206 results on '"Gonzalez-José, Rolando"'
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2. Automatic landmarking identifies new loci associated with face morphology and implicates Neanderthal introgression in human nasal shape
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Li, Qing, Chen, Jieyi, Faux, Pierre, Delgado, Miguel Eduardo, Bonfante, Betty, Fuentes-Guajardo, Macarena, Mendoza-Revilla, Javier, Chacón-Duque, J. Camilo, Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Jaramillo, Claudia, Arias, William, Barquera, Rodrigo, Everardo-Martínez, Paola, Sánchez-Quinto, Mirsha, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, Silva de Cerqueira, Caio C., Hünemeier, Tábita, Ramallo, Virginia, Wu, Sijie, Du, Siyuan, Giardina, Andrea, Paria, Soumya Subhra, Khokan, Mahfuzur Rahman, Gonzalez-José, Rolando, Schüler-Faccini, Lavinia, Bortolini, Maria-Cátira, Acuña-Alonzo, Victor, Canizales-Quinteros, Samuel, Gallo, Carla, Poletti, Giovanni, Rojas, Winston, Rothhammer, Francisco, Navarro, Nicolas, Wang, Sijia, Adhikari, Kaustubh, and Ruiz-Linares, Andrés
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- 2023
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3. Supervised Machine Learning Classification of Human Sperm Head Based on Morphological Features
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Revollo, Natalia V., Sarmiento, G. Noelia Revollo, Delrieux, Claudio, Herrera, Marcela, González-José, Rolando, Chlamtac, Imrich, Series Editor, Johri, Prashant, editor, Diván, Mario José, editor, Khanam, Ruqaiya, editor, Marciszack, Marcelo, editor, and Will, Adrián, editor
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- 2022
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4. Clotting factor genes are associated with preeclampsia in high-altitude pregnant women in the Peruvian Andes
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Nieves-Colón, Maria A., Badillo Rivera, Keyla M., Sandoval, Karla, Villanueva Dávalos, Vanessa, Enriquez Lencinas, Luis E., Mendoza-Revilla, Javier, Adhikari, Kaustubh, González-Buenfil, Ram, Chen, Jessica W., Zhang, Elisa T., Sockell, Alexandra, Ortiz-Tello, Patricia, Hurtado, Gloria Malena, Condori Salas, Ramiro, Cebrecos, Ricardo, Manzaneda Choque, José C., Manzaneda Choque, Franz P., Yábar Pilco, Germán P., Rawls, Erin, Eng, Celeste, Huntsman, Scott, Burchard, Esteban, Ruiz-Linares, Andrés, González-José, Rolando, Bedoya, Gabriel, Rothhammer, Francisco, Bortolini, Maria Cátira, Poletti, Giovanni, Gallo, Carla, Bustamante, Carlos D., Baker, Julie C., Gignoux, Christopher R., Wojcik, Genevieve L., and Moreno-Estrada, Andrés
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- 2022
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5. Functional efficiency and life history of Late Holocene lithic points from southern Patagonia: An experimental estimation using survival curves models
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Cardillo, Marcelo, Charlin, Judith, Arriaga, Lucas Cheme, Corada, Juan Pablo Donadei, Moreno, Eduardo, González-José, Rolando, and Shott, Michael
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- 2021
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6. Prediction of eye, hair and skin colour in Latin Americans
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Palmal, Sagnik, Adhikari, Kaustubh, Mendoza-Revilla, Javier, Fuentes-Guajardo, Macarena, Silva de Cerqueira, Caio Cesar, Bonfante, Betty, Chacón-Duque, Juan Camilo, Sohail, Anood, Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Jaramillo, Claudia, Arias, William, Lozano, Rodrigo Barquera, Everardo-Martínez, Paola, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, Hünemeier, Tábita, Ramallo, Virginia, Parolin, Maria-Laura, Gonzalez-José, Rolando, Schüler-Faccini, Lavinia, Bortolini, Maria-Cátira, Acuña-Alonzo, Victor, Canizales-Quinteros, Samuel, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Rothhammer, Francisco, Balding, David, Faux, Pierre, and Ruiz-Linares, Andrés
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- 2021
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7. The immunogenetic diversity of the HLA system in Mexico correlates with underlying population genetic structure
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Barquera, Rodrigo, Hernández-Zaragoza, Diana Iraíz, Bravo-Acevedo, Alicia, Arrieta-Bolaños, Esteban, Clayton, Stephen, Acuña-Alonzo, Víctor, Martínez-Álvarez, Julio César, López-Gil, Concepción, Adalid-Sáinz, Carmen, Vega-Martínez, María del Rosario, Escobedo-Ruíz, Araceli, Juárez-Cortés, Eva Dolores, Immel, Alexander, Pacheco-Ubaldo, Hanna, González-Medina, Liliana, Lona-Sánchez, Abraham, Lara-Riegos, Julio, Sánchez-Fernández, María Guadalupe de Jesús, Díaz-López, Rosario, Guizar-López, Gregorio Ulises, Medina-Escobedo, Carolina Elizabeth, Arrazola-García, María Araceli, Montiel-Hernández, Gustavo Daniel, Hernández-Hernández, Ofelia, Ramos-de la Cruz, Flor del Rocío, Juárez-Nicolás, Francisco, Pantoja-Torres, Jorge Arturo, Rodríguez-Munguía, Tirzo Jesús, Juárez-Barreto, Vicencio, Delgado-Aguirre, Héctor, Escutia-González, Ariadna Berenice, Goné-Vázquez, Isis, Benítez-Arvizu, Gamaliel, Arellano-Prado, Francia Paulina, García-Arias, Víctor Eduardo, Rodríguez-López, Marla Estefanía, Méndez-Mani, Patricia, García-Álvarez, Raquel, González-Martínez, Marisela del Rocío, Aquino-Rubio, Guadalupe, Escareño-Montiel, Néstor, Vázquez-Castillo, Tannya Verónica, Uribe-Duarte, María Guadalupe, Ruíz-Corral, María de Jesús, Ortega-Yáñez, Andrea, Bernal-Felipe, Natalia, Gómez-Navarro, Benjamín, Arriaga-Perea, Agustín Jericó, Martínez-Bezies, Virginia, Macías-Medrano, Rosa María, Aguilar-Campos, Jesús Abraham, Solís-Martínez, Raúl, Serrano-Osuna, Ricardo, Sandoval-Sandoval, Mario J., Jaramillo-Rodríguez, Yolanda, Salgado-Adame, Antonio, Juárez-de la Cruz, Federico, Novelo-Garza, Bárbara, Pavón-Vargas, María de los Ángeles, Salgado-Galicia, Norma, Bortolini, Maria Cátira, Gallo, Carla, Bedoya, Gabriel, Rothhammer, Francisco, González-José, Rolando, Ruiz-Linares, Andrés, Canizales-Quinteros, Samuel, Romero-Hidalgo, Sandra, Krause, Johannes, Zúñiga, Joaquín, Yunis, Edmond J., Bekker-Méndez, Carolina, and Granados, Julio
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- 2020
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8. Automatic feature extraction and classification of Iberian ceramics based on deep convolutional networks
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Cintas, Celia, Lucena, Manuel, Fuertes, José Manuel, Delrieux, Claudio, Navarro, Pablo, González-José, Rolando, and Molinos, Manuel
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- 2020
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9. Testing an ethnographic analogy through geometric morphometrics: A comparison between ethnographic arrows and archaeological projectile points from Late Holocene Fuego-Patagonia
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Charlin, Judith and González-José, Rolando
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- 2018
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10. The first human settlement of the New World: A closer look at craniofacial variation and evolution of early and late Holocene Native American groups
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de Azevedo, Soledad, Quinto-Sánchez, Mirsha, Paschetta, Carolina, and González-José, Rolando
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- 2017
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11. A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia
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Adhikari, Kaustubh, Mendoza-Revilla, Javier, Sohail, Anood, Fuentes-Guajardo, Macarena, Lampert, Jodie, Chacón-Duque, Juan Camilo, Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Acuña-Alonzo, Victor, Jaramillo, Claudia, Arias, William, Lozano, Rodrigo Barquera, Everardo, Paola, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, Silva de Cerqueira, Caio C., Hunemeier, Tábita, Ramallo, Virginia, Schuler-Faccini, Lavinia, Salzano, Francisco M., Gonzalez-José, Rolando, Bortolini, Maria-Cátira, Canizales-Quinteros, Samuel, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Rothhammer, Francisco, Tobin, Desmond J., Fumagalli, Matteo, Balding, David, and Ruiz-Linares, Andrés
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- 2019
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12. Genome-wide association studies identify DNA variants influencing eyebrow thickness variation in Europeans and across continental populations
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Peng, Fuduan, primary, Xiong, Ziyi, additional, Zhu, Gu, additional, Hysi, Pirro G., additional, Eller, Ryan J., additional, Wu, Sijie, additional, Adhikari, Kaustubh, additional, Chen, Yan, additional, Li, Yi, additional, Gonzalez-José, Rolando, additional, Schüler-Faccini, Lavinia, additional, Bortolini, Maria-Cátira, additional, Acuña-Alonzo, Victor, additional, Canizales-Quinteros, Samuel, additional, Gallo, Carla, additional, Poletti, Giovanni, additional, Bedoya, Gabriel, additional, Rothhammer, Francisco, additional, Uitterlinden, André G., additional, Ikram, M. Arfan, additional, Nijsten, Tamar, additional, Ruiz-Linares, Andrés, additional, Wang, Sijia, additional, Walsh, Susan, additional, Spector, Timothy D., additional, Martin, Nicholas G., additional, Kayser, Manfred, additional, and Liu, Fan, additional
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- 2023
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13. Drosophila wing modularity revisited through a quantitative genetic approach
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Muñoz-Muñoz, Francesc, Carreira, Valeria Paula, Martínez-Abadías, Neus, Ortiz, Victoria, González-José, Rolando, and Soto, Ignacio M.
