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1. PITX2 expression and Neanderthal introgression in HS3ST3A1 contribute to variation in tooth dimensions in modern humans

Author

Li, Qing, Faux, Pierre, Wentworth Winchester, Emma, Yang, Guangrui, Chen, Yingjie, Ramírez, Luis Miguel, Fuentes-Guajardo, Macarena, Poloni, Lauriane, Steimetz, Emilie, Gonzalez-José, Rolando, Acuña, Victor, Bortolini, Maria-Cátira, Poletti, Giovanni, Gallo, Carla, Rothhammer, Francisco, Rojas, Winston, Zheng, Youyi, Cox, James C., Patel, Vaishali, Hoffman, Matthew P., Ding, Li, Peng, Chenchen, Cotney, Justin, Navarro, Nicolas, Cox, Timothy C., Delgado, Miguel, Adhikari, Kaustubh, and Ruiz-Linares, Andrés

Published
2025
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2. Clotting factor genes are associated with preeclampsia in high-altitude pregnant women in the Peruvian Andes

Author

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

Published
2022
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3. Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits—The Hispanic/Latino Anthropometry Consortium

Author

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., Ida Chen, Yii-Der, 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, de Jesus Peralta Romero, Jose, 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.

Published
2022
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8. NNT mediates redox-dependent pigmentation via a UVB- and MITF-independent mechanism

Author

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

Published
2021
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10. Prediction of eye, hair and skin colour in Latin Americans

Author

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

Published
2021
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11. How natural selection shapes genetic differentiation in the MHC region: A case study with Native Americans

Author

Nunes, Kelly, Maia, Maria Helena Thomaz, dos Santos, Eduardo José Melo, dos Santos, Sidney Emanuel Batista, Guerreiro, João Farias, Petzl-Erler, Maria Luiza, Bedoya, Gabriel, Gallo, Carla, Poletti, Giovanni, Llop, Elena, Tsuneto, Luiza, Bortolini, Maria Cátira, Rothhammer, Francisco, Single, Richard, Ruiz-Linares, Andrés, Rocha, Jorge, and Meyer, Diogo

Published
2021
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13. The immunogenetic diversity of the HLA system in Mexico correlates with underlying population genetic structure

Author

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

Published
2020
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14. Genetic contributors to serum uric acid levels in Mexicans and their effect on premature coronary artery disease

Author

Macias-Kauffer, Luis R., Villamil-Ramírez, Hugo, León-Mimila, Paola, Jacobo-Albavera, Leonor, Posadas-Romero, Carlos, Posadas-Sánchez, Rosalinda, López-Contreras, Blanca E., Morán-Ramos, Sofía, Romero-Hidalgo, Sandra, Acuña-Alonzo, Víctor, del-Río-Navarro, Blanca E., Bortolini, Maria-Cátira, Gallo, Carla, Bedoya, Gabriel, Rothhammer, Francisco, González-Jose, Rolando, Ruiz-Linares, Andrés, Stephens, Christopher R., Velazquez-Cruz, Rafael, Fernández del Valle-Laisequilla, Cecilia, Reyes-García, Juan G., Barranco Garduño, Lina M., Carrasco-Portugal, Miriam del C., Flores-Murrieta, Francisco J., Vargas-Alarcón, Gilberto, Aguilar-Salinas, Carlos A., Villarreal-Molina, Teresa, and Canizales-Quinteros, Samuel

Published
2019
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15. Functional New World monkey oxytocin forms elicit an altered signaling profile and promotes parental care in rats

Author

Parreiras-e-Silva, Lucas T., Vargas-Pinilla, Pedro, Duarte, Diego A., Longo, Dânae, Pardo, Grace Violeta Espinoza, Finkler, Andrea Dulor, Paixão-Côrtes, Vanessa Rodrigues, Paré, Pâmela, Rovaris, Diego L., Oliveira, Eduardo B., Caceres, Rafael Andrade, Gonçalves, Gislene L., Bouvier, Michel, Salzano, Francisco M., Lucion, Aldo B., Costa-Neto, Claudio M., and Bortolini, Maria Cátira

Published
2017

17. Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment

Author

Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Hinds, David A., Hromatka, Bethann S., Huber, Karen E., Kleinman, Aaron, Litterman, Nadia K., McIntyre, Matthew H., Mountain, Joanna L., Noblin, Elizabeth S., Northover, Carrie A.M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Vacic, Vladimir, Wilson, Catherine H., Shaffer, John R., Li, Jinxi, Lee, Myoung Keun, Roosenboom, Jasmien, Orlova, Ekaterina, Adhikari, Kaustabh, Gallo, Carla, 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., Cox, Timothy C., Wang, Sijia, Ruiz-Linares, Andrés, and Weinberg, Seth M.

