Listar por autor "Adhikari, Kaustubh"

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Adaptation to milking agropastoralism in chilean goat herders and nutritional benefit of lactase persistence

Montalva, Nicolás; Adhikari, Kaustubh; Liebert, Anke; Mendoza-Revilla, Javier; Flores, Sergio V.; Mace, Ruth; Swallow, Dallas M. (Wiley, 2018)

The genetic trait of lactase persistence (LP) evolved as an adaptation to milking pastoralism in the Old World and is a well-known example of positive natural selection in humans. However, the specific mechanisms conferring ...
Admixture in Latin America: geographic structure, phenotypic diversity and self-perception of ancestry based on 7,342 individuals

Ruiz-Linares, Andrés; Adhikari, Kaustubh; Acuña-Alonzo, Victor; Quinto-Sanchez, Mirsha; Jaramillo, Claudia; Arias, William; Fuentes, Macarena; Pizarro, María; Everardo, Paola; de Avila, Francisco; Gómez-Valdés, Jorge; León-Mimila, Paola; Hunemeier, Tábita; Ramallo, Virginia; Silva de Cerqueira, Caio C.; Burley, Mari-Wyn; Konca, Esra; de Oliveira, Marcelo Zagonel; Veronez, Mauricio Roberto; Rubio-Codina, Marta; Attanasio, Orazio; Gibbon, Sahra; Ray, Nicolas; Gallo López-Aliaga, Carla Maria; Poletti, Giovanni; Rosique, Javier; Schuler-Faccini, Lavinia; Salzano, Francisco M.; Bortolini, Maria-Cátira; Canizales-Quinteros, Samuel; Rothhammer, Francisco; Bedoya, Gabriel; Balding, David; Gonzalez-José, Rolando (Public Library of Science, 2014)

The current genetic makeup of Latin America has been shaped by a history of extensive admixture between Africans, Europeans and Native Americans, a process taking place within the context of extensive geographic and social ...
Automatic landmarking identifies new loci associated with face morphology and implicates Neanderthal introgression in human nasal shape

Li, Qing; Chen, Jieyi; Faux, Pierre; Delgado, Miguel Eduardo; Bonfante, Betty; Fuentes-Guajardo, Macarena; Mendoza Revilla, Javier Alberto; Chacón-Duque, J. Camilo; Hurtado Chiong, Gloria Malena; Villegas Bernaola, Valeria; Granja Burbano, Vanessa Patricia; 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 López-Aliaga, Carla Maria; Poletti Ferrara, Giovanni Angelo; Rojas, Winston; Rothhammer, Francisco; Navarro, Nicolas; Wang, Sijia; Adhikari, Kaustubh; Ruiz-Linares, Andrés (Nature Research, 2023)

We report a genome-wide association study of facial features in >6000 Latin Americans based on automatic landmarking of 2D portraits and testing for association with inter-landmark distances. We detected significant ...
Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci

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 López-Aliaga, Carla Maria; Poletti Ferrara, Giovanni Angelo; 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 (PLoS, 2023)

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

Yang, Guangrui; Chen, Yingjie; Li, Qing; Benítez, Daniel; Ramírez, Luis Miguel; Fuentes-Guajardo, Macarena; Hanihara, Tsunehiko; Scott, G. Richard; Acuña Alonzo, Victor; Gonzalez Jose, Rolando; Bortolini, Maria Catira; Gallo López-Aliaga, Carla Maria; Poletti Ferrara, Giovanni Angelo; Rothhammer, Francisco; Rojas, Winston; Zanolli, Clément; Adhikari, Kaustubh; Ruiz-Linares, Andres; Delgado, Miguel (PLoS, 2023)

Dental size variation in modern humans has been assessed from regional to worldwide scales, especially under microevolutionary and forensic contexts. Despite this, populations of mixed continental ancestry such as contemporary ...
Developmental pathways inferred from modularity, morphological integration and fluctuating asymmetry patterns in the human face

