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2. 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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5. 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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7. Teaching Forensic Entomology, Forensic Anthropology, and HaematologySerology during the COVID-19 pandemic: Practical activities for distance learning

Author

Villavicencio-Queijeiro Alexa, Pedraza-Lara Carlos, Quinto-Sánchez Mirsha, Castillo-Alanís Alejandra, Sosa-Reyes Ana María, Gómez-Valdes Jorge A, Ojeda Margarita, De Jesús-Bonilla Vladimir, Enríquez-Farías Roxana, and Suzuri-Hernández Luis Jiro

Subjects
Education, Distance, Forensic Entomology, Forensic Sciences, Humans, COVID-19, Forensic Anthropology, Curriculum, Hematology, Pandemics, Pathology and Forensic Medicine
Abstract

As the COVID-19 pandemic upended college and university instruction throughout the world, instructors were hard-pressed to find suitable alternatives for practical activities typically carried out outside of classrooms-in laboratories, workshops, clinics, and in the field. In response to this unanticipated challenge, they relied on their ingenuity to achieve pre-pandemic goals under pandemic conditions that necessitated the shift to online teaching. The Forensic Science Undergraduate Program housed in the School of Medicine of the National Autonomous University of Mexico was not exempt from this educational upheaval but, due to its interdisciplinary nature, required creating and/or adopting a wide range of activities capable of training students to perform practical tasks associated with subject areas that span the natural and social sciences, the humanities, and the law. This report aims to describe the approaches undertaken in three subjects (Forensic Entomology, Forensic Anthropology, and HematologySerology) by interviewing instructors and examining their teaching materials. Also, through online surveys, students' reactions to these approaches were elicited to learn about their suitability and teaching potential. Instructor's experiences during the pandemic have proven to be a rich source of ingenious solutions, with implications well-beyond the current crisis, such as creating blended or fully online courses aimed at larger numbers of students, forensic and legal professionals, and even other instructors. The wide variety of forensic sciences offers the opportunity to innovate and improve the teaching and learning of science, particularly to the benefit of students that must combine their school tasks with professional and/or family duties.

Published
2021

9. Automatic Ear Detection and Segmentation over Partially Occluded Profile Face Images

Author

Cintas, Celia, Delrieux, Claudio, Navarro, Pablo, Quinto-Sánchez, Mirsha, Pazos, Bruno, and González-José, Rolando

Subjects
biometrics, aprendizaje profundo, biometría, oclusiones, otorhinolaryngologic diseases, Ciencias Informáticas, deep learning, sense organs, occlusion, convex hull, detección de oidos, ear detection
Abstract

Automated, non invasive ear detection in images and video is becoming increasingly required in several contexts, including nonivasive biometric identification, biomedical analysis, forensics, and many others. In biometric recognition systems, fast and robust ear detection is a crucial step within the recognition pipeline. Existing approaches to ear detection are susceptible to fail in the presence of typical everyday situations that prevent a crisp imaging of the ears, like partial occlusions, ear accessories, or uncontrolled camera and illumination conditions. Even more, most of the proposed solutions work efficiently only within a previously detected rectangular region of interest, which limits their applicability and lowers the accuracy of the overall detection. In this paper we evaluate the use of Convolutional Neural Networks (CNNs) together with Geometric Morphometrics (GM) for automatic ear detection in the presence of partial occlusions, and a Convex Hull algorithm for the ear area segmentation. A CNN was trained with a set of ear images landmarked by experts using GM to achieve high consistency. After training, the CNN is able to detect ears over profile faces, even in the presence of partial occlusions. We analyze the performance of the proposed ear detection and segmentation method over partially occluded ear images using the CVL Dataset., La detección automática del pabellón auditivo en imágenes y video, es una funcionalidad crecientemente requerida en varios contextos. Entre ellos podemos citar: identificación biométrica no invasiva, análisis biomédicos, estudios forenses, entre otros. En los sistemas de reconocimiento biométrico, la detección rápida y confiable del pabellón auditivo es un paso fundamental dentro del procesamiento. Las aproximaciones existentes con respecto a esta detección no son robustas, siendo susceptibles a fallas en la presencia de oclusiones parciales, accesorios como aros o piercings, o condiciones desfavorables en la cámara o la iluminación. Además, gran parte de los sistemas biométricos de la actualidad asumen que el dato de entrada será la región de interés que contiene el pabellón auditivo, lo cual limita su uso y reduce la exactitud global de reconocimiento. En este trabajo se evalúa el uso de redes convolucionales (Convolutional Neural Networks o CNNs) junto con Morfometría Geométrica para la detección automática del pabellón auditivo y la segmentación de los píxeles correspondientes al mismo mediante el uso de un algoritmo de Convex Hull. Luego del entrenamiento, la red CNN puede detectar el pabellón auditivo sobre imágenes de rostro en vista lateral, inclusive en la presencia de oclusiones parciales. Se analiza la performance del método de detección y segmentación de orejas sobre imágenes con oclusiones parciales correspondientes al conjunto de datos CVL., Facultad de Informática