Published
2017
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18. Genome-wide Ancestry and Demographic History of African-Descendant Maroon Communities from French Guiana and Suriname

Author

Fortes-Lima, Cesar, Gessain, Antoine, Ruiz-Linares, Andres, Bortolini, Maria-Cátira, Migot-Nabias, Florence, Bellis, Gil, Moreno-Mayar, J. Víctor, Restrepo, Berta Nelly, Rojas, Winston, Avendaño-Tamayo, Efren, Bedoya, Gabriel, Orlando, Ludovic, Salas, Antonio, Helgason, Agnar, Gilbert, M. Thomas P., Sikora, Martin, Schroeder, Hannes, and Dugoujon, Jean-Michel

Published
2017
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19. Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci

Author

Li, Yi, primary, Xiong, Ziyi, additional, Zhang, Manfei, additional, Hysi, Pirro G., additional, Qian, Yu, additional, Adhikari, Kaustubh, additional, Weng, Jun, additional, Wu, Sijie, additional, Du, Siyuan, additional, Gonzalez-Jose, Rolando, additional, Schuler-Faccini, Lavinia, additional, Bortolini, Maria-Catira, additional, Acuna-Alonzo, Victor, additional, Canizales-Quinteros, Samuel, additional, Gallo, Carla, additional, Poletti, Giovanni, additional, Bedoya, Gabriel, additional, Rothhammer, Francisco, additional, Wang, Jiucun, additional, Tan, Jingze, additional, Yuan, Ziyu, additional, Jin, Li, additional, Uitterlinden, André G., additional, Ghanbari, Mohsen, additional, Ikram, M. Arfan, additional, Nijsten, Tamar, additional, Zhu, Xiangyu, additional, Lei, Zhen, additional, Jia, Peilin, additional, Ruiz-Linares, Andres, additional, Spector, Timothy D., additional, Wang, Sijia, additional, Kayser, Manfred, additional, and Liu, Fan, additional

Published
2023
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20. Dental size variation in admixed Latin Americans: Effects of age, sex and genomic ancestry

Author

Yang, Guangrui, primary, Chen, Yingjie, additional, Li, Qing, additional, Benítez, Daniel, additional, Ramírez, Luis Miguel, additional, Fuentes-Guajardo, Macarena, additional, Hanihara, Tsunehiko, additional, Scott, G. Richard, additional, Acuña Alonzo, Victor, additional, Gonzalez Jose, Rolando, additional, Bortolini, Maria Catira, additional, Poletti, Giovanni, additional, Gallo, Carla, additional, Rothhammer, Francisco, additional, Rojas, Winston, additional, Zanolli, Clément, additional, Adhikari, Kaustubh, additional, Ruiz-Linares, Andres, additional, and Delgado, Miguel, additional

Published
2023
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21. Neanderthal introgression in SCN9A impacts mechanical pain sensitivity

Author

Faux, Pierre, Ding, Li, Miguel Ramirez-Aristeguieta, Luis, Chacón-Duque, J. Camilo, Comini, Maddalena, Mendoza-Revilla, Javier, Fuentes-Guajardo, Macarena, Jaramillo, Claudia, Arias, William, Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Barquera, Rodrigo, Everardo-Martinez, Paola, Quinto-Sanchez, Mirsha, Gomez-Valdes, Jorge, Villamil-Ramirez, Hugo, Silva de Cerqueira, Caio C., Hunemeier, Tabita, Ramallo, Virginia, Gonzalez-Jose, Rolando, Schuler-Faccini, Lavinia, Bortolini, Maria-Catira, Acuna-Alonzo, Victor, Canizales-Quinteros, Samuel, Poletti, Giovanni, Gallo, Carla, Rothhammer, Francisco, Rojas, Winston, Schmid, Annina B., Adhikari, Kaustubh, Bennett, David L., Ruiz-Linares, Andres, Faux, Pierre, Ding, Li, Miguel Ramirez-Aristeguieta, Luis, Chacón-Duque, J. Camilo, Comini, Maddalena, Mendoza-Revilla, Javier, Fuentes-Guajardo, Macarena, Jaramillo, Claudia, Arias, William, Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Barquera, Rodrigo, Everardo-Martinez, Paola, Quinto-Sanchez, Mirsha, Gomez-Valdes, Jorge, Villamil-Ramirez, Hugo, Silva de Cerqueira, Caio C., Hunemeier, Tabita, Ramallo, Virginia, Gonzalez-Jose, Rolando, Schuler-Faccini, Lavinia, Bortolini, Maria-Catira, Acuna-Alonzo, Victor, Canizales-Quinteros, Samuel, Poletti, Giovanni, Gallo, Carla, Rothhammer, Francisco, Rojas, Winston, Schmid, Annina B., Adhikari, Kaustubh, Bennett, David L., and Ruiz-Linares, Andres