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- 2016
14. GWAs Identify DNA Variants Influencing Eyebrow Thickness Variation in Europeans and Across Continental Populations
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Peng, Fuduan, Xiong, Ziyi, Zhu, Gu, Hysi, Pirro G., Eller, Ryan J., Wu, Sijie, Adhikari, Kaustubh, Chen, Yan, Li, Yi, Gonzalez-José, Rolando, Schüler-Faccini, Lavinia, Bortolini, Maria-Cátira, Acuña-Alonzo, Victor, Canizales-Quinteros, Samuel, Gallo López-Aliaga, Carla Maria, Poletti Ferrara, Giovanni Angelo, Bedoya, Gabriel, Rothhammer, Francisco, Uitterlinden, André G., Ikram, M. Arfan, Nijsten, Tamar, Ruiz-Linares, Andrés, Wang, Sijia, Walsh, Susan, Spector, Timothy D., Martin, Nicholas G., Kayser, Manfred, and Liu, Fan
- Subjects
Variaciones en el Número de Copia de ADN ,DNA Variants ,Europeans ,Across Continental Populations ,GWAS ,Pueblo Europeo ,Eyebrow Thickness Variation ,Cejas ,Estudio de Asociación del Genoma Completo - Abstract
Human subjects: All cohort participants gave written informed consent and consent to publish. Ethical approvals were provided for the RS according to the Population Study Act Rotterdam Study (Wet Bevolkingsonderzoek ERGO) executed by the Ministry of Health, Welfare and Sports of The Netherlands, for the TwinsUK study by the St. Thomas’ Hospital Local Research Ethics Committee, for the QIMR study by the QIMR Human Research Ethics Committee, and for the US study by the Indiana University Internal...
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- 2023
15. Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits—The Hispanic/Latino Anthropometry Consortium
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Fernández-Rhodes, Lindsay, Graff, Mariaelisa, Buchanan, Victoria L., Justice, Anne E., Highland, Heather M., Guo, Xiuqing, Zhu, Wanying, Chen, Hung-Hsin, Young, Kristin L., Adhikari, Kaustubh, Palmer, Nicholette D., Below, Jennifer E., Bradfield, Jonathan, Pereira, Alexandre C., Glover, LáShauntá, Kim, Daeeun, Lilly, Adam G., Shrestha, Poojan, Thomas, Alvin G., Zhang, Xinruo, Chen, Minhui, Chiang, Charleston W.K., Pulit, Sara, Horimoto, Andrea, Krieger, Jose E., Guindo-Martínez, Marta, Preuss, Michael, Schumann, Claudia, Smit, Roelof A.J., Torres-Mejía, Gabriela, Acuña-Alonzo, Victor, Bedoya, Gabriel, Bortolini, Maria-Cátira, Canizales-Quinteros, Samuel, Gallo, Carla, González-José, Rolando, Poletti, Giovanni, Rothhammer, Francisco, Hakonarson, Hakon, Igo, Robert, Adler, Sharon G., Iyengar, Sudha K., Nicholas, Susanne B., Gogarten, Stephanie M., Isasi, Carmen R., Papnicolaou, George, Stilp, Adrienne M., Qi, Qibin, Kho, Minjung, Smith, Jennifer A., Langefeld, Carl D., Wagenknecht, Lynne, Mckean-Cowdin, Roberta, Gao, Xiaoyi Raymond, Nousome, Darryl, Conti, David V., Feng, Ye, Allison, Matthew A., Arzumanyan, Zorayr, Buchanan, Thomas A., Chen, Yii-Der Ida, Genter, Pauline M., Goodarzi, Mark O., Hai, Yang, Hsueh, Willa, Ipp, Eli, Kandeel, Fouad R., Lam, Kelvin, Li, Xiaohui, Nadler, Jerry L., Raffel, Leslie J., Roll, Kathryn, Sandow, Kevin, Tan, Jingyi, Taylor, Kent D., Xiang, Anny H., Yao, Jie, Audirac-Chalifour, Astride, Peralta Romero, Jose de Jesus, Hartwig, Fernando, Horta, Bernando, Blangero, John, Curran, Joanne E., Duggirala, Ravindranath, Lehman, Donna E., Puppala, Sobha, Fejerman, Laura, John, Esther M., Aguilar-Salinas, Carlos, Burtt, Noël P., Florez, Jose C., García-Ortíz, Humberto, González-Villalpando, Clicerio, Mercader, Josep, Orozco, Lorena, Tusié-Luna, Teresa, Blanco, Estela, Gahagan, Sheila, Cox, Nancy J., Hanis, Craig, Butte, Nancy F., Cole, Shelley A., Comuzzie, Anthony G., Voruganti, V. Saroja, Rohde, Rebecca, Wang, Yujie, Sofer, Tamar, Ziv, Elad, Grant, Struan F.A., Ruiz-Linares, Andres, Rotter, Jerome I., Haiman, Christopher A., Parra, Esteban J., Cruz, Miguel, Loos, Ruth J.F., and North, Kari E.
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- 2023
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16. Identifying design and reduction effects on lithic projectile point shapes
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de Azevedo, Soledad, Charlin, Judith, and González-José, Rolando
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- 2014
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17. Disentangling Signatures of Selection Before and After European Colonization in Latin Americans
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Mendoza-Revilla, Javier, Chacón-Duque, J. Camilo, Fuentes-Guajardo, Macarena, Ormond, Louise, Wang, Ke, Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Acuña-Alonzo, Victor, Jaramillo, Claudia, Arias, William, Barquera, Rodrigo, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, de Cerqueira, Caio C. Silva, Rivera, Keyla M. Badillo, Nieves-Colón, Maria A., Gignoux, Christopher R., Wojcik, Genevieve L., Moreno-Estrada, Andrés, Hünemeier, Tábita, Ramallo, Virginia, Schuler-Faccini, Lavinia, Gonzalez-José, Rolando, Bortolini, Maria-Cátira, Canizales-Quinteros, Samuel, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Rothhammer, Francisco, Balding, David, Fumagalli, Matteo, Adhikari, Kaustubh, Ruiz-Linares, Andrés, Hellenthal, Garrett, Mendoza-Revilla, Javier, Chacón-Duque, J. Camilo, Fuentes-Guajardo, Macarena, Ormond, Louise, Wang, Ke, Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Acuña-Alonzo, Victor, Jaramillo, Claudia, Arias, William, Barquera, Rodrigo, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, de Cerqueira, Caio C. Silva, Rivera, Keyla M. Badillo, Nieves-Colón, Maria A., Gignoux, Christopher R., Wojcik, Genevieve L., Moreno-Estrada, Andrés, Hünemeier, Tábita, Ramallo, Virginia, Schuler-Faccini, Lavinia, Gonzalez-José, Rolando, Bortolini, Maria-Cátira, Canizales-Quinteros, Samuel, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Rothhammer, Francisco, Balding, David, Fumagalli, Matteo, Adhikari, Kaustubh, Ruiz-Linares, Andrés, and Hellenthal, Garrett
- Abstract
Throughout human evolutionary history, large-scale migrations have led to intermixing (i.e., admixture) between previously separated human groups. Although classical and recent work have shown that studying admixture can yield novel historical insights, the extent to which this process contributed to adaptation remains underexplored. Here, we introduce a novel statistical model, specific to admixed populations, that identifies loci under selection while determining whether the selection likely occurred post-admixture or prior to admixture in one of the ancestral source populations. Through extensive simulations, we show that this method is able to detect selection, even in recently formed admixed populations, and to accurately differentiate between selection occurring in the ancestral or admixed population. We apply this method to genome-wide SNP data of ∼4,000 individuals in five admixed Latin American cohorts from Brazil, Chile, Colombia, Mexico, and Peru. Our approach replicates previous reports of selection in the human leukocyte antigen region that are consistent with selection post-admixture. We also report novel signals of selection in genomic regions spanning 47 genes, reinforcing many of these signals with an alternative, commonly used local-ancestry-inference approach. These signals include several genes involved in immunity, which may reflect responses to endemic pathogens of the Americas and to the challenge of infectious disease brought by European contact. In addition, some of the strongest signals inferred to be under selection in the Native American ancestral groups of modern Latin Americans overlap with genes implicated in energy metabolism phenotypes, plausibly reflecting adaptations to novel dietary sources available in the Americas.
