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244 results on '"Adhikari, Kaustubh"'

1. 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 WK, Pulit, Sara, Horimoto, Andrea, Krieger, Jose E, Guindo-Martínez, Marta, Preuss, Michael, Schumann, Claudia, Smit, Roelof AJ, 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, and Hanis, Craig

Abstract

[This corrects the article DOI: 10.1016/j.xhgg.2022.100099.].

Published
2023

2. 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 WK, Pulit, Sara, Horimoto, Andrea, Krieger, Jose E, Guindo-Martínez, Marta, Preuss, Michael, Schumann, Claudia, Smit, Roelof AJ, 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, 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, and Hanis, Craig

Subjects
Biological Sciences, Genetics, Nutrition, Minority Health, Human Genome, Obesity, 2.1 Biological and endogenous factors, Stroke, Hispanic/Latino, anthropometrics, diversity, fine-mapping, obesity, population stratification, trans-ancestral or trans-ethnic
Abstract

Hispanic/Latinos have been underrepresented in genome-wide association studies (GWAS) for anthropometric traits despite their notable anthropometric variability, ancestry proportions, and high burden of growth stunting and overweight/obesity. To address this knowledge gap, we analyzed densely imputed genetic data in a sample of Hispanic/Latino adults to identify and fine-map genetic variants associated with body mass index (BMI), height, and BMI-adjusted waist-to-hip ratio (WHRadjBMI). We conducted a GWAS of 18 studies/consortia as part of the Hispanic/Latino Anthropometry (HISLA) Consortium (stage 1, n = 59,771) and generalized our findings in 9 additional studies (stage 2, n = 10,538). We conducted a trans-ancestral GWAS with summary statistics from HISLA stage 1 and existing consortia of European and African ancestries. In our HISLA stage 1 + 2 analyses, we discovered one BMI locus, as well as two BMI signals and another height signal each within established anthropometric loci. In our trans-ancestral meta-analysis, we discovered three BMI loci, one height locus, and one WHRadjBMI locus. We also identified 3 secondary signals for BMI, 28 for height, and 2 for WHRadjBMI in established loci. We show that 336 known BMI, 1,177 known height, and 143 known WHRadjBMI (combined) SNPs demonstrated suggestive transferability (nominal significance and effect estimate directional consistency) in Hispanic/Latino adults. Of these, 36 BMI, 124 height, and 11 WHRadjBMI SNPs were significant after trait-specific Bonferroni correction. Trans-ancestral meta-analysis of the three ancestries showed a small-to-moderate impact of uncorrected population stratification on the resulting effect size estimates. Our findings demonstrate that future studies may also benefit from leveraging diverse ancestries and differences in linkage disequilibrium patterns to discover novel loci and additional signals with less residual population stratification.

Published
2022

3. Neanderthal introgression in SCN9A impacts mechanical pain sensitivity

Author

Faux, Pierre, Ding, Li, Ramirez-Aristeguieta, Luis Miguel, 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-Martínez, Paola, Quinto-Sánchez, Mirsha, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, Silva de Cerqueira, Caio C., Hünemeier, Tábita, Ramallo, Virginia, Gonzalez-José, Rolando, Schüler-Faccini, Lavinia, Bortolini, Maria-Cátira, Acuña-Alonzo, Victor, Canizales-Quinteros, Samuel, Poletti, Giovanni, Gallo, Carla, Rothhammer, Francisco, Rojas, Winston, Schmid, Annina B., Adhikari, Kaustubh, Bennett, David L., and Ruiz-Linares, Andrés

Published
2023
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4. Automatic landmarking identifies new loci associated with face morphology and implicates Neanderthal introgression in human nasal shape

Author

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

Published
2023
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5. Sodium-calcium exchanger-3 regulates pain “wind-up”: From human psychophysics to spinal mechanisms

Author

Trendafilova, Teodora, Adhikari, Kaustubh, Schmid, Annina B., Patel, Ryan, Polgár, Erika, Chisholm, Kim I., Middleton, Steven J., Boyle, Kieran, Dickie, Allen C., Semizoglou, Evangelia, Perez-Sanchez, Jimena, Bell, Andrew M., Ramirez-Aristeguieta, Luis Miguel, Khoury, Samar, Ivanov, Aleksandar, Wildner, Hendrik, Ferris, Eleanor, Chacón-Duque, Juan-Camilo, Sokolow, Sophie, Saad Boghdady, Mohamed A., Herchuelz, André, Faux, Pierre, Poletti, Giovanni, Gallo, Carla, Rothhammer, Francisco, Bedoya, Gabriel, Zeilhofer, Hanns Ulrich, Diatchenko, Luda, McMahon, Stephen B., Todd, Andrew J., Dickenson, Anthony H., Ruiz-Linares, Andres, and Bennett, David L.