Abstract

The Nav1.7 voltage-gated sodium channel plays a key role in nociception. Three functional variants in the SCN9A gene (encoding M932L, V991L, and D1908G in Nav1.7), have recently been identified as stemming from Neanderthal introgression and to associate with pain symptomatology in UK BioBank data. In 1000 genomes data, these variants are absent in Europeans but common in Latin Americans. Analysing high-density genotype data from 7594 Latin Americans, we characterized Neanderthal introgression in SCN9A. We find that tracts of introgression occur on a Native American genomic background, have an average length of similar to 123kb and overlap the M932L, V991L, and D1908G coding positions. Furthermore, we measured experimentally six pain thresholds in 1623 healthy Colombians. We found that Neanderthal ancestry in SCN9A is significantly associated with a lower mechanical pain threshold after sensitization with mustard oil and evidence of additivity of effects across Nav1.7 variants. Our findings support the reported association of Neanderthal Nav1.7 variants with clinical pain, define a specific sensory modality affected by archaic introgression in SCN9A and are consistent with independent effects of the Neanderthal variants on Nav1.7 function. Neanderthal-derived variants in the SCN9A gene (encoding the voltage gated sodium channel, Nav1.7) are associated with enhanced experimental mechanical pain sensitivity in modern humans.

Published
2023
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22. Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci

Author

Li, Yi, Xiong, Ziyi, Zhang, Manfei, Hysi, Pirro G., Qian, Yu, Adhikari, Kaustubh, Weng, Jun, Wu, Sijie, Du, Siyuan, Gonzalez-Jose, Rolando, Schuler-Faccini, Lavinia, Bortolini, Maria Catira, Acuna-Alonzo, Victor, Canizales-Quinteros, Samuel, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Rothhammer, Francisco, Wang, Jiucun, Tan, Jingze, Yuan, Ziyu, Jin, Li, Uitterlinden, André G., Ghanbari, Mohsen, Ikram, M. Arfan, Nijsten, Tamar, Zhu, Xiangyu, Lei, Zhen, Jia, Peilin, Ruiz-Linares, Andres, Spector, Timothy D., Wang, Sijia, Kayser, Manfred, Liu, Fan, Li, Yi, Xiong, Ziyi, Zhang, Manfei, Hysi, Pirro G., Qian, Yu, Adhikari, Kaustubh, Weng, Jun, Wu, Sijie, Du, Siyuan, Gonzalez-Jose, Rolando, Schuler-Faccini, Lavinia, Bortolini, Maria Catira, Acuna-Alonzo, Victor, Canizales-Quinteros, Samuel, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Rothhammer, Francisco, Wang, Jiucun, Tan, Jingze, Yuan, Ziyu, Jin, Li, Uitterlinden, André G., Ghanbari, Mohsen, Ikram, M. Arfan, Nijsten, Tamar, Zhu, Xiangyu, Lei, Zhen, Jia, Peilin, Ruiz-Linares, Andres, Spector, Timothy D., Wang, Sijia, Kayser, Manfred, and Liu, Fan

Abstract

Human ear morphology, a complex anatomical structure represented by a multidimensional set of correlated and heritable phenotypes, has a poorly understood genetic architecture. In this study, we quantitatively assessed 136 ear morphology traits using deep learning analysis of digital face images in 14,921 individuals from five different cohorts in Europe, Asia, and Latin America. Through GWAS meta-analysis and C-GWASs, a recently introduced method to effectively combine GWASs of many traits, we identified 16 genetic loci involved in various ear phenotypes, eight of which have not been previously associated with human ear features. Our findings suggest that ear morphology shares genetic determinants with other surface ectoderm-derived traits such as facial variation, mono eyebrow, and male pattern baldness. Our results enhance the genetic understanding of human ear morphology and shed light on the shared genetic contributors of different surface ectoderm-derived phenotypes. Additionally, gene editing experiments in mice have demonstrated that knocking out the newly ear-associated gene (Intu) and a previously ear-associated gene (Tbx15) causes deviating mouse ear morphology.