Published
2019

13. 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

15. 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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16. 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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17. 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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19. Relación entre tratamiento hormonal, cirugía-ortodoncia maxilofacial, traumatismos y malformaciones craneofaciales y la asimetría fluctuante

Author

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

Published
2017
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20. Shifts in subsistence type and its impact on the human skull's morphological integration

Author

Paschetta, Carolina Andrea, de Azevedo, Soledad, González, Marina Fernanda, Quinto Sánchez, Mirsha, Cintas, Celia, Varela, Hector Hugo, Gómez Valdés, Jorge, Sánchez Mejorada, Gabriela, and González José, Rolando

Subjects
Ciencias Biológicas, GEOMETRIC MORPHOMETRICS, HUMAN SKULL, MORPHOLOGICAL INTEGRATION, Otras Ciencias Biológicas, CIENCIAS NATURALES Y EXACTAS, MASTICATORY LOADINGS
Abstract

Objective: Here we evaluate morphological integration patterns and magnitudes in different skull regions to detect if shifts in morphological integration are correlated to the appearance of more processed (softer) diets. Methods: To do so, three transitional populations were analyzed, including samples from groups that inhabited the same geographical region and for which the evidence shows that major changes occurred in their subsistence mode. Ninety three-dimensional landmarks were digitized on 357 skulls and used as the raw data to develop geometric morphometric analyses. The landmark coordinates were divided into several different regions of biomechanical interest, following a three-level hierarchically nested scheme: the whole skull, further subdivided into neurocranium (divided into the vault and basicranium), the facial (divided into the lower and upper facial), and the masticatory apparatus (divided into alveolar, temporal, and temporo-mandibular joint). Results: Our results indicate that the morphological integration and variability patterns significantly vary across skull regions but are maintained across the transitions. The alveolar border and the lower facial are the regions manifesting greater value of morphological integration and variability, while the upper facial, the temporo-mandibular joint, and the basicranium are highly integrated and poorly variable. Conclusions: The transition to softer diets increased morphological variation across cranial regions that are more exposed to masticatory strains effects. Fil: Paschetta, Carolina Andrea. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Nacional Patagónico; Argentina Fil: de Azevedo, Soledad. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Nacional Patagónico; Argentina Fil: González, Marina Fernanda. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Nacional Patagónico; Argentina Fil: Quinto Sánchez, Mirsha. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Nacional Patagónico; Argentina Fil: Cintas, Celia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Nacional Patagónico; Argentina Fil: Varela, Hector Hugo. Universidad Nacional de Rio Cuarto; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico; Argentina Fil: Gómez Valdés, Jorge. Universidad Nacional Autonoma de Mexico. Facultad de Ciencias; México Fil: Sánchez Mejorada, Gabriela. Universidad Nacional Autonoma de Mexico. Facultad de Ciencias; México Fil: González José, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Nacional Patagónico; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina

Published
2015
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21. Correction: Socioeconomic Status Is Not Related with Facial Fluctuating Asymmetry: Evidence from Latin-American Populations

Author

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

Published
2017
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22. Automatic ear detection and feature extraction using Geometric Morphometrics and convolutional neural networks

Author

Cintas, Celia, primary, Quinto‐Sánchez, Mirsha, additional, Acuña, Victor, additional, Paschetta, Carolina, additional, de Azevedo, Soledad, additional, Cesar Silva de Cerqueira, Caio, additional, Ramallo, Virginia, additional, Gallo, Carla, additional, Poletti, Giovanni, additional, Bortolini, Maria Catira, additional, Canizales‐Quinteros, Samuel, additional, Rothhammer, Francisco, additional, Bedoya, Gabriel, additional, Ruiz‐Linares, Andres, additional, Gonzalez‐José, Rolando, additional, and Delrieux, Claudio, additional