Published
2022
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6. 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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7. 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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8. 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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9. Health Economic Consequences Associated With COVID-19–Related Delay in Melanoma Diagnosis in Europe

Author

Maul, Lara V., primary, Jamiolkowski, Dagmar, additional, Lapides, Rebecca A., additional, Mueller, Alina M., additional, Hauschild, Axel, additional, Garbe, Claus, additional, Lorigan, Paul, additional, Gershenwald, Jeffrey E., additional, Ascierto, Paolo Antonio, additional, Long, Georgina V., additional, Wang-Evers, Michael, additional, Scolyer, Richard A., additional, Saravi, Babak, additional, Augustin, Matthias, additional, Navarini, Alexander A., additional, Legge, Stefan, additional, Németh, István B., additional, Jánosi, Ágnes J., additional, Mocellin, Simone, additional, Feller, Anita, additional, Manstein, Dieter, additional, Zink, Alexander, additional, Maul, Julia-Tatjana, additional, Buja, Alessandra, additional, Adhikari, Kaustubh, additional, and Roider, Elisabeth, additional

Published
2024
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11. The impact of socioeconomic and phenotypic traits on self-perception of ethnicity in Latin America

Author

Paschetta, Carolina, de Azevedo, Soledad, Ramallo, Virginia, Cintas, Celia, Pérez, Orlando, Navarro, Pablo, Bandieri, Lucas, Sánchez, Mirsha Quinto, Adhikari, Kaustubh, Bortolini, M. Catira, Ferrara, Giovanni Poletti, Gallo, Carla, Bedoya, Gabriel, Rothhammer, Francisco, Alonzo, Victor Acuña, Ruiz-Linares, Andrés, and González-José, Rolando

Published
2021
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12. 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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13. 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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15. A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia

Author

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

Published
2019
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16. Erratum: Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits-The Hispanic/Latino Anthropometry Consortium.

Author

Fernández-Rhodes, Lindsay, 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 WK, Pulit, Sara, Horimoto, Andrea, Krieger, Jose E, Guindo-Martínez, Marta, Preuss, Michael, Schumann, Claudia, Smit, Roelof AJ, 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, Fernández-Rhodes, Lindsay, 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 WK, Pulit, Sara, Horimoto, Andrea, Krieger, Jose E, Guindo-Martínez, Marta, Preuss, Michael, Schumann, Claudia, Smit, Roelof AJ, 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, and Hanis, Craig

Abstract

[This corrects the article DOI: 10.1016/j.xhgg.2022.100099.].

Published
2023

17. 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

18. Genome-wide association studies identify DNA variants influencing eyebrow thickness variation in Europeans and across continental populations

Author

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

Published
2023
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19. 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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22. Latin Americans show wide-spread Converso ancestry and imprint of local Native ancestry on physical appearance

Author

Chacón-Duque, Juan-Camilo, Adhikari, Kaustubh, Fuentes-Guajardo, Macarena, Mendoza-Revilla, Javier, Acuña-Alonzo, Victor, Barquera, Rodrigo, Quinto-Sánchez, Mirsha, Gómez-Valdés, Jorge, Everardo Martínez, Paola, Villamil-Ramírez, Hugo, Hünemeier, Tábita, Ramallo, Virginia, Silva de Cerqueira, Caio C., Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Villena, Mercedes, Vásquez, René, Llop, Elena, Sandoval, José R., Salazar-Granara, Alberto A., Parolin, Maria-Laura, Sandoval, Karla, Peñaloza-Espinosa, Rosenda I., Rangel-Villalobos, Hector, Winkler, Cheryl A., Klitz, William, Bravi, Claudio, Molina, Julio, Corach, Daniel, Barrantes, Ramiro, Gomes, Verónica, Resende, Carlos, Gusmão, Leonor, Amorim, Antonio, Xue, Yali, Dugoujon, Jean-Michel, Moral, Pedro, González-José, Rolando, Schuler-Faccini, Lavinia, Salzano, Francisco M., Bortolini, Maria-Cátira, Canizales-Quinteros, Samuel, Poletti, Giovanni, Gallo, Carla, Bedoya, Gabriel, Rothhammer, Francisco, Balding, David, Hellenthal, Garrett, and Ruiz-Linares, Andrés

Published
2018
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24. Disentangling Signatures of Selection Before and After European Colonization in Latin Americans

Author

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.

Published
2022
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26. Disentangling Signatures of Selection Before and After European Colonization in Latin Americans

Author

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

Published
2022
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27. Fully automatic landmarking of 2D photographs identifies novel genetic loci influencing facial features

Author

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

Published
2022
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28. Sequential changes in cellular properties accompanying amniote somite formation.