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- 2022
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18. PERVASIVE GENETIC INTEGRATION DIRECTS THE EVOLUTION OF HUMAN SKULL SHAPE
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Martínez-Abadías, Neus, Esparza, Mireia, Sjøvold, Torstein, González-José, Rolando, Santos, Mauro, Hernández, Miquel, and Klingenberg, Christian Peter
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- 2012
19. SIZE AND SHAPE VARIATION IN LATE HOLOCENE PROJECTILE POINTS OF SOUTHERN PATAGONIA: A GEOMETRIC MORPHOMETRIC STUDY
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Charlin, Judith and González-José, Rolando
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- 2012
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20. Cultural diversification promotes rapid phenotypic evolution in Xavánte Indians
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Hünemeier, Tábita, Gómez-Valdés, Jorge, Ballesteros-Romero, Mónica, de Azevedo, Soledad, Martínez-Abadías, Neus, Esparza, Mireia, Sjøvold, Torstein, Bonatto, Sandro L., Salzano, Francisco Mauro, Bortolini, Maria Cátira, and González-José, Rolando
- Published
- 2012
21. Disentangling Signatures of Selection Before and After European Colonization in Latin Americans
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Mendoza-Revilla, Javier, primary, Chacón-Duque, J. Camilo, additional, Fuentes-Guajardo, Macarena, additional, Ormond, Louise, additional, Wang, Ke, additional, Hurtado, Malena, additional, Villegas, Valeria, additional, Granja, Vanessa, additional, Acuña-Alonzo, Victor, additional, Jaramillo, Claudia, additional, Arias, William, additional, Barquera, Rodrigo, additional, Gómez-Valdés, Jorge, additional, Villamil-Ramírez, Hugo, additional, Silva de Cerqueira, Caio C., additional, Badillo Rivera, Keyla M., additional, Nieves-Colón, Maria A., additional, Gignoux, Christopher R., additional, Wojcik, Genevieve L., additional, Moreno-Estrada, Andrés, additional, Hünemeier, Tábita, additional, Ramallo, Virginia, additional, Schuler-Faccini, Lavinia, additional, Gonzalez-José, Rolando, additional, Bortolini, Maria-Cátira, additional, Canizales-Quinteros, Samuel, additional, Gallo, Carla, additional, Poletti, Giovanni, additional, Bedoya, Gabriel, additional, Rothhammer, Francisco, additional, Balding, David, additional, Fumagalli, Matteo, additional, Adhikari, Kaustubh, additional, Ruiz-Linares, Andrés, additional, and Hellenthal, Garrett, additional
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- 2022
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22. Fully automatic landmarking of 2D photographs identifies novel genetic loci influencing facial features
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Li, Qing, primary, Chen, Jieyi, additional, Faux, Pierre, additional, Bonfante, Betty, additional, Fuentes-Guajardo, Macarena, additional, Mendoza-Revilla, Javier, additional, Chacón-Duque, Juan, additional, Hurtado, Malena, additional, Villegas, Valeria, additional, Granja, Vanessa, additional, Jaramillo, Claudia, additional, Arias, William, additional, Barquera, Rodrigo, additional, Everardo-Martínez, Paola, additional, Sánchez-Quinto, Mirsha, additional, Gómez-Valdés, Jorge, additional, Villamil-Ramírez, Hugo, additional, de Cerqueira, Caio C. Silva, additional, Hünemeier, Tábita, additional, Ramallo, Virginia, additional, Wu, Sijie, additional, Du, Siyuan, additional, Gonzalez-José, Rolando, additional, Schüler-Faccini, Lavinia, additional, Bortolini, Maria-Cátira, additional, Acuña-Alonzo, Victor, additional, Canizales-Quinteros, Samuel, additional, Gallo, Carla, additional, Poletti, Giovanni, additional, Rojas, Winston, additional, Rothhammer, Francisco, additional, Navarro, Nicolas, additional, Wang, Sijia, additional, Adhikari, Kaustubh, additional, and Ruiz-Linares, Andrés, additional
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- 2022
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23. Detection of a Population Replacement at the Classic-Postclassic Transition in Mexico
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González-José, Rolando, Martínez-Abadías, Neus, González-Martín, Antonio, Bautista-Martínez, Josefina, Gómez-Valdés, Jorge, Quinto, Mirsha, and Hernández, Miquel
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- 2007
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24. Disentangling signatures of selection before and after European colonization in Latin Americans
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Mendoza-Revilla, Javier, primary, Chacón-Duque, Juan Camilo, additional, Fuentes-Guajardo, Macarena, additional, Ormond, Louise, additional, Wang, Ke, additional, Hurtado, Malena, additional, Villegas, Valeria, additional, Granja, Vanessa, additional, Acuña-Alonzo, Victor, additional, Jaramillo, Claudia, additional, Arias, William, additional, Lozano, Rodrigo Barquera, additional, Gómez-Valdés, Jorge, additional, Villamil-Ramírez, Hugo, additional, Silva de Cerqueira, Caio C., additional, Badillo Rivera, Keyla M., additional, Nieves-Colón, Maria A., additional, Gignoux, Christopher R., additional, Wojcik, Genevieve L., additional, Moreno-Estrada, Andrés, additional, Hunemeier, Tábita, additional, Ramallo, Virginia, additional, Schuler-Faccini, Lavinia, additional, Gonzalez-José, Rolando, additional, Bortolini, Maria-Cátira, additional, Canizales-Quinteros, Samuel, additional, Gallo, Carla, additional, Poletti, Giovanni, additional, Bedoya, Gabriel, additional, Rothhammer, Francisco, additional, Balding, David, additional, Fumagalli, Matteo, additional, Adhikari, Kaustubh, additional, Ruiz-Linares, Andrés, additional, and Hellenthal, Garrett, additional
- Published
- 2021
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25. NNT mediates redox-dependent pigmentation via a UVB- and MITF-independent mechanism
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Allouche, Jennifer, primary, Rachmin, Inbal, additional, Adhikari, Kaustubh, additional, Pardo, Luba M., additional, Lee, Ju Hee, additional, McConnell, Alicia M., additional, Kato, Shinichiro, additional, Fan, Shaohua, additional, Kawakami, Akinori, additional, Suita, Yusuke, additional, Wakamatsu, Kazumasa, additional, Igras, Vivien, additional, Zhang, Jianming, additional, Navarro, Paula P., additional, Lugo, Camila Makhlouta, additional, Noonan, Haley R., additional, Christie, Kathleen A., additional, Itin, Kaspar, additional, Mujahid, Nisma, additional, Lo, Jennifer A., additional, Won, Chong Hyun, additional, Evans, Conor L., additional, Weng, Qing Yu, additional, Wang, Hequn, additional, Osseiran, Sam, additional, Lovas, Alyssa, additional, Németh, István, additional, Cozzio, Antonio, additional, Navarini, Alexander A., additional, Hsiao, Jennifer J., additional, Nguyen, Nhu, additional, Kemény, Lajos V., additional, Iliopoulos, Othon, additional, Berking, Carola, additional, Ruzicka, Thomas, additional, Gonzalez-José, Rolando, additional, Bortolini, Maria-Cátira, additional, Canizales-Quinteros, Samuel, additional, Acuna-Alonso, Victor, additional, Gallo, Carla, additional, Poletti, Giovanni, additional, Bedoya, Gabriel, additional, Rothhammer, Francisco, additional, Ito, Shosuke, additional, Schiaffino, Maria Vittoria, additional, Chao, Luke H., additional, Kleinstiver, Benjamin P., additional, Tishkoff, Sarah, additional, Zon, Leonard I., additional, Nijsten, Tamar, additional, Ruiz-Linares, Andrés, additional, Fisher, David E., additional, and Roider, Elisabeth, additional
- Published
- 2021
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26. NNT mediates redox-dependent pigmentation via a UVB- and MITF-independent mechanism
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Allouche, Jennifer, Rachmin, Inbal, Adhikari, Kaustubh, Pardo, Luba M., Lee, Ju Hee, McConnell, Alicia M., Kato, Shinichiro, Fan, Shaohua, Kawakami, Akinori, Suita, Yusuke, Wakamatsu, Kazumasa, Igras, Vivien, Zhang, Jianming, Navarro, Paula P., Lugo, Camila Makhlouta, Noonan, Haley R., Christie, Kathleen A., Itin, Kaspar, Mujahid, Nisma, Lo, Jennifer A., Won, Chong Hyun, Evans, Conor L., Weng, Qing Yu, Wang, Hequn, Osseiran, Sam, Lovas, Alyssa, Németh, István, Cozzio, Antonio, Navarini, Alexander A., Hsiao, Jennifer J., Nguyen, Nhu, Kemény, Lajos V., Iliopoulos, Othon, Berking, Carola, Ruzicka, Thomas, Gonzalez-José, Rolando, Bortolini, Maria Cátira, Canizales-Quinteros, Samuel, Acuna-Alonso, Victor, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Rothhammer, Francisco, Ito, Shosuke, Schiaffino, Maria Vittoria, Chao, Luke H., Kleinstiver, Benjamin P., Tishkoff, Sarah, Zon, Leonard I., Nijsten, Tamar, Ruiz-Linares, Andrés, Fisher, David E., Roider, Elisabeth, Allouche, Jennifer, Rachmin, Inbal, Adhikari, Kaustubh, Pardo, Luba M., Lee, Ju Hee, McConnell, Alicia M., Kato, Shinichiro, Fan, Shaohua, Kawakami, Akinori, Suita, Yusuke, Wakamatsu, Kazumasa, Igras, Vivien, Zhang, Jianming, Navarro, Paula P., Lugo, Camila Makhlouta, Noonan, Haley R., Christie, Kathleen A., Itin, Kaspar, Mujahid, Nisma, Lo, Jennifer A., Won, Chong Hyun, Evans, Conor L., Weng, Qing Yu, Wang, Hequn, Osseiran, Sam, Lovas, Alyssa, Németh, István, Cozzio, Antonio, Navarini, Alexander A., Hsiao, Jennifer J., Nguyen, Nhu, Kemény, Lajos V., Iliopoulos, Othon, Berking, Carola, Ruzicka, Thomas, Gonzalez-José, Rolando, Bortolini, Maria Cátira, Canizales-Quinteros, Samuel, Acuna-Alonso, Victor, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Rothhammer, Francisco, Ito, Shosuke, Schiaffino, Maria Vittoria, Chao, Luke H., Kleinstiver, Benjamin P., Tishkoff, Sarah, Zon, Leonard I., Nijsten, Tamar, Ruiz-Linares, Andrés, Fisher, David E., and Roider, Elisabeth
- Abstract
Ultraviolet (UV) light and incompletely understood genetic and epigenetic variations determine skin color. Here we describe an UV- and microphthalmia-associated transcription factor (MITF)-independent mechanism of skin pigmentation. Targeting the mitochondrial redox-regulating enzyme nicotinamide nucleotide transhydrogenase (NNT) resulted in cellular redox changes that affect tyrosinase degradation. These changes regulate melanosome maturation and, consequently, eumelanin levels and pigmentation. Topical application of small-molecule inhibitors yielded skin darkening in human skin, and mice with decreased NNT function displayed increased pigmentation. Additionally, genetic modification of NNT in zebrafish alters melanocytic pigmentation. Analysis of four diverse human cohorts revealed significant associations of skin color, tanning, and sun protection use with various single-nucleotide polymorphisms within NNT. NNT levels were independent of UVB irradiation and redox modulation. Individuals with postinflammatory hyperpigmentation or lentigines displayed decreased skin NNT levels, suggesting an NNT-driven, redox-dependent pigmentation mechanism that can be targeted with NNT-modifying topical drugs for medical and cosmetic purposes.