Quinto-Sánchez, Mirsha; Muñoz-Muñoz, Francesc; Gomez-Valdes, Jorge; Cintas, Celia; Navarro, Pablo; Cerqueira, Caio Cesar Silva de; Paschetta, Carolina; de Azevedo, Soledad; Ramallo, Virginia; Acuña-Alonzo, Victor; Adhikari, Kaustubh; Fuentes-Guajardo, Macarena; Hünemeier, Tábita; Everardo, Paola; de Avila, Francisco; Jaramillo, Claudia; Arias, Williams; Gallo López-Aliaga, Carla Maria; Poletti, Giovani; Bedoya, Gabriel; Bortolini, Maria Cátira; Canizales-Quinteros, Samuel; Rothhammer, Francisco; Rosique, Javier; Ruiz-Linares, Andres; Gonzalez-Jose, Rolando (Springer Nature, 2018)

Facial asymmetries are usually measured and interpreted as proxies to developmental noise. However, analyses focused on its developmental and genetic architecture are scarce. To advance on this topic, studies based on a ...
Genetic components of human pain sensitivity: A protocol for a genome-wide association study of experimental pain in healthy volunteers

Schmid, Annina B.; Adhikari, Kaustubh; Ramirez-Aristeguieta, Luis Miguel; Chacon-Duque, Juan-Camilo; Poletti, Giovanni; Gallo López-Aliaga, Carla Maria; Rothhammer, Francisco; Bedoya, Gabriel; Ruiz-Linares, Andres; Bennett, David L. (BMJ Publishing Group, 2019)

INTRODUCTION: Pain 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 ...
The Genetic Diversity of the Americas

Adhikari, Kaustubh; Chacón-Duque, Juan Camilo; Mendoza-Revilla, Javier; Fuentes-Guajardo, Macarena; Ruiz-Linares, Andrés (Annual Reviews, 2017)

The history of the Americas involved the encounter of millions of Native Americans, Europeans, and Africans. A variable admixture of these three continental groups has taken place throughout the continent, influenced by ...
A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation

Adhikari, Kaustubh; Fuentes-Guajardo, Macarena; Quinto-Sanchez, Mirsha; Mendoza-Revilla, Javier; Camilo-Chacon-Duque, Juan; Acuna-Alonzo, Victor; Jaramillo, Claudia; Arias, William; Barquera Lozano, Rodrigo; Perez, Gaston-Macin; Gomez-Valdes, Jorge; Villamil-Ramirez, Hugo; Hunemeier, Tabita; Ramallo, Virginia; Silva-de-Cerqueira, Caio-C.; Hurtado, Malena; Villegas, Valeria; Granja, Vanessa; Gallo López-Aliaga, Carla Maria; Poletti, Giovanni; Schuler-Faccini, Lavinia; Salzano, Francisco-M.; Bortolini, Maria-Catira; Canizales-Quinteros, Samuel; Cheeseman, Michael; Rosique, Javier; Bedoya, Gabriel; Rothhammer, Francisco; Headon, Denis; Gonzalez-Jose, Rolando; Balding, David; Ruiz-Linares, Andres (Springer Nature, 2016)

We report a genome-wide association scan for facial features in approximately 6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P values<5 x 10(-8)) at single-nucleotide ...
A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features