Author

Piatkowska, Agnieszka M., Adhikari, Kaustubh, Moverley, Adam A., Turmaine, Mark, Glazier, James A., Plachta, Nicolas, Evans, Susan E., and Stern, Claudio D.

Subjects
*SOMITE, *CELL polarity, *THREE-dimensional imaging, *CELL morphology, *SOMITOGENESIS
Abstract

Somites are transient structures derived from the pre‐somitic mesoderm (PSM), involving mesenchyme‐to‐epithelial transition (MET) where the cells change their shape and polarize. Using Scanning electron microscopy (SEM), immunocytochemistry and confocal microscopy, we study the progression of these events along the tail‐to‐head axis of the embryo, which mirrors the progression of somitogenesis (younger cells located more caudally). SEM revealed that PSM epithelialization is a gradual process, which begins much earlier than previously thought, starting with the dorsalmost cells, then the medial ones, and then, simultaneously, the ventral and lateral cells, before a somite fully separates from the PSM. The core (internal) cells of the PSM and somites never epithelialize, which suggests that the core cells could be 'trapped' within the somitocoele after cells at the surfaces of the PSM undergo MET. Three‐dimensional imaging of the distribution of the cell polarity markers PKCζ, PAR3, ZO1, the Golgi marker GM130 and the apical marker N‐cadherin reveal that the pattern of polarization is distinctive for each marker and for each surface of the PSM, but the order of these events is not the same as the progression of cell elongation. These observations challenge some assumptions underlying existing models of somite formation. [ABSTRACT FROM AUTHOR]

Published
2023
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29. Disentangling signatures of selection before and after European colonization in Latin Americans

Author

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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30. Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits - the Hispanic/Latino Anthropometry Consortium

Author

Fernández-Rhodes, Lindsay, primary, Graff, Mariaelisa, additional, Buchanan, Victoria L., additional, Justice, Anne E., additional, Highland, Heather M., additional, Guo, Xiuqing, additional, Zhu, Wanying, additional, Chen, Hung-Hsin, additional, Young, Kristin L., additional, Adhikari, Kaustubh, additional, Allred, Nicholette (Palmer), additional, Below, Jennifer E., additional, Bradfield, Jonathan, additional, Pereira, Alexandre C., additional, Glover, LáShauntá, additional, Kim, Daeeun, additional, Lilly, Adam G., additional, Shrestha, Poojan, additional, Thomas, Alvin G., additional, Zhang, Xinruo, additional, Chen, Minhui, additional, Chiang, Charleston W. K., additional, Pulit, Sara, additional, Horimoto, Andrea, additional, Krieger, Jose E., additional, Guindo-Martinez, Marta, additional, Preuss, Michael, additional, Schumann, Claudia, additional, Smit, Roelof A.J., additional, Torres-Mejía, Gabriela, additional, Acuña-Alonzo, Victor, additional, Bedoya, Gabriel, additional, Bortolini, Maria-Cátira, additional, Canizales-Quinteros, Samuel, additional, Gallo, Carla, additional, González-José, Rolando, additional, Poletti, Giovanni, additional, Rothhammer, Francisco, additional, Hakonarson, Hakon, additional, Igo, Robert, additional, Adler, Sharon G, additional, Iyengar, Sudha K., additional, Nicholas, Susanne B., additional, Gogarten, Stephanie M., additional, Isasi, Carmen R., additional, Papnicolaou, George, additional, Stilp, Adrienne M., additional, Qi, Qibin, additional, Kho, Minjung, additional, Smith, Jennifer A., additional, Langfeld, Carl, additional, Wagenknecht, Lynne, additional, Mckean-Cowdin, Roberta, additional, Gao, Xiaoyi Raymond, additional, Nousome, Darryl, additional, Conti, David V., additional, Feng, Ye, additional, Allison, Matthew A., additional, Arzumanyan, Zorayr, additional, Buchanan, Thomas A., additional, Chen, Yii-Der Ida, additional, Genter, Pauline M., additional, Goodarzi, Mark O., additional, Hai, Yang, additional, Hsueh, Willa, additional, Ipp, Eli, additional, Kandeel, Fouad R., additional, Lam, Kelvin, additional, Li, Xiaohui, additional, Nadler, Jerry L., additional, Raffel, Leslie J., additional, Roll, Kaye, additional, Sandow, Kevin, additional, Tan, Jingyi, additional, Taylor, Kent D., additional, Xiang, Anny H., additional, Yao, Jie, additional, Audirac-Chalifour, Astride, additional, de Jesus Peralta Romero, Jose, additional, Hartwig, Fernando, additional, Horta, Bernando, additional, Blangero, John, additional, Curran, Joanne E., additional, Duggirala, Ravindranath, additional, Lehman, Donna E., additional, Puppala, Sobha, additional, Fejerman, Laura, additional, John, Esther, additional, Aguilar-Salinas, Carlos, additional, Burtt, Noël P., additional, Florez, Jose C., additional, García-Ortíz, Humberto, additional, González-Villalpando, Clicerio, additional, Mercader, Josep, additional, Orozco, Lorena, additional, Tusié, Teresa, additional, Blanco, Estela, additional, Gahagan, Sheila, additional, Cox, Nancy J., additional, Hanis, Craig, additional, Butte, Nancy F., additional, Cole, Shelley A., additional, Commuzzie, Anthony G., additional, Voruganti, V. Saroja, additional, Rohde, Rebecca, additional, Wang, Yujie, additional, Sofer, Tamar, additional, Ziv, Elad, additional, Grant, Struan F.A., additional, Ruiz-Linares, Andres, additional, Rotter, Jerome I., additional, Haiman, Christopher A., additional, Parra, Esteban J., additional, Cruz, Miguel, additional, Loos, Ruth J.F., additional, and North, Kari E., additional

