Gujral, M.; Noor, A.; Ye, K.; Burchard, E.G.; Hernandez, R.D.; Gignoux, C.R.; Haussler, D.; Katzman, S.J.; Kent, W.J.; Howie, B.; Ruiz-Linares, A.; Dermitzakis, E.T.; Devine, S.E.; Kang, H.M.; Kidd, J.M.; Blackwell, T.; Caron, S.; Chen, W.; Emery, S.; Fritsche, L.; Fuchsberger, C.; Jun, G.; Li, B.; Lyons, R.; Scheller, C.; Sidore, C.; Song, S.; Sliwerska, E.; Taliun, D.; Tan, A.; Welch, R.; Wing, M.K.; Zhan, X.; Awadalla, P.; Hodgkinson, A.; Li, Y.; Shi, X.; Quitadamo, A.; Lunter, G.; Marchini, J.L.; Myers, S.; Churchhouse, C.; Delaneau, O.; Gupta-Hinch, A.; Kretzschmar, W.; Iqbal, Z.; Mathieson, I.; Menelaou, A.; Rimmer, A.; Xifara, D.K.; Oleksyk, T.K.; Fu, Y.; Liu, X.; Xiong, M.; Jorde, L.; Witherspoon, D.; Xing, J.; Browning, B.L.; Browning, S.R.; Hormozdiari, F.; Sudmant, P.H.; Khurana, E.; Tyler-Smith, C.; Albers, C.A.; Ayub, Q.; Chen, Y.; Colonna, V.; Jostins, L.; Walter, K.; Xue, Y.; Gerstein, M.B.; Abyzov, A.; Balasubramanian, S.; Chen, J.; Clarke, D.; Fu, Y.; Harmanci, A.O.; Jin, M.; Lee, D.; Liu, J.; Mu, X.J.; Zhang, J.; Zhang, Y.; Hartl, C.; Shakir, K.; Degenhardt, J.; Meiers, S.; Raeder, B.; Casale, F.P.; Stegle, O.; Lameijer, E.-W.; Hall, I.; Bafna, V.; Michaelson, J.; Gardner, E.J.; Mills, R.E.; Dayama, G.; Chen, K.; Fan, X.; Chong, Z.; Chen, T.; Chaisson, M.J.; Huddleston, J.; Malig, M.; Nelson, B.J.; Parrish, N.F.; Blackburne, B.; Lindsay, S.J.; Ning, Z.; Zhang, Y.; Lam, H.; Sisu, C.; Challis, D.; Evani, U.S.; Lu, J.; Nagaswamy, U.; Yu, J.; Li, W.; Habegger, L.; Yu, H.; Cunningham, F.; Dunham, I.; Lage, K.; Jespersen, J.B.; Horn, H.; Kim, D.; Desalle, R.; Narechania, A.; Sayres, M.A.W.; Mendez, F.L.; Poznik, G.D.; Underhill, P.A.; Mittelman, D.; Banerjee, R.; Cerezo, M.; Fitzgerald, T.W.; Louzada, S.; Massaia, A.; Yang, F.; Kalra, D.; Hale, W.; Dan, X.; Barnes, K.C.; Beiswanger, C.; Cai, H.; Cao, H.; Henn, B.; Jones, D.; Kaye, J.S.; Kent, A.; Kerasidou, A.; Mathias, R.; Ossorio, P.N.; Parker, M.; Rotimi, C.N.; Royal, C.D.; Sandoval, K.; Su, Y.; Tian, Z.; Tishkoff, S.; Via, M.; Wang, Y.; Yang, H.; Yang, L.; Zhu, J.; Bodmer, W.; Bedoya, G.; Cai, Z.; Gao, Y.; Chu, J.; Peltonen, L.; Garcia-Montero, A.; Orfao, A.; Dutil, J.; Martinez-Cruzado, J.C.; Mathias, R.A.; Hennis, A.; Watson, H.; McKenzie, C.; Qadri, F.; LaRocque, R.; Deng, X.; Asogun, D.; Folarin, O.; Happi, C.; Omoniwa, O.; Stremlau, M.; Tariyal, R.; Jallow, M.; Joof, F.S.; Corrah, T.; Rockett, K.; Kwiatkowski, D.; Kooner, J.; Hien, T.T.; Dunstan, S.J.; ThuyHang, N.; Fonnie, R.; Garry, R.; Kanneh, L.; Moses, L.; Schieffelin, J.; Grant, D.S.; Gallo López-Aliaga, Carla Maria; Poletti, Giovanni; Saleheen, D.; Rasheed, A.; Brooks, L.D.; Felsenfeld, A.L.; McEwen, J.E.; Vaydylevich, Y.; Duncanson, A.; Dunn, M.; Schloss, J.A. (Springer Nature, 2015)The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report ...
Search DSpace
Browse
-
All of DSpace
-
This Collection