Adhikari, Kaustubh; Fontanil, Tania; Cal, Santiago; Mendoza-Revilla, Javier; Fuentes-Guajardo, Macarena; Chacon-Duque, Juan-Camilo; Al-Saadi, Farah; Johansson, Jeanette-A.; Quinto-Sanchez, Mirsha; Acuna-Alonzo, Victor; Jaramillo, Claudia; Arias, William; Barquera-Lozano, Rodrigo; Macin-Perez, Gaston; Gomez-Valdes, Jorge; Villamil-Ramirez, Hugo; Hunemeier, Tabita; Ramallo, Virginia; Silva-de-Cerqueira, Caio-C.; Hurtado, Malena; Villegas, Valeria; Granja, Vanessa; Gallo López-Aliaga, Carla Maria; Poletti, Giovanni; Schuler-Faccini, Lavinia; Salzano, Francisco-M.; Bortolini, Maria-Catira; Canizales-Quinteros, Samuel; Rothhammer, Francisco; Bedoya, Gabriel; Gonzalez-Jose, Rolando; Headon, Denis; Lopez-Otin, Carlos; Tobin, Desmond-J.; Balding, David; Ruiz-Linares, Andres (Springer Nature, 2016)

We report a genome-wide association scan in over 6,000 Latin Americans for features of scalp hair (shape, colour, greying, balding) and facial hair (beard thickness, monobrow, eyebrow thickness). We found 18 signals of ...
Genome-wide association studies and CRISPR/Cas9-mediated gene editing identify regulatory variants influencing eyebrow thickness in humans

Wu, Sijie; Zhang, Manfei; Yang, Xinzhou; Peng, Fuduan; Zhang, Juan; Tan, Jingze; Yang, Yajun; Wang, Lina; Hu, Yanan; Peng, Qianqian; Li, Jinxi; Liu, Yu; Guan, Yaqun; Chen, Chen; Hamer, Merel A.; Nijsten, Tamar; Zeng, Changqing; Adhikari, Kaustubh; Gallo López-Aliaga, Carla Maria; Poletti, Giovanni; Schuler-Faccini, Lavinia; Bortolini, Maria-Cátira; Canizales-Quinteros, Samuel; Rothhammer, Francisco; Bedoya, Gabriel; González-José, Rolando; Li, Hui; Krutmann, Jean; Liu, Fan; Kayser, Manfred; Ruiz-Linares, Andres; Tang, Kun; Xu, Shuhua; Zhang, Liang; Jin, Li; Wang, Sijia (Public Library of Science, 2018)

Hair plays an important role in primates and is clearly subject to adaptive selection. While humans have lost most facial hair, eyebrows are a notable exception. Eyebrow thickness is heritable and widely believed to be ...
Genome-wide association studies identify DNA variants influencing eyebrow thickness variation in Europeans and across continental populations.

Peng, Fuduan; Xiong, Ziyi; Zhu, Gu; Hysi, Pirro G.; Eller, Ryan J.; Wu, Sijie; Adhikari, Kaustubh; Chen, Yan; Li, Yi; Gonzalez-José, Rolando; Schüler-Faccini, Lavinia; Bortolini, Maria-Cátira; Acuña-Alonzo, Victor; Canizales-Quinteros, Samuel; Gallo López-Aliaga, Carla Maria; Poletti Ferrara, Giovanni Angelo; Bedoya, Gabriel; Rothhammer, Francisco; Uitterlinden, André G.; Ikram, M. Arfan; Nijsten, Tamar; Ruiz-Linares, Andrés; Wang, Sijia; Walsh, Susan; Spector, Timothy D.; Martin, Nicholas G.; Kayser, Manfred; Liu, Fan (Elsevier, 2023)

Ethics. Human subjects: All cohort participants gave written informed consent and consent to publish. Ethical approvals were provided for the Rotterdam Study according to the Population Study Act Rotterdam Study (Wet ...
A genome-wide association study identifies multiple loci for variation in human ear morphology