Published
2023

24. GWAs Identify DNA Variants Influencing Eyebrow Thickness Variation in Europeans and Across Continental Populations

Author

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, Carla, Poletti, Giovanni, 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

Published
2023
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26. Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits—The Hispanic/Latino Anthropometry Consortium

Author

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.

Published
2023
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27. Genetic evidence for two founding populations of the Americas

Author

Skoglund, Pontus, Mallick, Swapan, Bortolini, Maria Catira, Chennagiri, Niru, Hunemeier, Tabita, Petzl-Erler, Maria Luiza, Salzano, Francisco Mauro, Patterson, Nick, and Reich, David

Subjects
Native Americans -- Genetic aspects -- Natural history, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Genetic studies have consistently indicated a single common origin of Native American groups from Central and South America (1-4). However, some morphological studies have suggested a more complex picture, whereby the northeast Asian affinities of present-day Native Americans contrast with a distinctive morphology seen in some of the earliest American skeletons, which share traits with present-day Australasians (indigenous groups in Australia, Melanesia, and island Southeast Asia) (5-8). Here we analyse genome-wide data to show that some Amazonian Native Americans descend partly from a Native American founding population that carried ancestry more closely related to indigenous Australians, New Guineans and Andaman Islanders than to any present-day Eurasians or Native Americans. This signature is not present to the same extent, or at all, in present-day Northern and Central Americans or in a ~12,600 year-old Clovis-associated genome, suggesting a more diverse set of founding populations of the Americas than previously accepted., All Native American groups studied to date can trace all or much of their ancestry to a single ancestral population that probably migrated across the Bering land bridge from Asia [...]

Published
2015

28. Origins, Admixture Dynamics, and Homogenization of the African Gene Pool in the Americas

Author

Gouveia, Mateus H, primary, Borda, Victor, primary, Leal, Thiago P, primary, Moreira, Rennan G, primary, Bergen, Andrew W, primary, Kehdy, Fernanda S G, primary, Alvim, Isabela, primary, Aquino, Marla M, primary, Araujo, Gilderlanio S, primary, Araujo, Nathalia M, primary, Furlan, Vinicius, primary, Liboredo, Raquel, primary, Machado, Moara, primary, Magalhaes, Wagner C S, primary, Michelin, Lucas A, primary, Rodrigues, Maíra R, primary, Rodrigues-Soares, Fernanda, primary, Sant Anna, Hanaisa P, primary, Santolalla, Meddly L, primary, Scliar, Marília O, primary, Soares-Souza, Giordano, primary, Zamudio, Roxana, primary, Zolini, Camila, primary, Bortolini, Maria Catira, primary, Dean, Michael, primary, Gilman, Robert H, primary, Guio, Heinner, primary, Rocha, Jorge, primary, Pereira, Alexandre C, primary, Barreto, Mauricio L, primary, Horta, Bernardo L, primary, Lima-Costa, Maria F, primary, Mbulaiteye, Sam M, primary, Chanock, Stephen J, primary, Tishkoff, Sarah A, primary, Yeager, Meredith, primary, and Tarazona-Santos, Eduardo, primary

Published
2020
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29. Author response: Novel genetic loci affecting facial shape variation in humans

