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160 results on '"Villamil-Ramírez, Hugo"'

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

Author

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

Published
2023
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3. Genome-Wide Association Study Identifies a Functional SIDT2 Variant Associated With HDL-C (High-Density Lipoprotein Cholesterol) Levels and Premature Coronary Artery Disease

Author

León-Mimila, Paola, Villamil-Ramírez, Hugo, Macías-Kauffer, Luis R, Jacobo-Albavera, Leonor, López-Contreras, Blanca E, Posadas-Sánchez, Rosalinda, Posadas-Romero, Carlos, Romero-Hidalgo, Sandra, Morán-Ramos, Sofía, Domínguez-Pérez, Mayra, Olivares-Arevalo, Marisol, López-Montoya, Priscilla, Nieto-Guerra, Roberto, Acuña-Alonzo, Víctor, Macín-Pérez, Gastón, Barquera-Lozano, Rodrigo, Del-Río-Navarro, Blanca E, González-González, Israel, Campos-Pérez, Francisco, Gómez-Pérez, Francisco, Valdés, Victor J, Sampieri, Alicia, Reyes-García, Juan G, del C. Carrasco-Portugal, Miriam, Flores-Murrieta, Francisco J, Aguilar-Salinas, Carlos A, Vargas-Alarcón, Gilberto, Shih, Diana, Meikle, Peter J, Calkin, Anna C, Drew, Brian G, Vaca, Luis, Lusis, Aldons J, Huertas-Vazquez, Adriana, Villarreal-Molina, Teresa, and Canizales-Quinteros, Samuel

Subjects
Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Clinical Sciences, Heart Disease - Coronary Heart Disease, Human Genome, Heart Disease, Minority Health, Genetics, Atherosclerosis, Biotechnology, Clinical Research, Prevention, Cardiovascular, 2.1 Biological and endogenous factors, Adult, Age of Onset, Animals, Biomarkers, Case-Control Studies, Child, Cholesterol, HDL, Coronary Artery Disease, Disease Models, Animal, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, HEK293 Cells, Heart Disease Risk Factors, Humans, Hyperlipoproteinemia Type II, Male, Mendelian Randomization Analysis, Mexico, Mice, Middle Aged, Nucleotide Transport Proteins, Phenotype, Polymorphism, Single Nucleotide, Risk Assessment, cholesterol, coronary artery disease, dyslipidemias, genetics, genome, Cardiorespiratory Medicine and Haematology, Cardiovascular System & Hematology, Cardiovascular medicine and haematology, Clinical sciences
Abstract

ObjectiveLow HDL-C (high-density lipoprotein cholesterol) is the most frequent dyslipidemia in Mexicans, but few studies have examined the underlying genetic basis. Our purpose was to identify genetic variants associated with HDL-C levels and cardiovascular risk in the Mexican population.Approach and resultsA genome-wide association studies for HDL-C levels in 2335 Mexicans, identified four loci associated with genome-wide significance: CETP, ABCA1, LIPC, and SIDT2. The SIDT2 missense Val636Ile variant was associated with HDL-C levels and was replicated in 3 independent cohorts (P=5.9×10−18 in the conjoint analysis). The SIDT2/Val636Ile variant is more frequent in Native American and derived populations than in other ethnic groups. This variant was also associated with increased ApoA1 and glycerophospholipid serum levels, decreased LDL-C (low-density lipoprotein cholesterol) and ApoB levels, and a lower risk of premature CAD. Because SIDT2 was previously identified as a protein involved in sterol transport, we tested whether the SIDT2/Ile636 protein affected this function using an in vitro site-directed mutagenesis approach. The SIDT2/Ile636 protein showed increased uptake of the cholesterol analog dehydroergosterol, suggesting this variant affects function. Finally, liver transcriptome data from humans and the Hybrid Mouse Diversity Panel are consistent with the involvement of SIDT2 in lipid and lipoprotein metabolism.ConclusionsThis is the first genome-wide association study for HDL-C levels seeking associations with coronary artery disease in the Mexican population. Our findings provide new insight into the genetic architecture of HDL-C and highlight SIDT2 as a new player in cholesterol and lipoprotein metabolism in humans.