- Published
- 2021
27. A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation
- Author
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Bonfante, Betty, primary, Faux, Pierre, additional, Navarro, Nicolas, additional, Mendoza-Revilla, Javier, additional, Dubied, Morgane, additional, Montillot, Charlotte, additional, Wentworth, Emma, additional, Poloni, Lauriane, additional, Varón-González, Ceferino, additional, Jones, Philip, additional, Xiong, Ziyi, additional, Fuentes-Guajardo, Macarena, additional, Palmal, Sagnik, additional, Chacón-Duque, Juan Camilo, additional, Hurtado, Malena, additional, Villegas, Valeria, additional, Granja, Vanessa, additional, Jaramillo, Claudia, additional, Arias, William, additional, Barquera, Rodrigo, additional, Everardo-Martínez, Paola, additional, Sánchez-Quinto, Mirsha, additional, Gómez-Valdés, Jorge, additional, Villamil-Ramírez, Hugo, additional, Silva de Cerqueira, Caio C., additional, Hünemeier, Tábita, additional, Ramallo, Virginia, additional, Liu, Fan, additional, Weinberg, Seth M., additional, Shaffer, John R., additional, Stergiakouli, Evie, additional, Howe, Laurence J., additional, Hysi, Pirro G., additional, Spector, Timothy D., additional, Gonzalez-José, Rolando, additional, Schüler-Faccini, Lavinia, additional, Bortolini, Maria-Cátira, additional, Acuña-Alonzo, Victor, additional, Canizales-Quinteros, Samuel, additional, Gallo, Carla, additional, Poletti, Giovanni, additional, Bedoya, Gabriel, additional, Rothhammer, Francisco, additional, Thauvin-Robinet, Christel, additional, Faivre, Laurence, additional, Costedoat, Caroline, additional, Balding, David, additional, Cox, Timothy, additional, Kayser, Manfred, additional, Duplomb, Laurence, additional, Yalcin, Binnaz, additional, Cotney, Justin, additional, Adhikari, Kaustubh, additional, and Ruiz-Linares, Andrés, additional
- Published
- 2021
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28. Prediction of Eye, Hair and Skin Color in Admixed Populations of Latin America
- Author
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Palmal, Sagnik, primary, Adhikari, Kaustubh, additional, Mendoza-Revilla, Javier, additional, Fuentes-Guajardo, Macarena, additional, de Cerqueira, Caio C. Silva, additional, Chacón-Duque, Juan Camilo, additional, Sohail, Anood, additional, Hurtado, Malena, additional, Villegas, Valeria, additional, Granja, Vanessa, additional, Jaramillo, Claudia, additional, Arias, William, additional, Lozano, Rodrigo Barquera, additional, Everardo-Martínez, Paola, additional, Gómez-Valdés, Jorge, additional, Villamil-Ramírez, Hugo, additional, Hünemeier, Tábita, additional, Ramallo, Virginia, additional, Gonzalez-José, Rolando, additional, Schüler-Faccini, Lavinia, additional, Bortolini, Maria-Cátira, additional, Acuña-Alonzo, Victor, additional, Canizales-Quinteros, Samuel, additional, Gallo, Carla, additional, Poletti, Giovanni, additional, Bedoya, Gabriel, additional, Rothhammer, Francisco, additional, Balding, David, additional, Faux, Pierre, additional, and Ruiz-Linares, Andrés, additional
- Published
- 2020
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- View/download PDF
29. East–West cranial differentiation in pre-Columbian human populations of South America
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Pucciarelli, Héctor M., Neves, Walter A., González-José, Rolando, Sardi, Marina L., Rozzi, Fernando Ramírez, Struck, Adelaida, and Bonilla, Mary Y.
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- 2006
- Full Text
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30. body2vec: 3D Point Cloud Reconstruction for Precise Anthropometry with Handheld Devices
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Trujillo-Jiménez, Magda Alexandra, primary, Navarro, Pablo, additional, Pazos, Bruno, additional, Morales, Leonardo, additional, Ramallo, Virginia, additional, Paschetta, Carolina, additional, De Azevedo, Soledad, additional, Ruderman, Anahí, additional, Pérez, Orlando, additional, Delrieux, Claudio, additional, and Gonzalez-José, Rolando, additional
- Published
- 2020
- Full Text
- View/download PDF
31. Automatic Ear Detection and Segmentation over Partially Occluded Profile Face Images
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Cintas, Celia, primary, Delrieux, Claudio, additional, Navarro, Pablo, additional, Quinto-Sánchez, Mirsha, additional, Pazos, Bruno, additional, and Gonzalez-José, Rolando, additional
- Published
- 2019
- Full Text
- View/download PDF
32. Variation in dental morphology and inference of continental ancestry in admixed Latin Americans
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Delgado, Miguel, primary, Ramírez, Luis Miguel, additional, Adhikari, Kaustubh, additional, Fuentes-Guajardo, Macarena, additional, Zanolli, Clément, additional, Gonzalez-José, Rolando, additional, Canizales, Samuel, additional, Bortolini, Maria-Catira, additional, Poletti, Giovanni, additional, Gallo, Carla, additional, Rothhammer, Francisco, additional, Bedoya, Gabriel, additional, and Ruiz-Linares, Andres, additional
- Published
- 2018
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- View/download PDF
33. An automatic system for spermiogram analysis based on image processing techniques and support vector machines
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Revollo Sarmiento, Natalia Verónica, primary, Delrieux, Claudio, primary, Gonzalez-José, Rolando, primary, and Izetta, Javier, primary
- Published
- 2018
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34. Leaf shape variation as a potential biomarker of soil pollution
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Pollicelli, Maria de la Paz, primary, Idaszkin, Yanina L., additional, Gonzalez-José, Rolando, additional, and Márquez, Federico, additional
- Published
- 2018
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35. Latin Americans show wide-spread Converso ancestry and the imprint of local Native ancestry on physical appearance
- Author
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Chacon-Duque, Juan C., primary, Adhikari, Kaustubh, additional, Fuentes-Guajardo, Macarena, additional, Mendoza-Revilla, Javier, additional, Acunñ-Alonzo, Victor, additional, Barquera Lozano, Rodrigo, additional, Quinto-Sánchez, Mirsha, additional, Gómez-Valdés, Jorge, additional, Everardo Martínez, Paola, additional, Villamil-Ramírez, Hugo, additional, Hünemeier, Tábita, additional, Ramallo, Virginia, additional, Silva de Cerqueira, Caio C., additional, Hurtado, Malena, additional, Villegas, Valeria, additional, Granja, Vanessa, additional, Villena, Mercedes, additional, Vásquez, René, additional, Llop, Elena, additional, Sandoval, José R., additional, Salazar-Granara, Alberto A., additional, Parolin, Maria-Laura, additional, Sandoval, Karla, additional, Peñaloza-Espinosa, Rosenda I., additional, Rangel-Villalobos, Hector, additional, Winkler, Cheryl, additional, Klitz, William, additional, Bravi, Claudio, additional, Molina, Julio, additional, Corach, Daniel, additional, Barrantes, Ramiro, additional, Gomes, Verónica, additional, Resende, Carlos, additional, Gusmão, Leonor, additional, Amorim, Antonio, additional, Xue, Yali, additional, Dugoujon, Jean-Michel, additional, Moral, Pedro, additional, Gonzalez-José, Rolando, additional, Schuler-Faccini, Lavinia, additional, Salzano, Francisco M., additional, Bortolini, Maria-Cátira, additional, Canizales-Quinteros, Samuel, additional, Poletti, Giovanni, additional, Gallo, Carla, additional, Bedoya, Gabriel, additional, Rothhammer, Francisco, additional, Balding, David, additional, Hellenthal, Garrett, additional, and Ruiz-Linares, Andres, additional