Author

Xiong, Ziyi, primary, Dankova, Gabriela, additional, Howe, Laurence J, additional, Lee, Myoung Keun, additional, Hysi, Pirro G, additional, de Jong, Markus A, additional, Zhu, Gu, additional, Adhikari, Kaustubh, additional, Li, Dan, additional, Li, Yi, additional, Pan, Bo, additional, Feingold, Eleanor, additional, Marazita, Mary L, additional, Shaffer, John R, additional, McAloney, Kerrie, additional, Xu, Shu-Hua, additional, Jin, Li, additional, Wang, Sijia, additional, de Vrij, Femke MS, additional, Lendemeijer, Bas, additional, Richmond, Stephen, additional, Zhurov, Alexei, additional, Lewis, Sarah, additional, Sharp, Gemma C, additional, Paternoster, Lavinia, additional, Thompson, Holly, additional, Gonzalez-Jose, Rolando, additional, Bortolini, Maria Catira, 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, Wolvius, Eppo, additional, Kushner, Steven A, additional, Nijsten, Tamar EC, additional, Palstra, Robert-Jan TS, additional, Boehringer, Stefan, additional, Medland, Sarah E, additional, Tang, Kun, additional, Ruiz-Linares, Andres, additional, Martin, Nicholas G, additional, Spector, Timothy D, additional, Stergiakouli, Evie, additional, Weinberg, Seth M, additional, Liu, Fan, additional, and Kayser, Manfred, additional

Published
2019
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30. Effects of hormonal treatment, maxilofacial surgery-orthodontics, traumatism, and malformation on fluctuating asymmetry

Author

Quinto Sanchez, Mirsha Emmanuel, Cintas, Celia, Ramallo, Virginia, Silva de Cerqueira, Caio Cesar, Gómez Valdés, Jorge, Acuna Alonzo, Victor, Adhikari, Kaustubh, Everardo, Paola, de Avila, Francisco, Jaramillo, Carla, Arias, Williams, Fuentes Guajardo, Macarena, Hunemeier, Tábita, Gallo, Carla, Poletti, Giovanni, Rosique, Javier, Schuler Faccini, Lavinia, Bortolini, Maria Catira, Canizales Quinteros, Samuel, Rothhammer, Francisco, Bedoya Berrío, Gabriel, Ruiz Linares, Andrés, and González José, Rolando

Subjects
Antropología, Morfometría geométrica, Asimetría fluctuante facial, ASIMETRIA FLUCTUANTE FACIAL, asimetría fluctuante facial, Variaciones morfológicas, Traumatismos maxilofaciales, purl.org/becyt/ford/1 [https], Ciencias Biológicas, Inestabilidad del desarrollo, Fotogrametría, Genética y Herencia, Asimetría facial, malformaciones, inestabilidad del desarrollo, Terapia hormonal, Tratamiento hormonal, tratamiento hormonal, Cirugía maxilofacial, Antropología biólogica, morfometría geométrica, purl.org/becyt/ford/1.6 [https], CIENCIAS NATURALES Y EXACTAS
Abstract

En este trabajo se evalúa la relación entre la asimetría fluctuante facial (AFF) y los tratamientos hormonales, cirugías maxilofaciales, ortodoncia, traumatismos y malformaciones. En el marco del proyecto CANDELA, se tomaron cinco fotografías faciales de 3162 voluntarios entre los 18 y 85 años. Por fotogrametría se colocaron 34 landmarks o puntos en 3D y mediante el método Procrustes ANOVA se obtuvieron valores individuales de asimetría fluctuante facial. Se realizó una prueba de ANOVA de una vía y la prueba de Welch y Levene para conocer las diferencias entre media y varianza de los valores de asimetría facial y las variables respuesta. También, se caracterizó la variación morfológica del componente asimétrico de la forma facial mediante técnicas multivariadas sobre los grupos que resultaran diferentes significativamente. Las mujeres que reportaron haber recibido algún tipo de tratamiento hormonal mostraron mayores valores de asimetría fluctuante facial respecto al grupo sin tratamiento. Esta asociación se mantuvo una vez removido el efecto de la heterocigosidad (como indicador de la ancestría) y sin interactuar con el resto de covariables incluidas en el análisis. Los cambios morfológicos asociados a este factor se concentran en el mentón, maxilar labio inferior, región perifrontal, región nasal y orejas. Algunos trabajos anteriores dieron cuenta de la posible relación entre la asimetría facial y los niveles de hormonas, pero no hay estudios que sustenten la relación causal o directa entre la asociación aquí planteada. El presente trabajo es una evidencia más de la asociación entre el consumo de hormonas y modificaciones de caracteres faciales en poblaciones urbanas mestizas latinoamericanas., In this work we test for the putative association between facial fluctuating asymmetry (FFA) and hormone treatments, maxillofacial surgery, orthodontics, injuries, and malformations. A protocol of five photographs and photogrammetric reconstruction was implemented to place thirty-four 3D landmarks in 3162 individuals aged between 18 and 85 years, belonging to the CANDELA initiative. A Procrustes ANOVA test was used to obtain individual facial fluctuating asymmetry scores. One way ANOVA, Welch, and Levene tests were conducted to explore the potential differences between mean and variance of the response variables. Our results indicate that women who received some hormonal treatment showed higher fluctuating facial asymmetry scores in relation to the unaffected group, this being persistent once the effects of heterozygosity (genetic ancestry) and further variables had been statistically controlled. The shape changes corresponding to this association are focused on the chin, jaw, lower lip, prefrontal region, nose, and ears. Previous reports suggested a potential relationship between facial asymmetry and hormone levels, but to the best of our knowledge there are no reports indicating the causation underlying the association detected here. This report is one more evidence of the association between hormone intake and facial asymmetric features in urban admixed Latin American populations., Asociación de Antropología Biológica de la República Argentina