Published
2021

4. Influence of Genetic and Non-Genetic Risk Factors for Serum Uric Acid Levels and Hyperuricemia in Mexicans

Author

Rivera-Paredez, Berenice, Macías-Kauffer, Luis, Fernandez-Lopez, Juan Carlos, Villalobos-Comparán, Marisela, Martinez-Aguilar, Mayeli M, de la Cruz-Montoya, Aldo, Ramírez-Salazar, Eric G, Villamil-Ramírez, Hugo, Quiterio, Manuel, Ramírez-Palacios, Paula, Romero-Hidalgo, Sandra, Villarreal-Molina, María Teresa, Denova-Gutiérrez, Edgar, Flores, Yvonne N, Canizales-Quinteros, Samuel, Salmerón, Jorge, and Velázquez-Cruz, Rafael

Subjects
Epidemiology, Biomedical and Clinical Sciences, Health Sciences, Genetics, Obesity, Prevention, Nutrition, Aetiology, 2.1 Biological and endogenous factors, ATP Binding Cassette Transporter, Subfamily G, Member 2, Adolescent, Adult, Child, Female, Genome-Wide Association Study, Glucose Transport Proteins, Facilitative, Humans, Hyperuricemia, Male, Mexico, Middle Aged, Neoplasm Proteins, Polymorphism, Single Nucleotide, Uric Acid, Young Adult, Genome-Wide Association Studies, polymorphisms single nucleotide, ABCG2 gene, SLC2A9 gene, Mexican population, Food Sciences, Nutrition and Dietetics, Clinical sciences, Nutrition and dietetics, Public health
Abstract

Risk of hyperuricemia is modified by genetic and environmental factors. Our aim was to identify factors associated with serum uric acid levels and hyperuricemia in Mexicans. A pilot Genome-wide association study GWAS was performed in a subgroup of participants (n = 411) from the Health Workers Cohort Study (HWCS). Single nucleotide polymorphisms (SNPs) associated with serum uric acid levels were validated in all the HWCS participants (n = 1939) and replicated in independent children (n = 1080) and adult (n = 1073) case-control studies. The meta-analysis of the whole HWCS and replication samples identified three SLC2A9 SNPs: rs1014290 (p = 2.3 × 10-64), rs3775948 (p = 8.2 × 10-64) and rs11722228 (p = 1.1 × 10-17); and an ABCG2 missense SNP, rs2231142 (p = 1.0 × 10-18). Among the non-genetic factors identified, the visceral adiposity index, smoking, the metabolic syndrome and its components (waist circumference, blood pressure, glucose and hyperlipidemia) were associated with increased serum uric acid levels and hyperuricemia (p < 0.05). Among the female HWCS participants, the odds ratio for hyperuricemia was 1.24 (95% CI, 1.01-1.53) per unit increase in soft drink consumption. As reported in other studies, our findings indicate that diet, adiposity and genetic variation contribute to the elevated prevalence of hyperuricemia in Mexico.

Published
2019

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

Author

Palmal, Sagnik, Adhikari, Kaustubh, Mendoza-Revilla, Javier, Fuentes-Guajardo, Macarena, Silva de Cerqueira, Caio Cesar, Bonfante, Betty, Chacón-Duque, Juan Camilo, Sohail, Anood, Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Jaramillo, Claudia, Arias, William, Lozano, Rodrigo Barquera, Everardo-Martínez, Paola, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, Hünemeier, Tábita, Ramallo, Virginia, Parolin, Maria-Laura, Gonzalez-José, Rolando, Schüler-Faccini, Lavinia, Bortolini, Maria-Cátira, Acuña-Alonzo, Victor, Canizales-Quinteros, Samuel, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Rothhammer, Francisco, Balding, David, Faux, Pierre, and Ruiz-Linares, Andrés