- Published
- 2018
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36. Relación entre tratamiento hormonal, cirugía-ortodoncia maxilofacial, traumatismos y malformaciones craneofaciales y la asimetría fluctuante
- Author
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Quinto Sánchez, Mirsha Emmanuel, primary, Cintas, Celia, primary, Ramallo, Virginia, primary, Silva de Cerqueira, Caio Cesar, primary, Gomez-Valdés, Jorge, primary, Acuña-Alonzo, Victor, primary, Adhikari, Kaustubh, primary, Everardo, Paola, primary, De Avila, Francisco, primary, Jaramillo, Carla, primary, Arias, Williams, primary, Fuentes, Macarena, primary, Hünemeier, Tábita, primary, Gallo, Carla, primary, Poletti, Giovani, primary, Rosique, Javier, primary, Schuler-Faccini, Lavinia, primary, Bortolini, Maria Catira, primary, Canizales-Quinteros, Samuel, primary, Rothhammer, Francisco, primary, Bedoya, Gabriel, primary, Ruiz-Linares, Andres, primary, and Gonzalez-José, Rolando, primary
- Published
- 2017
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- View/download PDF
37. A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features
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Adhikari, Kaustubh, Fontanil, Tania, Cal, Santiago, Mendoza-Revilla, Javier, Fuentes-Guajardo, Macarena, Chacón-Duque, Juan-Camilo, Al-Saadi, Farah, Johansson, Jeanette A., Quinto-Sanchez, Mirsha, Acuña-Alonzo, Victor, Jaramillo, Claudia, Arias, William, Barquera Lozano, Rodrigo, Macín Pérez, Gastón, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, Hunemeier, Tábita, Ramallo, Virginia, Silva de Cerqueira, Caio C., Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Gallo, Carla, Poletti, Giovanni, Schuler-Faccini, Lavinia, Salzano, Francisco M., Bortolini, Maria-Cátira, Canizales-Quinteros, Samuel, Rothhammer, Francisco, Bedoya, Gabriel, Gonzalez-José, Rolando, Headon, Denis, López-Otín, Carlos, Tobin, Desmond J., Balding, David, and Ruiz-Linares, Andrés
- Subjects
Male ,Science ,Otras Ciencias Biológicas ,purl.org/pe-repo/ocde/ford#1.06.03 [https] ,purl.org/pe-repo/ocde/ford#1.03.00 [https] ,Article ,purl.org/becyt/ford/1 [https] ,Ciencias Biológicas ,Scalp/physiology ,Humans ,purl.org/becyt/ford/1.6 [https] ,Scalp ,integumentary system ,Continental Population Groups ,Gene Expression Regulation/physiology ,Racial Groups ,population genetics ,Genetic Variation ,Face/physiology ,Gene Expression Regulation ,Face ,genome-wide association studies ,purl.org/pe-repo/ocde/ford#1.04.00 [https] ,Female ,sense organs ,CIENCIAS NATURALES Y EXACTAS ,Hair ,Genome-Wide Association Study ,Hair/growth & development - Abstract
We report a genome-wide association scan in over 6,000 Latin Americans for features of scalp hair (shape, colour, greying, balding) and facial hair (beard thickness, monobrow, eyebrow thickness). We found 18 signals of association reaching genome-wide significance (P values 5 × 10−8 to 3 × 10−119), including 10 novel associations. These include novel loci for scalp hair shape and balding, and the first reported loci for hair greying, monobrow, eyebrow and beard thickness. A newly identified locus influencing hair shape includes a Q30R substitution in the Protease Serine S1 family member 53 (PRSS53). We demonstrate that this enzyme is highly expressed in the hair follicle, especially the inner root sheath, and that the Q30R substitution affects enzyme processing and secretion. The genome regions associated with hair features are enriched for signals of selection, consistent with proposals regarding the evolution of human hair., By examining Latin American individuals of mixed European, Native American and African ancestry, Adhikari et al. identify novel loci influencing various features of facial and scalp hair. The study also provides experimental evidence that one of the implicated genes (PRSS53) is expressed in the hair follicle and that the top associated variant alters processing of this enzyme.
- Published
- 2016
38. Automatic ear detection and feature extraction using Geometric Morphometrics and convolutional neural networks
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Cintas, Celia, primary, Quinto‐Sánchez, Mirsha, additional, Acuña, Victor, additional, Paschetta, Carolina, additional, de Azevedo, Soledad, additional, Cesar Silva de Cerqueira, Caio, additional, Ramallo, Virginia, additional, Gallo, Carla, additional, Poletti, Giovanni, additional, Bortolini, Maria Catira, additional, Canizales‐Quinteros, Samuel, additional, Rothhammer, Francisco, additional, Bedoya, Gabriel, additional, Ruiz‐Linares, Andres, additional, Gonzalez‐José, Rolando, additional, and Delrieux, Claudio, additional
- Published
- 2017
- Full Text
- View/download PDF
39. A genome-wide association study identifies multiple loci for variation in human ear morphology
- Author
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Adhikari, Kaustubh, Reales, Guillermo, Smith, Andrew J. P., Konka, Esra, Palmen, Jutta, Quinto-Sanchez, Mirsha, Acuña-Alonzo, Victor, Jaramillo, Claudia, Arias, William, Fuentes, Macarena, Pizarro, María, Barquera Lozano, Rodrigo, Macín Pérez, Gastón, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, Hunemeier, Tábita, Ramallo, Virginia, Silva de Cerqueira, Caio C., Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Gallo, Carla, Poletti, Giovanni, Schuler-Faccini, Lavinia, Salzano, Francisco M., Bortolini, Maria- Cátira, Canizales-Quinteros, Samuel, Rothhammer, Francisco, Bedoya, Gabriel, Calderón, Rosario, Rosique, Javier, Cheeseman, Michael, Bhutta, Mahmood F., Humphries, Steve E., Gonzalez-José, Rolando, Headon, Denis, Balding, David, and Ruiz-Linares, Andrés
- Subjects
Adult ,Male ,Adolescent ,Genotype ,purl.org/pe-repo/ocde/ford#1.06.03 [https] ,purl.org/pe-repo/ocde/ford#1.03.00 [https] ,Polymorphism, Single Nucleotide ,Article ,White People ,Ciencias Biológicas ,purl.org/becyt/ford/1 [https] ,Genética y Herencia ,Mice ,Young Adult ,Cell Line, Tumor ,Morphogenesis ,Homeodomain Proteins/metabolism ,Animals ,Humans ,European Continental Ancestry Group/genetics ,purl.org/becyt/ford/1.6 [https] ,American Indian or Alaska Native ,T-Box Domain Proteins/genetics/metabolism ,pinna morphology ,Homeodomain Proteins ,American Native Continental Ancestry Group/genetics ,Edar Receptor ,Morphogenesis/genetics ,EDAR ,Edar Receptor/genetics ,Latin America ,Phenotype ,Ear Auricle/anatomy & histology/embryology ,purl.org/pe-repo/ocde/ford#1.04.00 [https] ,genome-wide association ,Female ,T-Box Domain Proteins ,CIENCIAS NATURALES Y EXACTAS ,Ear Auricle ,Genome-Wide Association Study - 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 × 10−8 to 3 × 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., The shape of the pinna varies widely in the general human population but the genetic basis of this variation is unknown. Here Adhikari et al. conduct a genome-wide association study in Latin Americans and discover seven gene regions influencing pinna morphology, including EDAR and TBX15.