Published
2021
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31. A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation

Author

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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33. Sodium-Calcium Exchanger-3 Regulates Pain ‘Wind-Up’: From Human Psychophysics to Spinal Mechanisms

Author

Trendafilova, Teodora, primary, Adhikari, Kaustubh, additional, Schmid, Annina B., additional, Patel, Ryan, additional, Polgár, Erika, additional, Boyle, Kieran A., additional, Dickie, Allen C., additional, Bell, Andrew M., additional, Ramirez-Aristeguieta, Luis Miguel, additional, Khoury, Samar, additional, Ivanov, Aleksandar, additional, Tseng, Mandy, additional, Wildner, Hendrik, additional, Ferris, Eleanor, additional, Chacón-Duque, Juan-Camilo, additional, Sokolow, Sophie, additional, Boghdady, Mohamed A. Saad, additional, Herchuelz, André, additional, Faux, Pierre, additional, Poletti, Giovanni, additional, Gallo, Carla, additional, Rothhammer, Francisco, additional, Bedoya, Gabriel, additional, Zeilhofer, Hanns Ulrich, additional, Diatchenko, Luda, additional, Todd, Andrew J., additional, Dickenson, Anthony H., additional, Ruiz-Linares, Andres, additional, and Bennett, David L., additional

Published
2021
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34. Prediction of Eye, Hair and Skin Color in Admixed Populations of Latin America

Author

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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35. Genetic components of human pain sensitivity: a protocol for a genome-wide association study of experimental pain in healthy volunteers

Author

Schmid, Annina B., Adhikari, Kaustubh, Ramirez-Aristeguieta, Luis Miguel, Chacón-Duque, Juan-Camilo, Poletti, Giovanni, Gallo, Carla, Rothhammer, Francisco, Bedoya, Gabriel, Ruiz-Linares, Andres, Bennett, David L, Dept of Genetics, Evolution and Environment [London] (UCL-GEE), University College of London [London] (UCL), Anthropologie bio-culturelle, Droit, Ethique et Santé (ADES), Aix Marseille Université (AMU)-EFS ALPES MEDITERRANEE-Centre National de la Recherche Scientifique (CNRS), State Key Laboratory of Genetics Engineering & MOE Key Laboratory of Contemporary Anthropology, and Fudan University [Shanghai]-School of Life Sciences

Subjects
genome-wide association study, thermal pain, adult, [SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology, Hispanic, genetic analysis, Article, purl.org/pe-repo/ocde/ford#3.02.00 [https], human experiment, mechanical pain, experimental pain, genetics, pain, pain sensitivity, human, nociception, normal human, hyperalgesia
Abstract

IntroductionPain constitutes a major component of the global burden of diseases. Recent studies suggest a strong genetic contribution to pain susceptibility and severity. Whereas most of the available evidence relies on candidate gene association or linkage studies, research on the genetic basis of pain sensitivity using genome-wide association studies (GWAS) is still in its infancy. This protocol describes a proposed GWAS on genetic contributions to baseline pain sensitivity and nociceptive sensitisation in a sample of unrelated healthy individuals of mixed Latin American ancestry.Methods and analysisA GWAS on genetic contributions to pain sensitivity in the naïve state and following nociceptive sensitisation will be conducted in unrelated healthy individuals of mixed ancestry. Mechanical and thermal pain sensitivity will be evaluated with a battery of quantitative sensory tests evaluating pain thresholds. In addition, variation in mechanical and thermal sensitisation following topical application of mustard oil to the skin will be evaluated.Ethics and disseminationThis study received ethical approval from the University College London research ethics committee (3352/001) and from the bioethics committee of the Odontology Faculty at the University of Antioquia (CONCEPTO 01–2013). Findings will be disseminated to commissioners, clinicians and service users via papers and presentations at international conferences.