Published
2021
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7. A higher bacterial inward BCAA transport driven by Faecalibacterium prausnitzii is associated with lower serum levels of BCAA in early adolescents

Author

Moran-Ramos, Sofia, Macias-Kauffer, Luis, López-Contreras, Blanca E., Villamil-Ramírez, Hugo, Ocampo-Medina, Elvira, León-Mimila, Paola, del Rio-Navarro, Blanca E., Granados-Portillo, Omar, Ibarra-Gonzalez, Isabel, Vela-Amieva, Marcela, Tovar, Armando R., Torres, Nimbe, Gomez-Perez, Francisco J., Aguilar-Salinas, Carlos, and Canizales-Quinteros, Samuel

Published
2021
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8. Association of PCSK1 and PPARG1 Allelic Variants with Obesity and Metabolic Syndrome in Mexican Adults

Author

Velazquez-Roman, Jorge, primary, Angulo-Zamudio, Uriel A., additional, Leon-Sicairos, Nidia, additional, Flores-Villaseñor, Hector, additional, Benitez-Baez, Miriam, additional, Espinoza-Salomón, Ana, additional, Karam-León, Alejandra, additional, Villamil-Ramírez, Hugo, additional, Canizales-Quinteros, Samuel, additional, Macías-Kauffer, Luis, additional, Monroy-Higuera, Jose, additional, Acosta-Smith, Erika, additional, and Canizalez-Roman, Adrian, additional

Published
2023
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9. A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia

Author

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

Published
2019
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10. A metagenomic study identifies a Prevotella copri enriched microbial profile associated with non‐alcoholic steatohepatitis in subjects with obesity

Author

Moran‐Ramos, Sofía, primary, Cerqueda‐García, Daniel, additional, López‐Contreras, Blanca, additional, Larrieta‐Carrasco, Elena, additional, Villamil‐Ramírez, Hugo, additional, Molina‐Cruz, Selene, additional, Torres, Nimbe, additional, Sánchez‐Tapia, Mónica, additional, Hernández‐Pando, Rogelio, additional, Aguilar‐Salinas, Carlos, additional, Villarreal‐Molina, Teresa, additional, and Canizales‐Quinteros, Samuel, additional

Published
2023
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11. 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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12. SFRP5 hepatic expression is associated with non-alcoholic liver disease in morbidly obese women

Author

Gutiérrez-Vidal, Roxana, Vega-Badillo, Joel, Reyes-Fermín, Laura M., Hernández-Pérez, Hugo A., Sánchez-Muñoz, Fausto, López-Álvarez, Guadalupe S., Larrieta-Carrasco, Elena, Fernández-Silva, Itzel, Méndez-Sánchez, Nahum, Tovar, Armando R., Villamil-Ramírez, Hugo, Mejía-Domínguez, Ana M., Villarreal-Molina, Teresa, Hernández-Pando, Rogelio, Campos-Pérez, Francisco, Aguilar-Salinas, Carlos A., and Canizales-Quinteros, Samuel

Published
2015
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13. A genetic risk score is associated with hepatic triglyceride content and non-alcoholic steatohepatitis in Mexicans with morbid obesity

Author

León-Mimila, Paola, Vega-Badillo, Joel, Gutiérrez-Vidal, Roxana, Villamil-Ramírez, Hugo, Villareal-Molina, Teresa, Larrieta-Carrasco, Elena, López-Contreras, Blanca E., Kauffer, Luis R. Macías, Maldonado-Pintado, Diana G., Méndez-Sánchez, Nahúm, Tovar, Armando R., Hernández-Pando, Rogelio, Velázquez-Cruz, Rafael, Campos-Pérez, Francisco, Aguilar-Salinas, Carlos A., and Canizales-Quinteros, Samuel

