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10 results on '"Samuel Canizales-Quinteros"'

1. Neanderthal introgression in SCN9A impacts mechanical pain sensitivity

Author

Pierre Faux, Li Ding, Luis Miguel Ramirez-Aristeguieta, J. Camilo Chacón-Duque, Maddalena Comini, Javier Mendoza-Revilla, Macarena Fuentes-Guajardo, Claudia Jaramillo, William Arias, Malena Hurtado, Valeria Villegas, Vanessa Granja, Rodrigo Barquera, Paola Everardo-Martínez, Mirsha Quinto-Sánchez, Jorge Gómez-Valdés, Hugo Villamil-Ramírez, Caio C. Silva de Cerqueira, Tábita Hünemeier, Virginia Ramallo, Rolando Gonzalez-José, Lavinia Schüler-Faccini, Maria-Cátira Bortolini, Victor Acuña-Alonzo, Samuel Canizales-Quinteros, Giovanni Poletti, Carla Gallo, Francisco Rothhammer, Winston Rojas, Annina B. Schmid, Kaustubh Adhikari, David L. Bennett, and Andrés Ruiz-Linares

Subjects
Biology (General), QH301-705.5
Abstract

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.

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

Author

Qing Li, Jieyi Chen, Pierre Faux, Miguel Eduardo Delgado, Betty Bonfante, Macarena Fuentes-Guajardo, Javier Mendoza-Revilla, J. Camilo Chacón-Duque, Malena Hurtado, Valeria Villegas, Vanessa Granja, Claudia Jaramillo, William Arias, Rodrigo Barquera, Paola Everardo-Martínez, Mirsha Sánchez-Quinto, Jorge Gómez-Valdés, Hugo Villamil-Ramírez, Caio C. Silva de Cerqueira, Tábita Hünemeier, Virginia Ramallo, Sijie Wu, Siyuan Du, Andrea Giardina, Soumya Subhra Paria, Mahfuzur Rahman Khokan, Rolando Gonzalez-José, Lavinia Schüler-Faccini, Maria-Cátira Bortolini, Victor Acuña-Alonzo, Samuel Canizales-Quinteros, Carla Gallo, Giovanni Poletti, Winston Rojas, Francisco Rothhammer, Nicolas Navarro, Sijia Wang, Kaustubh Adhikari, and Andrés Ruiz-Linares

Subjects
Biology (General), QH301-705.5
Abstract

Abstract 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 associations (P-value

Published
2023
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3. Native American ancestry significantly contributes to neuromyelitis optica susceptibility in the admixed Mexican population

Author

Sandra Romero-Hidalgo, José Flores-Rivera, Verónica Rivas-Alonso, Rodrigo Barquera, María Teresa Villarreal-Molina, Bárbara Antuna-Puente, Luis Rodrigo Macias-Kauffer, Marisela Villalobos-Comparán, Jair Ortiz-Maldonado, Neng Yu, Tatiana V. Lebedeva, Sharon M. Alosco, Juan Daniel García-Rodríguez, Carolina González-Torres, Sandra Rosas-Madrigal, Graciela Ordoñez, Jorge Luis Guerrero-Camacho, Irene Treviño-Frenk, Monica Escamilla-Tilch, Maricela García-Lechuga, Víctor Hugo Tovar-Méndez, Hanna Pacheco-Ubaldo, Victor Acuña-Alonzo, Maria-Cátira Bortolini, Carla Gallo, Gabriel Bedoya, Francisco Rothhammer, Rolando González-Jose, Andrés Ruiz-Linares, Samuel Canizales-Quinteros, Edmond Yunis, Julio Granados, and Teresa Corona

Subjects
Medicine, Science
Abstract

Abstract Neuromyelitis Optica (NMO) is an autoimmune disease with a higher prevalence in non-European populations. Because the Mexican population resulted from the admixture between mainly Native American and European populations, we used genome-wide microarray, HLA high-resolution typing and AQP4 gene sequencing data to analyze genetic ancestry and to seek genetic variants conferring NMO susceptibility in admixed Mexican patients. A total of 164 Mexican NMO patients and 1,208 controls were included. On average, NMO patients had a higher proportion of Native American ancestry than controls (68.1% vs 58.6%; p = 5 × 10–6). GWAS identified a HLA region associated with NMO, led by rs9272219 (OR = 2.48, P = 8 × 10–10). Class II HLA alleles HLA-DQB1*03:01, -DRB1*08:02, -DRB1*16:02, -DRB1*14:06 and -DQB1*04:02 showed the most significant associations with NMO risk. Local ancestry estimates suggest that all the NMO-associated alleles within the HLA region are of Native American origin. No novel or missense variants in the AQP4 gene were found in Mexican patients with NMO or multiple sclerosis. To our knowledge, this is the first study supporting the notion that Native American ancestry significantly contributes to NMO susceptibility in an admixed population, and is consistent with differences in NMO epidemiology in Mexico and Latin America.