Published
2017

31. Variation in dental morphology and inference of continental ancestry in admixed Latin Americans

Author

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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32. Novel Genetic Loci Affecting Facial Shape Variation in Humans

Author

Xiong, Ziyi, primary, Zhou, Haibo, additional, Dankova, Gabriela, additional, Howe, Laurence J., additional, Lee, Myoung Keun, additional, Hysi, Pirro G., additional, de Jong, Markus A., additional, Zhu, Gu, additional, Adhikari, Kaustubh, additional, Li, Dan, additional, Li, Yi, additional, Li, He, additional, Pan, Bo, additional, Feingold, Eleanor, additional, Marazita, Mary L., additional, Shaffer, John R., additional, McAloney, Kerrie, additional, Xu, Shuhua, additional, Jin, Li, additional, Wang, Sijia, additional, de Vrij, Femke M., additional, Lendemeijer, Bas, additional, Richmond, Stephen, additional, Zhurov, Alexei, additional, Zuo, Erwei, additional, Lewis, Sarah, additional, Sharp, Gemma, additional, Paternoster, Lavinia, additional, Thompson, Holly, additional, Gonzalez-Jose, Rolando, additional, Bortolini, Maria Catira, additional, Canizales-Quinteros, Samuel, additional, Gallo, Carla, additional, Poletti, Giovanni, additional, Bedoya, Gabriel, additional, Rothhammer, Francisco, additional, Uitterlinden, Andre G., additional, Ikram, M. Arfan, additional, Wolvius, Eppo B., additional, Kushner, Steven A., additional, Nijsten, Tamar, additional, Palstra, Robert-Jan, additional, Boehringer, Stefan, additional, Medland, Sarah E., additional, Tang, Kun, additional, Ruiz-Linares, Andrés, additional, Martin, Nicholas G., additional, Yang, Hui, additional, Spector, Timothy D., additional, Stergiakouli, Evie, additional, Weinberg, Seth M., additional, Liu, Fan, additional, and Kayser, Manfred, additional

Published
2018
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33. Relación entre tratamiento hormonal, cirugía-ortodoncia maxilofacial, traumatismos y malformaciones craneofaciales y la asimetría fluctuante

Author

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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34. Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair

Author

Liu, Fan, primary, Chen, Yan, additional, Zhu, Gu, additional, Hysi, Pirro G, additional, Wu, Sijie, additional, Adhikari, Kaustubh, additional, Breslin, Krystal, additional, Pośpiech, Ewelina, additional, Hamer, Merel A, additional, Peng, Fuduan, additional, Muralidharan, Charanya, additional, Acuna-Alonzo, Victor, additional, Canizales-Quinteros, Samuel, additional, Bedoya, Gabriel, additional, Gallo, Carla, additional, Poletti, Giovanni, additional, Rothhammer, Francisco, additional, Bortolini, Maria Catira, additional, Gonzalez-Jose, Rolando, additional, Zeng, Changqing, additional, Xu, Shuhua, additional, Jin, Li, additional, Uitterlinden, André G, additional, Ikram, M Arfan, additional, van Duijn, Cornelia M, additional, Nijsten, Tamar, additional, Walsh, Susan, additional, Branicki, Wojciech, additional, Wang, Sijia, additional, Ruiz-Linares, Andrés, additional, Spector, Timothy D, additional, Martin, Nicholas G, additional, Medland, Sarah E, additional, and Kayser, Manfred, additional