Published
2017
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23. Socioeconomic Status Is Not Related with Facial Fluctuating Asymmetry: Evidence from Latin-American Populations

Author

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

Published
2017
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26. Facial asymmetry and genetic ancestry in Latin American admixed populations

Author

Quinto‐Sánchez, Mirsha, primary, Adhikari, Kaustubh, additional, Acuña‐Alonzo, Victor, additional, Cintas, Celia, additional, Silva de Cerqueira, Caio Cesar, additional, Ramallo, Virginia, additional, Castillo, Lucia, additional, Farrera, Arodi, additional, Jaramillo, Claudia, additional, Arias, Williams, additional, Fuentes, Macarena, additional, Everardo, Paola, additional, de Avila, Francisco, additional, Gomez‐Valdés, Jorge, additional, Hünemeier, Tábita, additional, Gibbon, Shara, additional, Gallo, Carla, additional, Poletti, Giovanni, additional, Rosique, Javier, additional, Bortolini, Maria Cátira, additional, Canizales‐Quinteros, Samuel, additional, Rothhammer, Francisco, additional, Bedoya, Gabriel, additional, Ruiz‐Linares, Andres, additional, and González‐José, Rolando, additional

Published
2015
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28. FGFR1 signaling is associated with the magnitude of morphological integration in human head shape

Author

Hünemeier, Tábita, primary, Gómez‐Valdés, Jorge, additional, De Azevedo, Soledad, additional, Quinto‐Sánchez, Mirsha, additional, Passaglia, Luciane, additional, Salzano, Francisco M., additional, Sánchez‐Mejorada, Gabriela, additional, Alonzo, Víctor Acuña, additional, Martínez‐Abadías, Neus, additional, Bortolini, Maria‐Cátira, additional, and González‐José, Rolando, additional

Published
2013
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29. Lack of Support for the Association between Facial Shape and Aggression: A Reappraisal Based on a Worldwide Population Genetics Perspective

Author

Gómez-Valdés, Jorge, primary, Hünemeier, Tábita, additional, Quinto-Sánchez, Mirsha, additional, Paschetta, Carolina, additional, de Azevedo, Soledad, additional, González, Marina F., additional, Martínez-Abadías, Neus, additional, Esparza, Mireia, additional, Pucciarelli, Héctor M., additional, Salzano, Francisco M., additional, Bau, Claiton H. D., additional, Bortolini, Maria Cátira, additional, and González-José, Rolando, additional

Published
2013
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31. Shifts in subsistence type and its impact on the human skull's morphological integration.

Author

Paschetta, Carolina, De Azevedo, Soledad, González, Marina, Quinto‐Sánchez, Mirsha, Cintas, Celia, Varela, Hugo, Gómez‐Valdés, Jorge, Sánchez‐Mejorada, Gabriela, and González‐José, Rolando

Subjects
SKULL, MORPHOLOGY, REDUCING diets, POPULATION research, DIET, PHYSIOLOGY
Abstract

Objective Here we evaluate morphological integration patterns and magnitudes in different skull regions to detect if shifts in morphological integration are correlated to the appearance of more processed (softer) diets. Methods To do so, three transitional populations were analyzed, including samples from groups that inhabited the same geographical region and for which the evidence shows that major changes occurred in their subsistence mode. Ninety three-dimensional landmarks were digitized on 357 skulls and used as the raw data to develop geometric morphometric analyses. The landmark coordinates were divided into several different regions of biomechanical interest, following a three-level hierarchically nested scheme: the whole skull, further subdivided into neurocranium (divided into the vault and basicranium), the facial (divided into the lower and upper facial), and the masticatory apparatus (divided into alveolar, temporal, and temporo-mandibular joint). Results Our results indicate that the morphological integration and variability patterns significantly vary across skull regions but are maintained across the transitions. The alveolar border and the lower facial are the regions manifesting greater value of morphological integration and variability, while the upper facial, the temporo-mandibular joint, and the basicranium are highly integrated and poorly variable. Conclusions The transition to softer diets increased morphological variation across cranial regions that are more exposed to masticatory strains effects. Am. J. Hum. Biol. 28:118-128, 2016. © 2015 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Published
2016
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32. The relationship between facial shape asymmetry and attractiveness in Mexican students.