Published
2015
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14. Effect of the Melanocortin 4-Receptor Ile269Asn Mutation on Weight Loss Response to Dietary, Phentermine and Bariatric Surgery Interventions

Author

Salazar-Valencia, Itzel G., primary, Villamil-Ramírez, Hugo, additional, Barajas-Olmos, Francisco, additional, Guevara-Cruz, Martha, additional, Macias-Kauffer, Luis R., additional, García-Ortiz, Humberto, additional, Hernández-Vergara, Omar, additional, Díaz de Sandy-Galán, David Alberto, additional, León-Mimila, Paola, additional, Centeno-Cruz, Federico, additional, González-Salazar, Luis E., additional, Guizar-Heredia, Rocío, additional, Pichardo-Ontiveros, Edgar, additional, Jacobo-Albavera, Leonor, additional, Posadas-Sánchez, Rosalinda, additional, Vargas-Alarcón, Gilberto, additional, Velazquez-Cruz, Rafael, additional, Gutiérrez-Aguilar, Ruth, additional, Zerrweck, Carlos, additional, Rocha-González, Héctor Isaac, additional, Reyes-García, Juan Gerardo, additional, Carrasco-Portugal, Miriam del C., additional, Flores-Murrieta, Francisco Javier, additional, Tovar, Armando R., additional, Orozco, Lorena, additional, Villarreal-Molina, Teresa, additional, and Canizales-Quinteros, Samuel, additional

Published
2022
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15. A combined linkage and association strategy identifies a variant near the GSTP1 gene associated with BMI in the Mexican population

Author

Villamil-Ramírez, Hugo, León-Mimila, Paola, Macias-Kauffer, Luis R, Canizalez-Román, Adrián, Villalobos-Comparán, Marisela, León-Sicairos, Nidia, Vega-Badillo, Joel, Sánchez-Muñoz, Fausto, López-Contreras, Blanca, Morán-Ramos, Sofía, Villarreal-Molina, Teresa, Zurita, Luis C, Campos-Pérez, Francisco, Huertas-Vazquez, Adriana, Bojalil, Rafael, Romero-Hidalgo, Sandra, Aguilar-Salinas, Carlos A, and Canizales-Quinteros, Samuel

Published
2017
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16. Association of Gut Microbiota with Atherogenic Dyslipidemia, and Its Impact on Serum Lipid Levels after Bariatric Surgery

Author

López-Montoya, Priscilla, primary, Cerqueda-García, Daniel, additional, Rodríguez-Flores, Marcela, additional, López-Contreras, Blanca, additional, Villamil-Ramírez, Hugo, additional, Morán-Ramos, Sofía, additional, Molina-Cruz, Selene, additional, Rivera-Paredez, Berenice, additional, Antuna-Puente, Bárbara, additional, Velázquez-Cruz, Rafael, additional, Villarreal-Molina, Teresa, additional, and Canizales-Quinteros, Samuel, additional

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

Author

Mendoza-Revilla, Javier, Chacón-Duque, J. Camilo, Fuentes-Guajardo, Macarena, Ormond, Louise, Wang, Ke, Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Acuña-Alonzo, Victor, Jaramillo, Claudia, Arias, William, Barquera, Rodrigo, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, de Cerqueira, Caio C. Silva, Rivera, Keyla M. Badillo, Nieves-Colón, Maria A., Gignoux, Christopher R., Wojcik, Genevieve L., Moreno-Estrada, Andrés, Hünemeier, Tábita, Ramallo, Virginia, Schuler-Faccini, Lavinia, Gonzalez-José, Rolando, Bortolini, Maria-Cátira, Canizales-Quinteros, Samuel, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Rothhammer, Francisco, Balding, David, Fumagalli, Matteo, Adhikari, Kaustubh, Ruiz-Linares, Andrés, Hellenthal, Garrett, Mendoza-Revilla, Javier, Chacón-Duque, J. Camilo, Fuentes-Guajardo, Macarena, Ormond, Louise, Wang, Ke, Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Acuña-Alonzo, Victor, Jaramillo, Claudia, Arias, William, Barquera, Rodrigo, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, de Cerqueira, Caio C. Silva, Rivera, Keyla M. Badillo, Nieves-Colón, Maria A., Gignoux, Christopher R., Wojcik, Genevieve L., Moreno-Estrada, Andrés, Hünemeier, Tábita, Ramallo, Virginia, Schuler-Faccini, Lavinia, Gonzalez-José, Rolando, Bortolini, Maria-Cátira, Canizales-Quinteros, Samuel, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Rothhammer, Francisco, Balding, David, Fumagalli, Matteo, Adhikari, Kaustubh, Ruiz-Linares, Andrés, and Hellenthal, Garrett