Published
2020
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4. A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia

Author

Kaustubh Adhikari, Javier Mendoza-Revilla, Anood Sohail, Macarena Fuentes-Guajardo, Jodie Lampert, Juan Camilo Chacón-Duque, Malena Hurtado, Valeria Villegas, Vanessa Granja, Victor Acuña-Alonzo, Claudia Jaramillo, William Arias, Rodrigo Barquera Lozano, Paola Everardo, Jorge Gómez-Valdés, Hugo Villamil-Ramírez, Caio C. Silva de Cerqueira, Tábita Hunemeier, Virginia Ramallo, Lavinia Schuler-Faccini, Francisco M. Salzano, Rolando Gonzalez-José, Maria-Cátira Bortolini, Samuel Canizales-Quinteros, Carla Gallo, Giovanni Poletti, Gabriel Bedoya, Francisco Rothhammer, Desmond J. Tobin, Matteo Fumagalli, David Balding, and Andrés Ruiz-Linares

Subjects
Science
Abstract

Pigmentation variation in humans is influenced by complex genetic architecture in different populations. Here, the authors perform a genome-wide association analysis involving > 6,000 Latin Americans for pigmentation of skin and eyes, and identify known and novel genetic associations.

Published
2019
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5. Latin Americans show wide-spread Converso ancestry and imprint of local Native ancestry on physical appearance

Author

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

Subjects
Science
Abstract

Latin Americans trace their ancestry to the admixture of Native Americans, Europeans and Sub-Saharan Africans. Here, the authors develop a novel haplotype-based approach and analyse over 6,500 Latin Americans to infer the geographically-detailed genetic structure of this population.

Published
2018
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6. Demographic history and biologically relevant genetic variation of Native Mexicans inferred from whole-genome sequencing

Author

Sandra Romero-Hidalgo, Adrián Ochoa-Leyva, Alejandro Garcíarrubio, Victor Acuña-Alonzo, Erika Antúnez-Argüelles, Martha Balcazar-Quintero, Rodrigo Barquera-Lozano, Alessandra Carnevale, Fernanda Cornejo-Granados, Juan Carlos Fernández-López, Rodrigo García-Herrera, Humberto García-Ortíz, Ángeles Granados-Silvestre, Julio Granados, Fernando Guerrero-Romero, Enrique Hernández-Lemus, Paola León-Mimila, Gastón Macín-Pérez, Angélica Martínez-Hernández, Marta Menjivar, Enrique Morett, Lorena Orozco, Guadalupe Ortíz-López, Fernando Pérez-Villatoro, Javier Rivera-Morales, Fernando Riveros-McKay, Marisela Villalobos-Comparán, Hugo Villamil-Ramírez, Teresa Villarreal-Molina, Samuel Canizales-Quinteros, and Xavier Soberón

Subjects
Science
Abstract

People of Mexico have diverse historical and genetic background. Here, Romero-Hidalgo and colleagues sequence whole genomes of Native Americans of Mexico, and show demographic history and genetic variation shared among subgroups of Native Americans.

Published
2017
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7. An Amino Acid Signature Associated with Obesity Predicts 2-Year Risk of Hypertriglyceridemia in School-Age Children

Author

Sofia Moran-Ramos, Elvira Ocampo-Medina, Ruth Gutierrez-Aguilar, Luis Macías-Kauffer, Hugo Villamil-Ramírez, Blanca E. López-Contreras, Paola León-Mimila, Joel Vega-Badillo, Roxana Gutierrez-Vidal, Ricardo Villarruel-Vazquez, Erandi Serrano-Carbajal, Blanca E Del-Río-Navarro, Adriana Huertas-Vázquez, Teresa Villarreal-Molina, Isabel Ibarra-Gonzalez, Marcela Vela-Amieva, Carlos A. Aguilar-Salinas, and Samuel Canizales-Quinteros

Subjects
Medicine, Science
Abstract

Abstract Childhood obesity is associated with a number of metabolic abnormalities leading to increased cardiovascular risk. Metabolites can be useful as early biomarkers and new targets to promote early intervention beginning in school age. Thus, we aimed to identify metabolomic profiles associated with obesity and obesity-related metabolic traits. We used data from the Obesity Research Study for Mexican children (ORSMEC) in Mexico City and included a case control (n = 1120), cross-sectional (n = 554) and a longitudinal study (n = 301) of 6–12-year-old children. Forty-two metabolites were measured using electrospray MS/MS and multivariate regression models were used to test associations of metabolomic profiles with anthropometric, clinical and biochemical parameters. Principal component analysis showed a serum amino acid signature composed of arginine, leucine/isoleucine, phenylalanine, tyrosine, valine and proline significantly associated with obesity (OR = 1.57; 95%CI 1.45–1.69, P = 3.84 × 10−31) and serum triglycerides (TG) (β = 0.067, P = 4.5 × 10−21). These associations were validated in the cross-sectional study (P

Published
2017
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8. A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation

Author

Kaustubh Adhikari, Macarena Fuentes-Guajardo, Mirsha Quinto-Sánchez, Javier Mendoza-Revilla, Juan Camilo Chacón-Duque, Victor Acuña-Alonzo, Claudia Jaramillo, William Arias, Rodrigo Barquera Lozano, Gastón Macín Pérez, Jorge Gómez-Valdés, Hugo Villamil-Ramírez, Tábita Hunemeier, Virginia Ramallo, Caio C. Silva de Cerqueira, Malena Hurtado, Valeria Villegas, Vanessa Granja, Carla Gallo, Giovanni Poletti, Lavinia Schuler-Faccini, Francisco M. Salzano, Maria- Cátira Bortolini, Samuel Canizales-Quinteros, Michael Cheeseman, Javier Rosique, Gabriel Bedoya, Francisco Rothhammer, Denis Headon, Rolando González-José, David Balding, and Andrés Ruiz-Linares

Subjects
Science
Abstract

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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9. A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features

Author

Kaustubh Adhikari, Tania Fontanil, Santiago Cal, Javier Mendoza-Revilla, Macarena Fuentes-Guajardo, Juan-Camilo Chacón-Duque, Farah Al-Saadi, Jeanette A. Johansson, Mirsha Quinto-Sanchez, Victor Acuña-Alonzo, Claudia Jaramillo, William Arias, Rodrigo Barquera Lozano, Gastón Macín Pérez, Jorge Gómez-Valdés, Hugo Villamil-Ramírez, Tábita Hunemeier, Virginia Ramallo, Caio C. Silva de Cerqueira, Malena Hurtado, Valeria Villegas, Vanessa Granja, Carla Gallo, Giovanni Poletti, Lavinia Schuler-Faccini, Francisco M. Salzano, Maria-Cátira Bortolini, Samuel Canizales-Quinteros, Francisco Rothhammer, Gabriel Bedoya, Rolando Gonzalez-José, Denis Headon, Carlos López-Otín, Desmond J. Tobin, David Balding, and Andrés Ruiz-Linares

Subjects
Science
Abstract

By examining Latin American individuals of mixed European, Native American and African ancestry, Adhikari et al. identify novel loci influencing various features of facial and scalp hair. The study also provides experimental evidence that one of the implicated genes (PRSS53) is expressed in the hair follicle and that the top associated variant alters processing of this enzyme.

Published
2016
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10. Demographic history and biologically relevant genetic variation of Native Mexicans inferred from whole-genome sequencing

Author

Victor Acuña-Alonzo, Ángeles Granados-Silvestre, Fernando Pérez-Villatoro, Rodrigo García-Herrera, Enrique Morett, Fernando Riveros-McKay, Julio Granados, Gastón Macín-Pérez, Juan Carlos Fernández-López, Fernando Guerrero-Romero, Enrique Hernández-Lemus, Adrián Ochoa-Leyva, Samuel Canizales-Quinteros, Hugo Villamil-Ramírez, Martha Balcazar-Quintero, Humberto García-Ortiz, Fernanda Cornejo-Granados, Xavier Soberón, Rodrigo Barquera-Lozano, Lorena Orozco, Javier Rivera-Morales, Marisela Villalobos-Comparán, Erika Antúnez-Argüelles, Paola León-Mimila, Alejandro Garciarrubio, Teresa Villarreal-Molina, Angélica Martínez-Hernández, Marta Menjivar, Alessandra Carnevale, Guadalupe Ortíz-López, and Sandra Romero-Hidalgo

Subjects
0301 basic medicine, Time Factors, Genotype, Demographic history, Human Migration, Science, General Physics and Astronomy, Biology, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, Effective population size, Gene Frequency, Genetic variation, Ethnicity, Humans, lcsh:Science, Mexico, Whole genome sequencing, Multidisciplinary, Models, Genetic, Genome, Human, Genetic Variation, General Chemistry, Genetic architecture, 030104 developmental biology, Genetics, Population, Evolutionary biology, Genetic structure, Human genome, lcsh:Q
Abstract

Understanding the genetic structure of Native American populations is important to clarify their diversity, demographic history, and to identify genetic factors relevant for biomedical traits. Here, we show a demographic history reconstruction from 12 Native American whole genomes belonging to six distinct ethnic groups representing the three main described genetic clusters of Mexico (Northern, Southern, and Maya). Effective population size estimates of all Native American groups remained below 2,000 individuals for up to 10,000 years ago. The proportion of missense variants predicted as damaging is higher for undescribed (~ 30%) than for previously reported variants (~ 15%). Several variants previously associated with biological traits are highly frequent in the Native American genomes. These findings suggest that the demographic and adaptive processes that occurred in these groups shaped their genetic architecture and could have implications in biological processes of the Native Americans and Mestizos of today., People of Mexico have diverse historical and genetic background. Here, Romero-Hidalgo and colleagues sequence whole genomes of Native Americans of Mexico, and show demographic history and genetic variation shared among subgroups of Native Americans.

Published
2017

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