- Published
- 2015
40. Variation in dental morphology and inference of continental ancestry in admixed Latin Americans.
- Author
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Delgado, Miguel, Ramírez, Luis Miguel, Adhikari, Kaustubh, Fuentes‐Guajardo, Macarena, Zanolli, Clément, Gonzalez‐José, Rolando, Canizales, Samuel, Bortolini, Maria‐Catira, Poletti, Giovanni, Gallo, Carla, Rothhammer, Francisco, Bedoya, Gabriel, and Ruiz‐Linares, Andres
- Subjects
GENETICS ,GENEALOGY ,PERSONALITY ,SEX (Biology) ,AGE - Abstract
Objectives: To investigate the variation in dental nonmetric traits and to evaluate the utility of this variation for inferring genetic ancestry proportions in a sample of admixed Latin Americans. Materials and Methods: We characterized a sample from Colombia (N = 477) for 34 dental traits and obtained estimates of individual Native American, European, and African ancestry using genome‐wide SNP data. We tested for correlation between dental traits, genetic ancestry, age, and sex. We carried out a biodistance analysis between the Colombian sample and reference continental population samples using the mean measure of divergence statistic calculated from dental trait frequencies. We evaluated the inference of genetic ancestry from dental traits using a regression approach (with 10‐fold cross‐validation) as well as by testing the correlation between estimates of ancestry obtained from genetic and dental data. Results: Latin Americans show intermediate dental trait frequencies when compared to Native Americans, Europeans, and Africans. Significant correlations were observed for several dental traits, genetic ancestry, age, and sex. The biodistance analysis displayed a closer relationship of Colombians to Europeans than to Native Americans and Africans. Mean ancestry estimates obtained from the dental data are similar to the genetic estimates (Native American: 32% vs. 28%, European: 59% vs. 63%, and African: 9% vs. 9%, respectively). However, dental features provided low predictive power for genetic ancestry of individuals in both approaches tested (R2 < 5% for all genetic ancestries across methods). Discussion: The frequency of dental traits in Latin Americans reflects their admixed Native American, European and African ancestry and can provide reasonable average estimates of genetic ancestry. However, the accuracy of individual genetic ancestry estimates is relatively low, probably influenced by the continental differentiation of dental traits, their genetic architecture, and the distribution of genetic ancestry in the individuals examined. [ABSTRACT FROM AUTHOR]
- Published
- 2019
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41. FGFR1 signaling is associated with the magnitude of morphological integration in human head shape
- Author
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Hünemeier, Tabita, Gómez Valdés, Jorge, de Azevedo, Soledad, Quinto Sanchez, Mirsha Emmanuel, Passaglia, Luciane, Salzano, Francisco M., Sánchez Mejorada, Gabriela, Acuña Alonzo, Victor, Martínez Abadías, Neus, Bortolini, Maria Catira, and Gonzalez José, Rolando
- Subjects
Ciencias Biológicas ,Genética y Herencia ,FGFR1 ,MORPHOLOGICAL INTEGRATION ,HUMAN HEAD SHAPE ,CIENCIAS NATURALES Y EXACTAS - Abstract
Objectives: The head can be used as a model to study complex phenotypes controlled simultaneously by morphological integration (MI) due to common factors, and modular patterns caused by local factors affecting the development and functional demands of specific structures. The fibroblast growth factor and receptor system (FGF/ FGFR) participates in cell communication and pattern formation in osseous tissues, among others, and there is compel- ling evidence from mouse model studies suggesting a role of the FGF/FGFR pathway as a covariance-generating signal- ing process in head development. Here we use human data to test if specific genetic variants of another gene of this pathway, the FGFR1 gene, can be associated with differences in the integration of the head. Methods: We explored whether and how three specific variants on FGFR1, previously associated with human cephalic index, influence the pattern and level of head integration of one Native American and one admixed group from Mexico. MI, measured as the intensity of covariation among head traits, was assessed using data from three- dimensional head landmark coordinates taken on 176 individuals. Results: Individuals carrying the derived allele of the rs4647905:G>C polymorphism present significantly greater levels of head MI, especially in facial structures and on the shape space where the modular portion of the covariation is explicitly removed. Conclusions: Since FGFR genes present nonconservative and tissue-specific splicing sites, they may have some effect on protein structure and performance likely involved in developmental processes responsible for the magnitude and pattern of MI in the human head. Fil: Hünemeier, Tabita. Universidade Federal do Rio Grande do Sul; Brasil Fil: Gómez Valdés, Jorge. Universidad Nacional Autónoma de México. Facultad de Medicina; México Fil: de Azevedo, Soledad. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Nacional Patagónico; Argentina Fil: Quinto Sanchez, Mirsha Emmanuel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Nacional Patagónico; Argentina Fil: Passaglia, Luciane. Universidade Federal do Rio Grande do Sul; Brasil Fil: Salzano, Francisco M.. Universidade Federal do Rio Grande do Sul; Brasil Fil: Sánchez Mejorada, Gabriela. Universidad Nacional Autónoma de México. Facultad de Medicina; México Fil: Acuña Alonzo, Victor. Escuela Nacional de Antropología e Historia; México Fil: Martínez Abadías, Neus. EMBL-CRG Systems Biology Research Unit, Center for Genomic Regulation (CRG); España Fil: Bortolini, Maria Catira. Universidade Federal do Rio Grande do Sul; Brasil Fil: Gonzalez José, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Nacional Patagónico; Argentina
- Published
- 2013
42. Admixture in Latin America: geographic structure, phenotypic diversity and self-perception of ancestry based on 7,342 individuals
- Author
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Ruiz-Linares, Andrés, Adhikari, Kaustubh, Acuña-Alonzo, Victor, Quinto-Sanchez, Mirsha, Jaramillo, Claudia, Arias, William, Fuentes, Macarena, Pizarro, María, Everardo, Paola, de Avila, Francisco, Gómez-Valdés, Jorge, León-Mimila, Paola, Hunemeier, Tábita, Ramallo, Virginia, Silva de Cerqueira, Caio C., Burley, Mari-Wyn, Konca, Esra, de Oliveira, Marcelo Zagonel, Veronez, Mauricio Roberto, Rubio-Codina, Marta, Attanasio, Orazio, Gibbon, Sahra, Ray, Nicolas, Gallo, Carla, Poletti, Giovanni, Rosique, Javier, Schuler-Faccini, Lavinia, Salzano, Francisco M., Bortolini, Maria-Cátira, Canizales-Quinteros, Samuel, Rothhammer, Francisco, Bedoya, Gabriel, Balding, David, and Gonzalez-José, Rolando
- Subjects
Male ,lcsh:QH426-470 ,purl.org/pe-repo/ocde/ford#1.06.03 [https] ,Ethnic Groups/genetics ,Diversidad genética humana ,Quantitative Trait, Heritable ,América Latina ,Ethnicity ,Genetics ,Humans ,ddc:333.7-333.9 ,Diversidad ,Geography ,Genetic Variation ,Biology and Life Sciences ,Human Genetics ,Biological Evolution ,Self Concept ,lcsh:Genetics ,Genetics, Population ,Latin America ,Phenotype ,Female ,América Latina - Geografía ,Fenotipo ,purl.org/pe-repo/ocde/ford#1.06.07 [https] ,Research Article - Abstract
The current genetic makeup of Latin America has been shaped by a history of extensive admixture between Africans, Europeans and Native Americans, a process taking place within the context of extensive geographic and social stratification. We estimated individual ancestry proportions in a sample of 7,342 subjects ascertained in five countries (Brazil, Chile, Colombia, México and Perú). These individuals were also characterized for a range of physical appearance traits and for self-perception of ancestry. The geographic distribution of admixture proportions in this sample reveals extensive population structure, illustrating the continuing impact of demographic history on the genetic diversity of Latin America. Significant ancestry effects were detected for most phenotypes studied. However, ancestry generally explains only a modest proportion of total phenotypic variation. Genetically estimated and self-perceived ancestry correlate significantly, but certain physical attributes have a strong impact on self-perception and bias self-perception of ancestry relative to genetically estimated ancestry., Author Summary Latin America has a history of extensive mixing between Native Americans and people arriving from Europe and Africa. As a result, individuals in the region have a highly heterogeneous genetic background and show great variation in physical appearance. Latin America offers an excellent opportunity to examine the genetic basis of the differentiation in physical appearance between Africans, Europeans and Native Americans. The region is also an advantageous setting in which to examine the interplay of genetic, physical and social factors in relation to ethnic/racial self-perception. Here we present the most extensive analysis of genetic ancestry, physical diversity and self-perception of ancestry yet conducted in Latin America. We find significant geographic variation in ancestry across the region, this variation being consistent with demographic history and census information. We show that genetic ancestry impacts many aspects of physical appearance. We observe that self-perception is highly influenced by physical appearance, and that variation in physical appearance biases self-perception of ancestry relative to genetically estimated ancestry.