Author

Farrera, Arodi, Villanueva, María, Quinto‐Sánchez, Mirsha, and González‐José, Rolando

Subjects
FACIAL anatomy, FACE perception, FACIAL reconstruction (Anthropology), MEXICAN students, BIOMETRIC identification, INTERPERSONAL attraction, STATISTICAL correlation
Abstract

Objectives It has been postulated that symmetric faces are considered more attractive than asymmetric ones because symmetry may signal high quality due to developmental stability. However, other studies showed that both symmetric and slightly asymmetric faces are considered attractive. Here we aim to explore this discrepancy, beginning with the analysis of the normal prevalence of facial symmetry in a population as a necessary first step prior to any attractiveness assessment. Methods We collected facial landmarks from two-dimensional digital images of a sample of Mexican individuals (280 females and 285 males aged 18-68 years) that were analyzed using geometric morphometric methods. Then, we chose a subsample of 100 photographs (50 females and 50 males aged 18-27 years) selected to represent a broad range of asymmetrical variation, in order to evaluate attractiveness using a sex-opposite test. Finally, we analyzed the linear correlation between attractiveness and asymmetry. Results We found that every evaluated subject presents some degree of facial asymmetry, and that both fluctuating asymmetry and directional asymmetry were significant ( P < 0.0001) components of total facial asymmetry. Fluctuating asymmetry was slightly associated with age ( r = 0.0858, P = 0.0414) and there were no differences between geographical regions ( P = 0.413). Attractiveness was not correlated to levels of asymmetry in either sex (males: P = 0.0973; females P = 0.7415). Conclusions Asymmetry was a prevalent feature in the present sample, and preferences for symmetric faces were not operating in the studied population. Am. J. Hum. Biol. 27:387-396, 2015. © 2014 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Published
2015
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33. FGFR1 signaling is associated with the magnitude of morphological integration in human head shape.

Author

Hünemeier, Tábita, Gómez‐Valdés, Jorge, Azevedo, Soledad, Quinto‐Sánchez, Mirsha, Passaglia, Luciane, Salzano, Francisco M., Sánchez‐Mejorada, Gabriela, Alonzo, Víctor Acuña, Martínez‐Abadías, Neus, Bortolini, Maria‐Cátira, and González‐José, Rolando

Subjects
FIBROBLAST growth factors, CELL communication, PHENOTYPES, ALLELES, RECEPTOR antibodies
Abstract

ABSTRACT Objectives The head can be used as a model to study complex phenotypes controlled simultaneously by morphological integration (MI) due to common factors, and modular patterns caused by local factors affecting the development and functional demands of specific structures. The fibroblast growth factor and receptor system (FGF/FGFR) participates in cell communication and pattern formation in osseous tissues, among others, and there is compelling evidence from mouse model studies suggesting a role of the FGF/FGFR pathway as a covariance-generating signaling process in head development. Here we use human data to test if specific genetic variants of another gene of this pathway, the FGFR1 gene, can be associated with differences in the integration of the head. Methods We explored whether and how three specific variants on FGFR1, previously associated with human cephalic index, influence the pattern and level of head integration of one Native American and one admixed group from Mexico. MI, measured as the intensity of covariation among head traits, was assessed using data from three-dimensional head landmark coordinates taken on 176 individuals. Results Individuals carrying the derived allele of the rs4647905:G>C polymorphism present significantly greater levels of head MI, especially in facial structures and on the shape space where the modular portion of the covariation is explicitly removed. Conclusions Since FGFR genes present nonconservative and tissue-specific splicing sites, they may have some effect on protein structure and performance likely involved in developmental processes responsible for the magnitude and pattern of MI in the human head. Am. J. Hum. Biol. 26:164-175, 2014. © 2013 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Published
2014
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34. 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, Ruiz-Linares, Andrés, 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