Published
2017
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35. Ancient remains and the first peopling of the Americas: Reassessing the Hoyo Negro skull

Author

de Azevedo, Soledad, Bortolini, Maria Catira, Bonatto, Sandro Luis, Hünemeier, Tábita, Santos, Fabricio R., and González José, Rolando

Subjects
Ciencias Biológicas, GEOMETRIC MORPHOMETRICS, Otras Ciencias Biológicas, RECURRENT GENE FLOW MODEL, PALEOAMERICANS, CRANIOFACIAL MORPHOLOGY, CIENCIAS NATURALES Y EXACTAS
Abstract

Objective A noticeably well‐preserved ∼12.500 years‐old skeleton from the Hoyo Negro cave, Yucatán, México, was recently reported, along with its archaeological, genetic and skeletal characteristics. Based exclusively on an anatomical description of the skull (HN5/48), Chatters and colleagues stated that this specimen can be assigned to a set of ancient remains that differ from modern Native Americans, the so called “Paleoamericans”. Here, we aim to further explore the morphological affinities of this specimen with a set of comparative cranial samples covering ancient and modern periods from Asia and the Americas. Methods Images published in the original article were analyzed using geometric morphometrics methods. Shape variables were used to perform Principal Component and Discriminant analysis against the reference samples. Results Even thought the Principal Component Analysis suggests that the Hoyo Negro skull falls in a subregion of the morphospace occupied by both “Paleoamericans” and some modern Native Americans, the Discriminant analyses suggest greater affinity with a modern Native American sample. Discussion These results reinforce the idea that the original population that first occupied the New World carried high levels of within‐group variation, which we have suggested previously on a synthetic model for the settlement of the Americas. Our results also highlight the importance of developing formal classificatory test before deriving settlement hypothesis purely based on macroscopic descriptions. Am J Phys Anthropol 158:514–521, 2015. Fil: de Azevedo, Soledad. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico; Argentina Fil: Bortolini, Maria Catira. Universidade Federal do Rio Grande do Sul; Brasil Fil: Bonatto, Sandro Luis. Pontificia Universidade Católica do Rio Grande do Sul; Brasil Fil: Hünemeier, Tábita. Universidade Federal do Rio Grande do Sul; Brasil Fil: Santos, Fabricio R.. Universidade Federal de Minas Gerais; Brasil Fil: González José, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico; Argentina

Published
2015
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36. Variation in dental morphology and inference of continental ancestry in admixed Latin Americans.

Author

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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37. Automatic ear detection and feature extraction using Geometric Morphometrics and convolutional neural networks

Author

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
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39. Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair.

Author

Fan Liu, Yan Chen, Gu Zhu, Hysi, Pirro G., Sijie Wu, Adhikari, Kaustubh, Breslin, Krystal, Pośpiech, Ewelina, Hamer, Merel A., Fuduan Peng, Muralidharan, Charanya, Acuna-Alonzo, Victor, Canizales-Quinteros, Samuel, Bedoya, Gabriel, Gallo, Carla, Poletti, Giovanni, Rothhammer, Francisco, Bortolini, Maria Catira, Gonzalez-Jose, Rolando, and Changqing Zeng

Published
2018
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40. Novel genetic loci affecting facial shape variation in humans.

Author

Xiong Z, Dankova G, Howe LJ, Lee MK, Hysi PG, de Jong MA, Zhu G, Adhikari K, Li D, Li Y, Pan B, Feingold E, Marazita ML, Shaffer JR, McAloney K, Xu SH, Jin L, Wang S, de Vrij FM, Lendemeijer B, Richmond S, Zhurov A, Lewis S, Sharp GC, Paternoster L, Thompson H, Gonzalez-Jose R, Bortolini MC, Canizales-Quinteros S, Gallo C, Poletti G, Bedoya G, Rothhammer F, Uitterlinden AG, Ikram MA, Wolvius E, Kushner SA, Nijsten TE, Palstra RT, Boehringer S, Medland SE, Tang K, Ruiz-Linares A, Martin NG, Spector TD, Stergiakouli E, Weinberg SM, Liu F, and Kayser M