- Published
- 2013
43. Iron, Zinc and Calcium dialyzability from extruded product based on whole grain amaranth (A. caudatus and A. cruentus) and amaranth / Zea mays blends
- Author
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Galan, Maria Gimena, Drago, Silvina Rosa, Armada, Margarita, and Gonzalez José, Rolando
- Subjects
Alimentos y Bebidas ,Nutrición, Dietética ,CIENCIAS MÉDICAS Y DE LA SALUD ,Otras Ingenierías y Tecnologías ,DIALYZABILITY ,Ciencias de la Salud ,EXTRUSION ,INGENIERÍAS Y TECNOLOGÍAS ,AMARANTH - Abstract
Amaranth is a Native American grain appreciated for its high nutritional properties including high mineral content. The aim of this study was to evaluate the availability of Fe, Zn and Ca from extruded products made with two varieties of amaranth and their mixtures with maize at two levels of replacement. Mineral availability was estimated using dialyzability method. The contents of Fe (64.0–84.0 mg/kg), Ca (1977.5–2348.8 mg/kg) and Zn (30.0–32.1 mg/kg) were higher in amaranth than in maize products (6.2, 19.1, 9.7 mg/kg, respectively). Mineral availability was in the range of (2.0–3.6%), (3.3–11.1%) and (1.6–11.4%) for Fe, Ca and Zn, respectively. Extruded amaranth and amaranth/maize products provide higher amount of Fe and Ca than extruded maize. Extruded amaranth products and amaranth addition to maize could be an interesting way to increase nutritional value of extruded products. Fil: Galan, Maria Gimena. Universidad Nacional del Litoral. Facultad de Ingeniería Química. Instituto de Tecnología de Los Alimentos; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Santa Fe; Argentina Fil: Drago, Silvina Rosa. Universidad Nacional del Litoral. Facultad de Ingeniería Química. Instituto de Tecnología de los Alimentos; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Santa Fe; Argentina Fil: Armada, Margarita. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Salta. Instituto de Investigación para la Industria Química (i); Argentina Fil: Gonzalez José, Rolando. Universidad Nacional del Litoral. Facultad de Ingeniería Química. Instituto de Tecnología de Los Alimentos; Argentina
- Published
- 2013
44. Admixture in Latin America: Geographic Structure, Phenotypic Diversity and Self-Perception of Ancestry Based on 7,342 Individuals
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Ruiz-Linares, Andrés, primary, Adhikari, Kaustubh, additional, Acuña-Alonzo, Victor, additional, Quinto-Sanchez, Mirsha, additional, Jaramillo, Claudia, additional, Arias, William, additional, Fuentes, Macarena, additional, Pizarro, María, additional, Everardo, Paola, additional, de Avila, Francisco, additional, Gómez-Valdés, Jorge, additional, León-Mimila, Paola, additional, Hunemeier, Tábita, additional, Ramallo, Virginia, additional, Silva de Cerqueira, Caio C., additional, Burley, Mari-Wyn, additional, Konca, Esra, additional, de Oliveira, Marcelo Zagonel, additional, Veronez, Mauricio Roberto, additional, Rubio-Codina, Marta, additional, Attanasio, Orazio, additional, Gibbon, Sahra, additional, Ray, Nicolas, additional, Gallo, Carla, additional, Poletti, Giovanni, additional, Rosique, Javier, additional, Schuler-Faccini, Lavinia, additional, Salzano, Francisco M., additional, Bortolini, Maria-Cátira, additional, Canizales-Quinteros, Samuel, additional, Rothhammer, Francisco, additional, Bedoya, Gabriel, additional, Balding, David, additional, and Gonzalez-José, Rolando, additional
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- 2014
- Full Text
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45. Prediction of eye, hair and skin colour in Latin Americans
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Palmal, Sagnik, Adhikari, Kaustubh, Mendoza-Revilla, Javier, Fuentes-Guajardo, Macarena, Silva de Cerqueira, Caio C., Bonfante, Betty, Chacón-Duque, Juan Camilo, Sohail, Anood, Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Jaramillo, Claudia, Arias, William, Lozano, Rodrigo Barquera, Everardo-Martínez, Paola, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, Hünemeier, Tábita, Ramallo, Virginia, Parolin, Maria-Laura, Gonzalez-José, Rolando, Schüler-Faccini, Lavinia, Bortolini, Maria-Cátira, Acuña-Alonzo, Victor, Canizales-Quinteros, Samuel, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Rothhammer, Francisco, Balding, David, Faux, Pierre, Ruiz-Linares, Andrés, Palmal, Sagnik, Adhikari, Kaustubh, Mendoza-Revilla, Javier, Fuentes-Guajardo, Macarena, Silva de Cerqueira, Caio C., Bonfante, Betty, Chacón-Duque, Juan Camilo, Sohail, Anood, Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Jaramillo, Claudia, Arias, William, Lozano, Rodrigo Barquera, Everardo-Martínez, Paola, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, Hünemeier, Tábita, Ramallo, Virginia, Parolin, Maria-Laura, Gonzalez-José, Rolando, Schüler-Faccini, Lavinia, Bortolini, Maria-Cátira, Acuña-Alonzo, Victor, Canizales-Quinteros, Samuel, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Rothhammer, Francisco, Balding, David, Faux, Pierre, and Ruiz-Linares, Andrés
- Abstract
Here we evaluate the accuracy of prediction for eye, hair and skin pigmentation in a dataset of > 6,500 individuals from Mexico, Colombia, Peru, Chile and Brazil (including genome-wide SNP data and quantitative/categorical pigmentation phenotypes - the CANDELA dataset CAN). We evaluated accuracy in relation to different analytical methods and various phenotypic predictors. As expected from statistical principles, we observe that quantitative traits are more sensitive to changes in the prediction models than categorical traits. We find that Random Forest or Linear Regression are generally the best performing methods. We also compare the prediction accuracy of SNP sets defined in the CAN dataset (including 56, 101 and 120 SNPs for eye, hair and skin colour prediction, respectively) to the well-established HIrisPlex-S SNP set (including 6, 22 and 36 SNPs for eye, hair and skin colour prediction respectively). When training prediction models on the CAN data, we observe remarkably similar performances for HIrisPlex-S and the larger CAN SNP sets for the prediction of hair (categorical) and eye (both categorical and quantitative), while the CAN sets outperform HIrisPlex-S for quantitative, but not for categorical skin pigmentation prediction. The performance of HIrisPlex-S, when models are trained in a world-wide sample (although consisting of 80% Europeans, https://hirisplex.erasmusmc.nl), is lower relative to training in the CAN data (particularly for hair and skin colour). Altogether, our observations are consistent with common variation of eye and hair colour having a relatively simple genetic architecture, which is well captured by HIrisPlex-S, even in admixed Latin Americans (with partial European ancestry). By contrast, since skin pigmentation is a more polygenic trait, accuracy is more sensitive to prediction SNP set size, although here this effect was only apparent for a quantitative measure of skin pigmentation. Our results support the use of HIrisPlex-S in the p
46. A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation
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Bonfante, Betty, Faux, Pierre, Navarro, Nicolas, Mendoza-Revilla, Javier, Dubied, Morgane, Montillot, Charlotte, Wentworth, Emma, Poloni, Lauriane, Varón-González, Ceferino, Jones, Philip, Xiong, Ziyi, Fuentes-Guajardo, Macarena, Palmal, Sagnik, Chacón-Duque, Juan Camilo, Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Jaramillo, Claudia, Arias, William, Barquera, Rodrigo, Everardo-Martínez, Paola, Sánchez-Quinto, Mirsha, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, Silva de Cerqueira, Caio C., Hünemeier, Tábita, Ramallo, Virginia, Liu, Fan, Weinberg, Seth M., Shaffer, John R., Stergiakouli, Evie, Howe, Laurence J., Hysi, Pirro G., Spector, Timothy D., Gonzalez-José, Rolando, Schüler-Faccini, Lavinia, Bortolini, Maria-Cátira, Acuña-Alonzo, Victor, Canizales-Quinteros, Samuel, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Rothhammer, Francisco, Thauvin-Robinet, Christel, Faivre, Laurence, Costedoat, Caroline, Balding, David, Cox, Timothy, Kayser, Manfred, Duplomb, Laurence, Yalcin, Binnaz, Cotney, Justin, Adhikari, Kaustubh, Ruiz-Linares, Andrés, Bonfante, Betty, Faux, Pierre, Navarro, Nicolas, Mendoza-Revilla, Javier, Dubied, Morgane, Montillot, Charlotte, Wentworth, Emma, Poloni, Lauriane, Varón-González, Ceferino, Jones, Philip, Xiong, Ziyi, Fuentes-Guajardo, Macarena, Palmal, Sagnik, Chacón-Duque, Juan Camilo, Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Jaramillo, Claudia, Arias, William, Barquera, Rodrigo, Everardo-Martínez, Paola, Sánchez-Quinto, Mirsha, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, Silva de Cerqueira, Caio C., Hünemeier, Tábita, Ramallo, Virginia, Liu, Fan, Weinberg, Seth M., Shaffer, John R., Stergiakouli, Evie, Howe, Laurence J., Hysi, Pirro G., Spector, Timothy D., Gonzalez-José, Rolando, Schüler-Faccini, Lavinia, Bortolini, Maria-Cátira, Acuña-Alonzo, Victor, Canizales-Quinteros, Samuel, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Rothhammer, Francisco, Thauvin-Robinet, Christel, Faivre, Laurence, Costedoat, Caroline, Balding, David, Cox, Timothy, Kayser, Manfred, Duplomb, Laurence, Yalcin, Binnaz, Cotney, Justin, Adhikari, Kaustubh, and Ruiz-Linares, Andrés
- Abstract
To characterize the genetic basis of facial features in Latin Americans, we performed a genome-wide association study (GWAS) of more than 6000 individuals using 59 landmark-based measurements from two-dimensional profile photographs and ~9,000,000 genotyped or imputed single-nucleotide polymorphisms. We detected significant association of 32 traits with at least 1 (and up to 6) of 32 different genomic regions, more than doubling the number of robustly associated face morphology loci reported until now (from 11 to 23). These GWAS hits are strongly enriched in regulatory sequences active specifically during craniofacial development. The associated region in 1p12 includes a tract of archaic adaptive introgression, with a Denisovan haplotype common in Native Americans affecting particularly lip thickness. Among the nine previously unidentified face morphology loci we identified is the VPS13B gene region, and we show that variants in this region also affect midfacial morphology in mice.