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<5 × 10−8) at single-nucleotide polymorphisms (SNPs) in four genomic regions for three nose-related traits: columella inclination (4q31), nose bridge breadth (6p21) and nose wing breadth (7p13 and 20p11). In a subsample of ∼3,000 individuals we obtained quantitative traits related to 9 of the ordinal phenotypes and, also, a measure of nasion position. Quantitative analyses confirmed the ordinal-based associations, identified SNPs in 2q12 associated to chin protrusion, and replicated the reported association of nasion position with SNPs in PAX3. Strongest association in 2q12, 4q31, 6p21 and 7p13 was observed for SNPs in the EDAR, DCHS2, RUNX2 and GLI3 genes, respectively. Associated SNPs in 20p11 extend to PAX1. Consistent with the effect of EDAR on chin protrusion, we documented alterations of mandible length in mice with modified Edar function.

35. 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, Ruiz-Linares, Andrés, 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

Abstract

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, here we infer sub-continental ancestry in over 6,500 Latin Americans and evaluate the impact of regional ancestry variation on physical appearance. We find that Native American ancestry components in Latin Americans correspond geographically to the present-day genetic structure of Native groups, and that sources of non-Native ancestry, and admixture timings, match documented migratory flows. We also detect South/East Mediterranean ancestry across Latin America, probably stemming mostly from the clandestine colonial migration of Christian converts of non-European origin (Conversos). Furthermore, we find that ancestry related to highland (Central Andean) versus lowland (Mapuche) Natives is associated with variation in facial features, particularly nose morphology, and detect significant differences in allele frequencies between these groups at loci previously associated with nose morphology in this sample.

36. Socioeconomic Status Is Not Related with Facial Fluctuating Asymmetry: Evidence from Latin-American Populations

Author

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

Abstract

The expression of facial asymmetries has been recurrently related with poverty and/or disadvantaged socioeconomic status. Departing from the developmental instability theory, previous approaches attempted to test the statistical relationship between the stress experienced by individuals grown in poor conditions and an increase in facial and corporal asymmetry. Here we aim to further evaluate such hypothesis on a large sample of admixed Latin Americans individuals by exploring if low socioeconomic status individuals tend to exhibit greater facial fluctuating asymmetry values. To do so, we implement Procrustes analysis of variance and Hierarchical Linear Modelling (HLM) to estimate potential associations between facial fluctuating asymmetry values and socioeconomic status. We report significant relationships between facial fluctuating asymmetry values and age, sex, and genetic ancestry, while socioeconomic status failed to exhibit any strong statistical relationship with facial asymmetry. These results are persistent after the effect of heterozygosity (a proxy for genetic ancestry) is controlled in the model. Our results indicate that, at least on the studied sample, there is no relationship between socioeconomic stress (as intended as low socioeconomic status) and facial asymmetries.

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

Author

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, Carla, Poletti, Giovani, Bedoya, Gabriel, Bortolini, Maria Cátira, Canizales-Quinteros, Samuel, Rothhammer, Francisco, Rosique, Javier, Ruiz-Linares, Andres, Gonzalez-Jose, Rolando, 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, Carla, Poletti, Giovani, Bedoya, Gabriel, Bortolini, Maria Cátira, Canizales-Quinteros, Samuel, Rothhammer, Francisco, Rosique, Javier, Ruiz-Linares, Andres, and Gonzalez-Jose, Rolando

Abstract

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 comprehensive and simultaneous analysis of modularity, morphological integration and facial asymmetries including both phenotypic and genomic information are needed. Here we explore several modularity hypotheses on a sample of Latin American mestizos, in order to test if modularity and integration patterns difer across several genomic ancestry backgrounds. To do so, 4104 individuals were analyzed using 3D photogrammetry reconstructions and a set of 34 facial landmarks placed on each individual. We found a pattern of modularity and integration that is conserved across sub-samples difering in their genomic ancestry background. Specifcally, a signal of modularity based on functional demands and organization of the face is regularly observed across the whole sample. Our results shed more light on previous evidence obtained from Genome Wide Association Studies performed on the same samples, indicating the action of diferent genomic regions contributing to the expression of the nose and mouth facial phenotypes. Our results also indicate that large samples including phenotypic and genomic metadata enable a better understanding of the developmental and genetic architecture of craniofacial phenotypes.