Published
2019
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36. Obesity, genomic ancestry, and socioeconomic variables in Latin American mestizos

Author

Ruderman, Anahi, Perez, Luis O., Adhikari, Kaustubh, Navarro, Pablo, Ramallo, Virginia, Gallo López-Aliaga, Carla Maria, Poletti, Giovanni, Bedoya, Gabriel, Bortolini, Maria C., Acuna-Alonzo, Victor, Canizales-Quinteros, Samuel, Rothhammer, Francisco, Ruiz-Linares, Andres, and Gonzalez-Jose, Rolando

Subjects
socioeconomic status, obesity, chip genotypes, purl.org/pe-repo/ocde/ford#3.01.01 [https], genomic ancestry, body mass index, waist-to-hip ratio, waist-to-height ratio
Abstract

OBJECTIVES: This article aims to assess the contribution of genomic ancestry and socioeconomic status to obesity in a sample of admixed Latin Americans. METHODS: The study comprised 6776 adult volunteers from Brazil, Chile, Colombia, Mexico, and Peru. Each volunteer completed a questionnaire about socioeconomic variables. Anthropometric variables such as weight, height, waist, and hip circumference were measured to calculate body indices: body mass index, waist-to-hip ratio and waist-to-height ratio (WHtR). Genetic data were extracted from blood samples, and ancestry was estimated using chip genotypes. Multiple linear regression was used to evaluate the relationship between the indices and ancestry, educational level, and economic well-being. The body indices were dichotomized to obesity indices by using appropriate thresholds. Odds ratios were calculated for each obesity index. RESULTS: The sample showed high percentages of obesity by all measurements. However, indices did not overlap consistently when classifying obesity. WHtR resulted in the highest prevalence of obesity. Overall, women with low education level and men with high economic wellness were more likely to be obese. American ancestry was statistically associated with obesity indices, although to a lesser extent than socioeconomic variables. CONCLUSIONS: The proportion of obesity was heavily dependent on the index and the population. Genomic ancestry has a significant influence on the anthropometric measurements, especially on central adiposity. As a whole, we detected a large interpopulation variation that suggests that better approaches to overweight and obesity phenotypes are needed in order to obtain more precise reference values.

Published
2019

37. Obesity, genomic ancestry, and socioeconomic variables in Latin American mestizos

Author

Ruderman, Anahí, Pérez, Luis, Adhikari, Kaustubh, Navarro, Pablo, Ramallo, Virginia, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Bortolini, Maria, Acuña-Alonzo, Victor, Canizales-Quinteros, Samuel, Rothhammer, Francisco, Ruiz-Linares, Andrés, González-José, Rolando, Acuña‐Alonzo, Victor, Canizales‐Quinteros, Samuel, Ruiz‐Linares, Andres, González‐José, Rolando, Dept of Genetics, Evolution and Environment [London] (UCL-GEE), University College of London [London] (UCL), Anthropologie bio-culturelle, Droit, Ethique et Santé (ADES), Aix Marseille Université (AMU)-EFS ALPES MEDITERRANEE-Centre National de la Recherche Scientifique (CNRS), State Key Laboratory of Genetics Engineering & MOE Key Laboratory of Contemporary Anthropology, Fudan University [Shanghai]-School of Life Sciences, Laboratorio de Genética Molecular, Universidad de Antioquia = University of Antioquia [Medellín, Colombia], Departamento de Genética, Universidade Federal do Rio Grande do Sul [Porto Alegre] (UFRGS)-Instituto de Biociencias, Molecular Genetics Laboratory, Escuela Nacional de Antropologia y Historia, Unit of Molecular Biology and Genomic Medicine, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán - National Institute of Medical Science and Nutrition Salvador Zubiran [Mexico], Facultad de Medicina & Instituto de Alta Investigacion, Universidad de Tarapaca-Universidade de Chile, and Consejo Nacional de Investigaciones Científicas y Técnicas [Buenos Aires] (CONICET)