Subjects
Adolescent, Adult, Anatomic Landmarks, Body Patterning genetics, Child, Child, Preschool, Female, Gene Expression Regulation, Developmental genetics, Gene Ontology, Genetic Variation, Genome-Wide Association Study, Genotype, Humans, Imaging, Three-Dimensional, Male, Middle Aged, Multifactorial Inheritance, Polymorphism, Single Nucleotide, Young Adult, Face anatomy & histology, Genetic Loci genetics, Maxillofacial Development genetics, Phenotype
Abstract

The human face represents a combined set of highly heritable phenotypes, but knowledge on its genetic architecture remains limited, despite the relevance for various fields. A series of genome-wide association studies on 78 facial shape phenotypes quantified from 3-dimensional facial images of 10,115 Europeans identified 24 genetic loci reaching study-wide suggestive association (p < 5 × 10 -8 ), among which 17 were previously unreported. A follow-up multi-ethnic study in additional 7917 individuals confirmed 10 loci including six unreported ones (p adjusted < 2.1 × 10 -3 ). A global map of derived polygenic face scores assembled facial features in major continental groups consistent with anthropological knowledge. Analyses of epigenomic datasets from cranial neural crest cells revealed abundant cis -regulatory activities at the face-associated genetic loci. Luciferase reporter assays in neural crest progenitor cells highlighted enhancer activities of several face-associated DNA variants. These results substantially advance our understanding of the genetic basis underlying human facial variation and provide candidates for future in-vivo functional studies., Competing Interests: ZX, GD, LH, ML, PH, Md, GZ, KA, DL, YL, BP, EF, MM, JS, KM, SX, LJ, SW, Fd, BL, SR, AZ, SL, GS, LP, HT, RG, MB, SC, CG, GP, GB, FR, AU, MI, EW, SK, TN, RP, SB, SM, KT, AR, NM, TS, ES, SW, FL, MK No competing interests declared, (© 2019, Xiong et al.)

Published
2019
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41. Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair.

Author

Liu F, Chen Y, Zhu G, Hysi PG, Wu S, Adhikari K, Breslin K, Pospiech E, Hamer MA, Peng F, Muralidharan C, Acuna-Alonzo V, Canizales-Quinteros S, Bedoya G, Gallo C, Poletti G, Rothhammer F, Bortolini MC, Gonzalez-Jose R, Zeng C, Xu S, Jin L, Uitterlinden AG, Ikram MA, van Duijn CM, Nijsten T, Walsh S, Branicki W, Wang S, Ruiz-Linares A, Spector TD, Martin NG, Medland SE, and Kayser M

Subjects
Genetic Predisposition to Disease genetics, Humans, Polymorphism, Single Nucleotide genetics, Genome-Wide Association Study methods, Hair metabolism, Hair physiology
Abstract

Shape variation of human head hair shows striking variation within and between human populations, while its genetic basis is far from being understood. We performed a series of genome-wide association studies (GWASs) and replication studies in a total of 28 964 subjects from 9 cohorts from multiple geographic origins. A meta-analysis of three European GWASs identified 8 novel loci (1p36.23 ERRFI1/SLC45A1, 1p36.22 PEX14, 1p36.13 PADI3, 2p13.3 TGFA, 11p14.1 LGR4, 12q13.13 HOXC13, 17q21.2 KRTAP, and 20q13.33 PTK6), and confirmed 4 previously known ones (1q21.3 TCHH/TCHHL1/LCE3E, 2q35 WNT10A, 4q21.21 FRAS1, and 10p14 LINC00708/GATA3), all showing genome-wide significant association with hair shape (P < 5e-8). All except one (1p36.22 PEX14) were replicated with nominal significance in at least one of the 6 additional cohorts of European, Native American and East Asian origins. Three additional previously known genes (EDAR, OFCC1, and PRSS53) were confirmed at the nominal significance level. A multivariable regression model revealed that 14 SNPs from different genes significantly and independently contribute to hair shape variation, reaching a cross-validated AUC value of 0.66 (95% CI: 0.62-0.70) and an AUC value of 0.64 in an independent validation cohort, providing an improved accuracy compared with a previous model. Prediction outcomes of 2504 individuals from a multiethnic sample were largely consistent with general knowledge on the global distribution of hair shape variation. Our study thus delivers target genes and DNA variants for future functional studies to further evaluate the molecular basis of hair shape in humans., (© The Author(s) 2017. Published by Oxford University Press.)

Published
2018
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