Adhikari, Kaustubh; Reales, Guillermo; Smith, Andrew J. P.; Konka, Esra; Palmen, Jutta; Quinto-Sanchez, Mirsha; Acuna-Alonzo, Victor; Jaramillo, Claudia; Arias, William; Fuentes, Macarena; Pizarro, Maria; Barquera Lozano, Rodrigo; Macin Perez, Gaston; Gomez-Valdes, Jorge; Villamil-Ramirez, Hugo; Hunemeier, Tabita; Ramallo, Virginia; Silva de Cerqueira, Caio C.; Hurtado, Malena; Villegas, Valeria; Granja, Vanessa; Gallo López-Aliaga, Carla Maria; Poletti, Giovanni; Schuler-Faccini, Lavinia; Salzano, Francisco M.; Bortolini, Maria-Catira; Canizales-Quinteros, Samuel; Rothhammer, Francisco; Bedoya, Gabriel; Calderon, Rosario; Rosique, Javier; Cheeseman, Michael; Bhutta, Mahmood F.; Humphries, Steve E.; Gonzalez-Jose, Rolando; Headon, Denis; Balding, David; Ruiz-Linares, Andres (Springer Nature, 2015)

Here we report a genome-wide association study for non-pathological pinna morphology in over 5,000 Latin Americans. We find genome-wide significant association at seven genomic regions affecting: lobe size and attachment, ...
A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation

Bonfante, Betty; Faux, Pierre; Navarro, Nicolas; Mendoza-Revilla, Javier; Dubied, Morgane; Montillot, Charlotte; Wentworth, Emma; Poloni, Lauriane; Varón-González, Ceferino; Jones, Philip; Xiong, Ziyi; Fuentes-Guajardo, Macarena; Palmal, Sagnik; Chacón-Duque, Juan Camilo; Hurtado, Malena; Villegas, Valeria; Granja, Vanessa; Jaramillo, Claudia; Arias, William; Barquera, Rodrigo; Everardo-Martínez, Paola; Sánchez-Quinto, Mirsha; Gómez-Valdés, Jorge; Villamil-Ramírez, Hugo; Silva de Cerqueira, Caio C.; Hünemeier, Tábita; Ramallo, Virginia; Liu, Fan; Weinberg, Seth M.; Shaffer, John R.; Stergiakouli, Evie; Howe, Laurence J.; Hysi, Pirro G.; Spector, Timothy D.; Gonzalez-José, Rolando; Schüler-Faccini, Lavinia; Bortolini, Maria-Cátira; Acuña-Alonzo, Victor; Canizales-Quinteros, Samuel; Gallo López-Aliaga, Carla Maria; Poletti, Giovanni; Bedoya, Gabriel; Rothhammer, Francisco; Thauvin-Robinet, Christel; Faivre, Laurence; Costedoat, Caroline; Balding, David; Cox, Timothy; Kayser, Manfred; Duplomb, Laurence; Yalcin, Binnaz; Cotney, Justin; Adhikari, Kaustubh; Ruiz-Linares, Andrés (American Association for the Advancement of Science, 2021)

To characterize the genetic basis of facial features in Latin Americans, we performed a genome-wide association study (GWAS) of more than 6000 individuals using 59 landmark-based measurements from two-dimensional profile ...
Latin Americans show wide-spread Converso ancestry and imprint of local Native ancestry on physical appearance

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, Tabita; Ramallo, Virginia; Silva de Cerqueira, Caio C.; Hurtado, Malena; Villegas, Valeria; Granja, Vanessa; Villena, Mercedes; Vásquez, Rene; Llop, Elena; Sandoval, Jose 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, Veronica; Resende, Carlos; Gusmão, Leonor; Amorim, Antonio; Xue, Yali; Dugoujon, Jean-Michel; Moral, Pedro; González-José, Rolando; Schuler-Faccini, Lavinia; Salzano, Francisco M.; Bortolini, Maria-Catira; Canizales-Quinteros, Samuel; Poletti, Giovanni; Gallo López-Aliaga, Carla Maria; Bedoya, Gabriel; Rothhammer, Francisco; Balding, David; Hellenthal, Garrett; Ruiz-Linares, Andres (Springer Nature, 2018)

Historical records and genetic analyses indicate that Latin Americans trace their ancestry mainly to the intermixing (admixture) of Native Americans, Europeans and Sub-Saharan Africans. Using novel haplotype-based methods, ...
Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair

Liu, Fan; Chen, Yan; Zhu, Gu; Hysi, Pirro G.; Wu, Sijie; Adhikari, Kaustubh; Breslin, Krystal; Pospiech, Ewelina; Hamer, Merel A.; Peng, Fuduan; Muralidharan, Charanya; Acuna-Alonzo, Victor; Canizales-Quinteros, Samuel; Bedoya, Gabriel; Gallo López-Aliaga, Carla Maria; Poletti, Giovanni; Rothhammer, Francisco; Bortolini, Maria Catira; Gonzalez-Jose, Rolando; Zeng, Changqing; Xu, Shuhua; Jin, Li; Uitterlinden, André G.; Ikram, M. Arfan; van Duijn, Cornelia M.; Nijsten, Tamar; Walsh, Susan; Branicki, Wojciech; Wang, Sijia; Ruiz-Linares, Andrés; Spector, Timothy D.; Martin, Nicholas G.; Medland, Sarah E.; Kayser, Manfred (Oxford University Press, 2018)

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 ...
Neanderthal introgression in SCN9A impacts mechanical pain sensitivity

Faux, Pierre; Ding, Li; Ramirez-Aristeguieta, Luis Miguel; Chacón-Duque, J. Camilo; Comini, Maddalena; Mendoza Revilla, Javier Alberto; Fuentes-Guajardo, Macarena; Jaramillo, Claudia; Arias, William; Hurtado Chiong, Gloria Malena; Villegas Bernaola, Valeria; Granja Burbano, Vanessa Patricia; 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 Ferrara, Giovanni Angelo; Gallo López-Aliaga, Carla Maria|Rothhammer, Francisco; Rojas, Winston; Schmid, Annina B.; Adhikari, Kaustubh; Bennett, David L.; Ruiz-Linares, Andrés (Nature Research, 2023)

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 ...
Novel genetic loci affecting facial shape variation in humans.

Xiong, Ziyi; Dankova, Gabriela; Howe, Laurence J.; Lee, Myoung Keun; Hysi, Pirro G.; de Jong, Markus A.; Zhu, Gu; Adhikari, Kaustubh; Li, Dan; Li, Yi; Pan, Bo; Feingold, Eleanor; Marazita, Mary L.; Shaffer, John R.; McAloney, Kerrie; Xu, Shu-Hua; Jin, Li; Wang, Sijia; de Vrij, Femke Ms; Lendemeijer, Bas; Richmond, Stephen; Zhurov, Alexei; Lewis, Sarah; Sharp, Gemma C.; Paternoster, Lavinia; Thompson, Holly; Gonzalez-Jose, Rolando; Bortolini, Maria Catira; Canizales-Quinteros, Samuel; Gallo López-Aliaga, Carla Maria; Poletti, Giovanni; Bedoya, Gabriel; Rothhammer, Francisco; Uitterlinden, Andre G.; Ikram, M. Arfan; Wolvius, Eppo; Kushner, Steven A.; Nijsten, Tamar Ec; Palstra, Robert-Jan Ts; Boehringer, Stefan; Medland, Sarah E.; Tang, Kun; Ruiz-Linares, Andres; Martin, Nicholas G.; Spector, Timothy D.; Stergiakouli, Evie; Weinberg, Seth M.; Liu, Fan; Kayser, Manfred (eLife Sciences Publications, 2019)

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

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; Gonzalez-Jose, Rolando (Wiley, 2019)

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

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 López-Aliaga, Carla Maria; Poletti, Giovanni; Bedoya, Gabriel; Rothhammer, Francisco; Balding, David; Faux, Pierre; Ruiz-Linares, Andrés (Elsevier, 2021)

Here we evaluate the accuracy of prediction for eye, hair and skin pigmentation in a dataset of > 6500 individuals from Mexico, Colombia, Peru, Chile and Brazil (including genome-wide SNP data and quantitative/categorical ...