Subjects
Male, [SDV]Life Sciences [q-bio], [SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology, Overweight, purl.org/becyt/ford/1 [https], 0302 clinical medicine, Waist–hip ratio, hemic and lymphatic diseases, Peru, Prevalence, 0601 history and archaeology, Chile, ComputingMilieux_MISCELLANEOUS, 2. Zero hunger, Waist-to-height ratio, education.field_of_study, 1. No poverty, Genomic ancestry, 06 humanities and the arts, Admixed populations, Middle Aged, population characteristics, Female, Anatomy, medicine.symptom, CIENCIAS NATURALES Y EXACTAS, Brazil, Adult, Waist, Otras Ciencias Biológicas, Population, education, 030209 endocrinology & metabolism, Colombia, Ciencias Biológicas, 03 medical and health sciences, Young Adult, Genetics, medicine, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Obesity, purl.org/becyt/ford/1.6 [https], neoplasms, Mexico, Ecology, Evolution, Behavior and Systematics, 060101 anthropology, business.industry, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Anthropometry, medicine.disease, eye diseases, Latin America, Social Class, Socioeconomic Factors, Anthropology, business, Body mass index, Demography
Abstract

Objectives: This article aims to assess the contribution of genomic ancestry and socioeconomic status to obesity in a sample of admixed Latin Americans. Methods: The study comprised 6776 adult volunteers from Brazil, Chile, Colombia, Mexico, and Peru. Each volunteer completed a questionnaire about socioeconomic variables. Anthropometric variables such as weight, height, waist, and hip circumference were measured to calculate body indices: body mass index, waist-to-hip ratio and waist-to-height ratio (WHtR). Genetic data were extracted from blood samples, and ancestry was estimated using chip genotypes. Multiple linear regression was used to evaluate the relationship between the indices and ancestry, educational level, and economic well-being. The body indices were dichotomized to obesity indices by using appropriate thresholds. Odds ratios were calculated for each obesity index. Results: The sample showed high percentages of obesity by all measurements. However, indices did not overlap consistently when classifying obesity. WHtR resulted in the highest prevalence of obesity. Overall, women with low education level and men with high economic wellness were more likely to be obese. American ancestry was statistically associated with obesity indices, although to a lesser extent than socioeconomic variables. Conclusions: The proportion of obesity was heavily dependent on the index and the population. Genomic ancestry has a significant influence on the anthropometric measurements, especially on central adiposity. As a whole, we detected a large interpopulation variation that suggests that better approaches to overweight and obesity phenotypes are needed in order to obtain more precise reference values. Fil: Ruderman, Anahí. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina Fil: Perez, Luis Orlando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina Fil: Adhikari, Kaustubh. Colegio Universitario de Londres; Reino Unido. Open University; Reino Unido Fil: Navarro, Pablo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina Fil: Ramallo, Virginia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina Fil: Gallo, Carla. Universidad Peruana Cayetano Heredia; Perú Fil: Poletti, Giovanni. Universidad Peruana Cayetano Heredia; Perú Fil: Bedoya Berrío, Gabriel. Universidad de Antioquia; Colombia Fil: Bortolini, María Cátira. Universidade Federal do Rio Grande do Sul; Brasil Fil: Acuña Alonzo, Victor. Instituto Nacional de Antropología E Historia; México Fil: Canizales Quinteros, Samuel. Instituto Nacional de Medicina Genómica; México Fil: Rothhammer, Francisco. Universidad de Chile; Chile Fil: Ruiz-Linares, Andres. Colegio Universitario de Londres; Reino Unido. Fudan University; China Fil: González José, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina

Published
2018
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38. A geometric morphometric approach to the study of variation of shovel‐shaped incisors

Author

Carayon, Delphine, Adhikari, Kaustubh, Monsarrat, Paul, Dumoncel, Jean, Braga, José, Duployer, Benjamin, Delgado Burbano, Miguel Eduardo, Fuentes Guajardo, Macarena, Beer, Frikkie de, Hoffman, Jakobus, Oettle, Anna Catherina, Donat, Richard, Pan, Lei, Ruiz Linares, Andrés, Tenailleau, Christophe, Vaysse, Frédéric, Esclassan, Rémi, and Zanolli, Clément

Subjects
stomatognathic diseases, Asudas, stomatognathic system, Procrustes and non-procrustes superimpositions, Ciencias Naturales, Shovel-shaped incisors, Virtual anthropology
Abstract

Objectives : The scoring and analysis of dental nonmetric traits are predominantly accomplished by using the Arizona State University Dental Anthropology System (ASUDAS), a standard protocol based on strict definitions and three‐dimensional dental plaques. However, visual scoring, even when controlled by strict definitions of features, visual reference, and the experience of the observer, includes an unavoidable part of subjectivity. In this methodological contribution, we propose a new quantitative geometric morphometric approach to quickly and efficiently assess the variation of shoveling in modern human maxillary central incisors (UI1).; Materials and methods : We analyzed 87 modern human UI1s by means of virtual imaging and the ASU‐UI1 dental plaque grades using geometric morphometrics by placing semilandmarks on the labial crown aspect. The modern human sample was composed of individuals from Europe, Africa, and Asia and included representatives of all seven grades defined by the ASUDAS method.; Results : Our results highlighted some limitations in the use of the current UI1 ASUDAS plaque, indicating that it did not necessarily represent an objective gradient of expression of a nonmetric tooth feature. Rating of shoveling tended to be more prone to intra‐ and interobserver bias for the highest grades. In addition, our analyses suggest that the observers were strongly influenced by the depth of the lingual crown aspect when assessing the shoveling.; Discussion : In this context, our results provide a reliable and reproducible framework reinforced by statistical results supporting the fact that open scale numerical measurements can complement the ASUDAS method., Facultad de Ciencias Naturales y Museo, Consejo Nacional de Investigaciones Científicas y Técnicas