47. A genome-wide association study identifies multiple loci for variation in human ear morphology
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Adhikari, Kaustubh, Reales, Guillermo, Smith, Andrew J. P., Konka, Esra, Palmen, Jutta, Quinto-Sanchez, Mirsha, Acuña-Alonzo, Victor, Jaramillo, Claudia, Arias, William, Fuentes, Macarena, Pizarro, María, Barquera Lozano, Rodrigo, Macín Pérez, Gastón, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, Hunemeier, Tábita, Ramallo, Virginia, Silva de Cerqueira, Caio C., Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Gallo, Carla, Poletti, Giovanni, Schuler-Faccini, Lavinia, Salzano, Francisco M., Bortolini, Maria- Cátira, Canizales-Quinteros, Samuel, Rothhammer, Francisco, Bedoya, Gabriel, Calderón, Rosario, Rosique, Javier, Cheeseman, Michael, Bhutta, Mahmood F., Humphries, Steve E., Gonzalez-José, Rolando, Headon, Denis, Balding, David, Ruiz-Linares, Andrés, Adhikari, Kaustubh, Reales, Guillermo, Smith, Andrew J. P., Konka, Esra, Palmen, Jutta, Quinto-Sanchez, Mirsha, Acuña-Alonzo, Victor, Jaramillo, Claudia, Arias, William, Fuentes, Macarena, Pizarro, María, Barquera Lozano, Rodrigo, Macín Pérez, Gastón, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, Hunemeier, Tábita, Ramallo, Virginia, Silva de Cerqueira, Caio C., Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Gallo, Carla, Poletti, Giovanni, Schuler-Faccini, Lavinia, Salzano, Francisco M., Bortolini, Maria- Cátira, Canizales-Quinteros, Samuel, Rothhammer, Francisco, Bedoya, Gabriel, Calderón, Rosario, Rosique, Javier, Cheeseman, Michael, Bhutta, Mahmood F., Humphries, Steve E., Gonzalez-José, Rolando, Headon, Denis, Balding, David, and Ruiz-Linares, Andrés
- 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 × 10−8 to 3 × 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.
48. Admixture in Latin America: Geographic Structure, Phenotypic Diversity and Self-Perception of Ancestry Based on 7,342 Individuals
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Ruiz-Linares, Andrés, Adhikari, Kaustubh, Acuña-Alonzo, Victor, Quinto-Sanchez, Mirsha, Jaramillo, Claudia, Arias, William, Fuentes, Macarena, Pizarro, María, Everardo, Paola, de Avila, Francisco, Gómez-Valdés, Jorge, León-Mimila, Paola, Hunemeier, Tábita, Ramallo, Virginia, Silva de Cerqueira, Caio C., Burley, Mari-Wyn, Konca, Esra, de Oliveira, Marcelo Zagonel, Veronez, Mauricio Roberto, Rubio-Codina, Marta, Attanasio, Orazio, Gibbon, Sahra, Ray, Nicolas, Gallo, Carla, Poletti, Giovanni, Rosique, Javier, Schuler-Faccini, Lavinia, Salzano, Francisco M., Bortolini, Maria-Cátira, Canizales-Quinteros, Samuel, Rothhammer, Francisco, Bedoya, Gabriel, Balding, David, Gonzalez-José, Rolando, Ruiz-Linares, Andrés, Adhikari, Kaustubh, Acuña-Alonzo, Victor, Quinto-Sanchez, Mirsha, Jaramillo, Claudia, Arias, William, Fuentes, Macarena, Pizarro, María, Everardo, Paola, de Avila, Francisco, Gómez-Valdés, Jorge, León-Mimila, Paola, Hunemeier, Tábita, Ramallo, Virginia, Silva de Cerqueira, Caio C., Burley, Mari-Wyn, Konca, Esra, de Oliveira, Marcelo Zagonel, Veronez, Mauricio Roberto, Rubio-Codina, Marta, Attanasio, Orazio, Gibbon, Sahra, Ray, Nicolas, Gallo, Carla, Poletti, Giovanni, Rosique, Javier, Schuler-Faccini, Lavinia, Salzano, Francisco M., Bortolini, Maria-Cátira, Canizales-Quinteros, Samuel, Rothhammer, Francisco, Bedoya, Gabriel, Balding, David, and Gonzalez-José, Rolando
- Abstract
The current genetic makeup of Latin America has been shaped by a history of extensive admixture between Africans, Europeans and Native Americans, a process taking place within the context of extensive geographic and social stratification. We estimated individual ancestry proportions in a sample of 7,342 subjects ascertained in five countries (Brazil, Chile, Colombia, México and Perú). These individuals were also characterized for a range of physical appearance traits and for self-perception of ancestry. The geographic distribution of admixture proportions in this sample reveals extensive population structure, illustrating the continuing impact of demographic history on the genetic diversity of Latin America. Significant ancestry effects were detected for most phenotypes studied. However, ancestry generally explains only a modest proportion of total phenotypic variation. Genetically estimated and self-perceived ancestry correlate significantly, but certain physical attributes have a strong impact on self-perception and bias self-perception of ancestry relative to genetically estimated ancestry.
49. A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia
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Adhikari, Kaustubh, Mendoza-Revilla, Javier, Sohail, Anood, Fuentes-Guajardo, Macarena, Lampert, Jodie, Chacón-Duque, Juan Camilo, Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Acuña-Alonzo, Victor, Jaramillo, Claudia, Arias, William, Lozano, Rodrigo Barquera, Everardo, Paola, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, Silva de Cerqueira, Caio C., Hunemeier, Tábita, Ramallo, Virginia, Schuler-Faccini, Lavinia, Salzano, Francisco M., Gonzalez-José, Rolando, Bortolini, Maria-Cátira, Canizales-Quinteros, Samuel, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Rothhammer, Francisco, Tobin, Desmond J., Fumagalli, Matteo, Balding, David, Ruiz-Linares, Andrés, Adhikari, Kaustubh, Mendoza-Revilla, Javier, Sohail, Anood, Fuentes-Guajardo, Macarena, Lampert, Jodie, Chacón-Duque, Juan Camilo, Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Acuña-Alonzo, Victor, Jaramillo, Claudia, Arias, William, Lozano, Rodrigo Barquera, Everardo, Paola, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, Silva de Cerqueira, Caio C., Hunemeier, Tábita, Ramallo, Virginia, Schuler-Faccini, Lavinia, Salzano, Francisco M., Gonzalez-José, Rolando, Bortolini, Maria-Cátira, Canizales-Quinteros, Samuel, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Rothhammer, Francisco, Tobin, Desmond J., Fumagalli, Matteo, Balding, David, and Ruiz-Linares, Andrés
- Abstract
We report a genome-wide association scan in >6,000 Latin Americans for pigmentation of skin and eyes. We found eighteen signals of association at twelve genomic regions. These include one novel locus for skin pigmentation (in 10q26) and three novel loci for eye pigmentation (in 1q32, 20q13 and 22q12). We demonstrate the presence of multiple independent signals of association in the 11q14 and 15q13 regions (comprising the GRM5/TYR and HERC2/OCA2 genes, respectively) and several epistatic interactions among independently associated alleles. Strongest association with skin pigmentation at 19p13 was observed for an Y182H missense variant (common only in East Asians and Native Americans) in MFSD12, a gene recently associated with skin pigmentation in Africans. We show that the frequency of the derived allele at Y182H is significantly correlated with lower solar radiation intensity in East Asia and infer that MFSD12 was under selection in East Asians, probably after their split from Europeans.
50. Variation in dental morphology and inference of continental ancestry in admixed Latin Americans
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Delgado, Miguel, Ramírez, Luis Miguel, Adhikari, Kaustubh, Fuentes-Guajardo, Macarena, Zanolli, Clément, Gonzalez-José, Rolando, Canizales, Samuel, Bortolini, Maria-Catira, Poletti, Giovanni, Gallo, Carla, Rothhammer, Francisco, Bedoya, Gabriel, Ruiz-Linares, Andres, Delgado, Miguel, Ramírez, Luis Miguel, Adhikari, Kaustubh, Fuentes-Guajardo, Macarena, Zanolli, Clément, Gonzalez-José, Rolando, Canizales, Samuel, Bortolini, Maria-Catira, Poletti, Giovanni, Gallo, Carla, Rothhammer, Francisco, Bedoya, Gabriel, and Ruiz-Linares, Andres
- Abstract
Objectives: To investigate the variation in dental nonmetric traits and to evaluate the utility of this variation for inferring genetic ancestry proportions in a sample of admixed Latin Americans. Materials and Methods: We characterized a sample from Colombia (N = 477) for 34 dental traits and obtained estimates of individual Native American, European, and African ancestry using genome‐wide SNP data. We tested for correlation between dental traits, genetic ancestry, age, and sex. We carried out a biodistance analysis between the Colombian sample and reference continental population samples using the mean measure of divergence statistic calculated from dental trait frequencies. We evaluated the inference of genetic ancestry from dental traits using a regression approach (with 10‐fold cross‐validation) as well as by testing the correlation between estimates of ancestry obtained from genetic and dental data. Results: Latin Americans show intermediate dental trait frequencies when compared to Native Americans, Europeans, and Africans. Significant correlations were observed for several dental traits, genetic ancestry, age, and sex. The biodistance analysis displayed a closer relationship of Colombians to Europeans than to Native Americans and Africans. Mean ancestry estimates obtained from the dental data are similar to the genetic estimates (Native American: 32% vs. 28%, European: 59% vs. 63%, and African: 9% vs. 9%, respectively). However, dental features provided low predictive power for genetic ancestry of individuals in both approaches tested (R2 < 5% for all genetic ancestries across methods). Discussion: The frequency of dental traits in Latin Americans reflects their admixed Native American, European and African ancestry and can provide reasonable average estimates of genetic ancestry. However, the accuracy of individual genetic ancestry estimates is relatively low, probably influe
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