38. 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., Ruiz-Linares, Andrés, 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

Abstract

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

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

Author

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, Carla, Poletti, Giovani, Bedoya, Gabriel, Bortolini, Maria Cátira, Canizales-Quinteros, Samuel, Rothhammer, Francisco, Rosique, Javier, Ruiz-Linares, Andres, Gonzalez-Jose, Rolando, 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, Carla, Poletti, Giovani, Bedoya, Gabriel, Bortolini, Maria Cátira, Canizales-Quinteros, Samuel, Rothhammer, Francisco, Rosique, Javier, Ruiz-Linares, Andres, and Gonzalez-Jose, Rolando

Abstract

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 comprehensive and simultaneous analysis of modularity, morphological integration and facial asymmetries including both phenotypic and genomic information are needed. Here we explore several modularity hypotheses on a sample of Latin American mestizos, in order to test if modularity and integration patterns difer across several genomic ancestry backgrounds. To do so, 4104 individuals were analyzed using 3D photogrammetry reconstructions and a set of 34 facial landmarks placed on each individual. We found a pattern of modularity and integration that is conserved across sub-samples difering in their genomic ancestry background. Specifcally, a signal of modularity based on functional demands and organization of the face is regularly observed across the whole sample. Our results shed more light on previous evidence obtained from Genome Wide Association Studies performed on the same samples, indicating the action of diferent genomic regions contributing to the expression of the nose and mouth facial phenotypes. Our results also indicate that large samples including phenotypic and genomic metadata enable a better understanding of the developmental and genetic architecture of craniofacial phenotypes.

40. 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, Ruiz-Linares, Andrés, 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

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<5 × 10−8) at single-nucleotide polymorphisms (SNPs) in four genomic regions for three nose-related traits: columella inclination (4q31), nose bridge breadth (6p21) and nose wing breadth (7p13 and 20p11). In a subsample of ∼3,000 individuals we obtained quantitative traits related to 9 of the ordinal phenotypes and, also, a measure of nasion position. Quantitative analyses confirmed the ordinal-based associations, identified SNPs in 2q12 associated to chin protrusion, and replicated the reported association of nasion position with SNPs in PAX3. Strongest association in 2q12, 4q31, 6p21 and 7p13 was observed for SNPs in the EDAR, DCHS2, RUNX2 and GLI3 genes, respectively. Associated SNPs in 20p11 extend to PAX1. Consistent with the effect of EDAR on chin protrusion, we documented alterations of mandible length in mice with modified Edar function.

41. 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, Ruiz-Linares, Andrés, 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

Abstract

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, here we infer sub-continental ancestry in over 6,500 Latin Americans and evaluate the impact of regional ancestry variation on physical appearance. We find that Native American ancestry components in Latin Americans correspond geographically to the present-day genetic structure of Native groups, and that sources of non-Native ancestry, and admixture timings, match documented migratory flows. We also detect South/East Mediterranean ancestry across Latin America, probably stemming mostly from the clandestine colonial migration of Christian converts of non-European origin (Conversos). Furthermore, we find that ancestry related to highland (Central Andean) versus lowland (Mapuche) Natives is associated with variation in facial features, particularly nose morphology, and detect significant differences in allele frequencies between these groups at loci previously associated with nose morphology in this sample.

42. Socioeconomic Status Is Not Related with Facial Fluctuating Asymmetry: Evidence from Latin-American Populations

Author

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

Abstract

The expression of facial asymmetries has been recurrently related with poverty and/or disadvantaged socioeconomic status. Departing from the developmental instability theory, previous approaches attempted to test the statistical relationship between the stress experienced by individuals grown in poor conditions and an increase in facial and corporal asymmetry. Here we aim to further evaluate such hypothesis on a large sample of admixed Latin Americans individuals by exploring if low socioeconomic status individuals tend to exhibit greater facial fluctuating asymmetry values. To do so, we implement Procrustes analysis of variance and Hierarchical Linear Modelling (HLM) to estimate potential associations between facial fluctuating asymmetry values and socioeconomic status. We report significant relationships between facial fluctuating asymmetry values and age, sex, and genetic ancestry, while socioeconomic status failed to exhibit any strong statistical relationship with facial asymmetry. These results are persistent after the effect of heterozygosity (a proxy for genetic ancestry) is controlled in the model. Our results indicate that, at least on the studied sample, there is no relationship between socioeconomic stress (as intended as low socioeconomic status) and facial asymmetries.

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