Published
2018

39. Genome-wide association studies and CRISPR/Cas9-mediated gene editing identify regulatory variants influencing eyebrow thickness in humans

Author

Wu, Sijie, Zhang, Manfei, Yang, Xinzhou, Peng, Fuduan, Zhang, Juan, Tan, Jingze, Yang, Yajun, Wang, Lina, Hu, Yanan, Peng, Qianqian, Li, Jinxi, Li, Yu, Guan, Yaqun, Chen, Chen, Hamer, Merel, Nijsten, Tamar, Zeng, Changqing, Adhikari, Kaustubh, Gallo, Carla, Poletti, Giovanni, Schuler-Faccini, Lavinia, Bortolini, Maria-Cátira, Canizales-Quinteros, Samuel, Rothhammer, Francisco, Bedoya, Gabriel, González-José, Rolando, Hu, Hui, Krutmann, Jean, Li, Fan, Kayser, Manfred, Li, Lina, Tan, Kun, Xu, Shuhua, Zhang, Liang, Li, Li, Wang, Sijia, Cooper, Gregory, Central South University [Changsha], Beijing Institute of Technology (BIT), Chinese Academy of Agricultural Sciences (CAAS), Ministry of Agriculture of the People's Republic of China (MOA), Modélisation, Information et Systèmes - UR UPJV 4290 (MIS), Université de Picardie Jules Verne (UPJV), Institut National de l'Environnement Industriel et des Risques (INERIS), Laboratorio de Genética Molecular, Universidad de Antioquia = University of Antioquia [Medellín, Colombia], Unit of Molecular Biology and Genomic Medicine, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán - National Institute of Medical Science and Nutrition Salvador Zubiran [Mexico], Facultad de Medicina & Instituto de Alta Investigacion, Universidad de Tarapaca-Universidade de Chile, Consejo Nacional de Investigaciones Científicas y Técnicas [Buenos Aires] (CONICET), Laboratoire Images, Signaux et Systèmes Intelligents (LISSI), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Forensic Molecular Biology, ErasmusMC, Institut de Chimie et Biochimie Moléculaires et Supramoléculaires (ICBMS), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut de Chimie du CNRS (INC)-École Supérieure Chimie Physique Électronique de Lyon-Centre National de la Recherche Scientifique (CNRS), University of Peking, Peking University [Beijing], Graduate School for Integrative Sciences and Engineering, Ingénierie et biologie cellulaire et tissulaire (IBCT (ex IFR133)), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)-Etablissement français du sang [Bourgogne-Franche-Comté] (EFS [Bourgogne-Franche-Comté])-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Harvard FAS Center for Systems Biology, Université de Lyon-Université de Lyon-École Supérieure de Chimie Physique Électronique de Lyon (CPE)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), and Ruiz-Linares, Andres

Subjects
[SDV] Life Sciences [q-bio], [SDV]Life Sciences [q-bio], ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2018

40. 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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41. Obesity, genomic ancestry, and socioeconomic variables in Latin American mestizos

Author

Ruderman, Anahí, primary, Pérez, Luis O., additional, Adhikari, Kaustubh, additional, Navarro, Pablo, additional, Ramallo, Virginia, additional, Gallo, Carla, additional, Poletti, Giovanni, additional, Bedoya, Gabriel, additional, Bortolini, Maria C., additional, Acuña‐Alonzo, Victor, additional, Canizales‐Quinteros, Samuel, additional, Rothhammer, Francisco, additional, Ruiz‐Linares, Andres, additional, and González‐José, Rolando, additional

Published
2019
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43. Relación entre asimetría fluctuante y el tratamiento hormonal, cirugía-ortodoncia maxilofacial, traumatismos y malformaciones craneofaciales

Author

Quinto Sánchez, Mirsha Emanuel, Cintas, Celia, Ramallo, Virginia, Silva de Cerqueira, Caio César, Gomez Valdés, Jorge, Acuña Alonzo, Victor, Adhikari, Kaustubh, Everardo, Paola, Avila, Francisco de, Jaramillo, Carla, Arias, Williams, Fuentes, Macarena, Hünemeier, Tábita, Gallo, Carla, Poletti, Giovani, Rosique, Javier, Schuler-Faccini, Lavinia, Bortolini, Maria Cátira, Canizales Quinteros, Samuel, Rothhammer, Francisco, Bedoya, Gabriel, Ruiz Linares, Andres, and González-José, Rolando

Subjects
Antropología, inestabilidad del desarrollo, tratamiento hormonal, asimetría fluctuante facial, morfometría geométrica
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

44. 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

45. 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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46. A geometric morphometric approach to the study of variation of shovel-shaped incisors

Author

Carayon, Delphine, primary, Adhikari, Kaustubh, additional, Monsarrat, Paul, additional, Dumoncel, Jean, additional, Braga, José, additional, Duployer, Benjamin, additional, Delgado, Miguel, additional, Fuentes-Guajardo, Macarena, additional, de Beer, Frikkie, additional, Hoffman, Jakobus W., additional, Oettlé, Anna C., additional, Donat, Richard, additional, Pan, Lei, additional, Ruiz-Linares, Andres, additional, Tenailleau, Christophe, additional, Vaysse, Frédéric, additional, Esclassan, Rémi, additional, and Zanolli, Clément, additional

Published
2018
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48. A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation

Author

Adhikari, Kaustubh, Fuentes-Guajardo, Macarena, Quinto-Sánchez, Mirsha, Mendoza-Revilla, Javier, Camilo Chacón-Duque, Juan, Acuña-Alonzo, Victor, Jaramillo, Claudia, Arias, William, Lozano, Rodrigo Barquera, Pérez, Gastón Macín, 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, Cheeseman, Michael, Rosique, Javier, Bedoya, Gabriel, Rothhammer, Francisco, Headon, Denis, González-José, Rolando, Balding, David, and Ruiz-Linares, Andrés

Subjects
Adult, Population genetics, Science, purl.org/pe-repo/ocde/ford#1.06.03 [https], Otras Ciencias Biológicas, purl.org/pe-repo/ocde/ford#1.03.00 [https], Cadherin Related Proteins, morphogenesis, Core Binding Factor Alpha 1 Subunit, Nerve Tissue Proteins, Paired Box Transcription Factors/genetics, Polymorphism, Single Nucleotide, Article, purl.org/becyt/ford/1 [https], Core Binding Factor Alpha 1 Subunit/genetics, Ciencias Biológicas, Mice, Young Adult, Zinc Finger Protein Gli3, Paired Box Transcription Factors, Animals, Humans, Nerve Tissue Proteins/genetics, purl.org/becyt/ford/1.6 [https], Maxillofacial Development, Edar Receptor, Maxillofacial Development/genetics, Anatomic Variation, Zinc Finger Protein Gli3/genetics, Edar Receptor/genetics, stomatognathic diseases, Latin America, Cadherin Related Proteins/genetics, Face, genome-wide association studies, purl.org/pe-repo/ocde/ford#1.04.00 [https], Face/anatomy & histology, CIENCIAS NATURALES Y EXACTAS, Genome-Wide Association Study
Abstract

We report a genome-wide association scan for facial features in ∼6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P values, Humans show great diversity in facial appearance and this variation is highly heritable. Here, Andres Ruiz-Linares and colleagues examined facial features in admixed Latin Americans and identify genome-wide associations for 14 facial traits, including four gene loci (RUNX2, GLI3, DCHS2 and PAX1) influencing nose morphology.

Published
2016
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49. Latin Americans show wide-spread Converso ancestry and the imprint of local Native ancestry on physical appearance

Author

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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50. Developmental pathways inferred from modularity, morphological integration and fluctuating asymmetry patterns in the human face

Author

Quinto-Sánchez, Mirsha, primary, Muñoz-Muñoz, Francesc, additional, Gomez-Valdes, Jorge, additional, Cintas, Celia, additional, Navarro, Pablo, additional, Cerqueira, Caio Cesar Silva de, additional, Paschetta, Carolina, additional, de Azevedo, Soledad, additional, Ramallo, Virginia, additional, Acuña-Alonzo, Victor, additional, Adhikari, Kaustubh, additional, Fuentes-Guajardo, Macarena, additional, Hünemeier, Tábita, additional, Everardo, Paola, additional, de Avila, Francisco, additional, Jaramillo, Claudia, additional, Arias, Williams, additional, Gallo, Carla, additional, Poletti, Giovani, additional, Bedoya, Gabriel, additional, Bortolini, Maria Cátira, additional, Canizales-Quinteros, Samuel, additional, Rothhammer, Francisco, additional, Rosique, Javier, additional, Ruiz-Linares, Andres, additional, and Gonzalez-Jose, Rolando, additional

Published
2018
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