Abstract

Throughout human evolutionary history, large-scale migrations have led to intermixing (i.e., admixture) between previously separated human groups. Although classical and recent work have shown that studying admixture can yield novel historical insights, the extent to which this process contributed to adaptation remains underexplored. Here, we introduce a novel statistical model, specific to admixed populations, that identifies loci under selection while determining whether the selection likely occurred post-admixture or prior to admixture in one of the ancestral source populations. Through extensive simulations, we show that this method is able to detect selection, even in recently formed admixed populations, and to accurately differentiate between selection occurring in the ancestral or admixed population. We apply this method to genome-wide SNP data of ∼4,000 individuals in five admixed Latin American cohorts from Brazil, Chile, Colombia, Mexico, and Peru. Our approach replicates previous reports of selection in the human leukocyte antigen region that are consistent with selection post-admixture. We also report novel signals of selection in genomic regions spanning 47 genes, reinforcing many of these signals with an alternative, commonly used local-ancestry-inference approach. These signals include several genes involved in immunity, which may reflect responses to endemic pathogens of the Americas and to the challenge of infectious disease brought by European contact. In addition, some of the strongest signals inferred to be under selection in the Native American ancestral groups of modern Latin Americans overlap with genes implicated in energy metabolism phenotypes, plausibly reflecting adaptations to novel dietary sources available in the Americas.

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

Author

Mendoza-Revilla, Javier, primary, Chacón-Duque, J. Camilo, additional, Fuentes-Guajardo, Macarena, additional, Ormond, Louise, additional, Wang, Ke, additional, Hurtado, Malena, additional, Villegas, Valeria, additional, Granja, Vanessa, additional, Acuña-Alonzo, Victor, additional, Jaramillo, Claudia, additional, Arias, William, additional, Barquera, Rodrigo, additional, Gómez-Valdés, Jorge, additional, Villamil-Ramírez, Hugo, additional, Silva de Cerqueira, Caio C., additional, Badillo Rivera, Keyla M., additional, Nieves-Colón, Maria A., additional, Gignoux, Christopher R., additional, Wojcik, Genevieve L., additional, Moreno-Estrada, Andrés, additional, Hünemeier, Tábita, additional, Ramallo, Virginia, additional, Schuler-Faccini, Lavinia, additional, Gonzalez-José, Rolando, additional, Bortolini, Maria-Cátira, additional, Canizales-Quinteros, Samuel, additional, Gallo, Carla, additional, Poletti, Giovanni, additional, Bedoya, Gabriel, additional, Rothhammer, Francisco, additional, Balding, David, additional, Fumagalli, Matteo, additional, Adhikari, Kaustubh, additional, Ruiz-Linares, Andrés, additional, and Hellenthal, Garrett, additional

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

Author

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

Published
2022
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20. PNPLA3 I148M polymorphism is associated with elevated alanine transaminase levels in Mexican Indigenous and Mestizo populations

Author

Larrieta-Carrasco, Elena, Acuña-Alonzo, Victor, Velázquez-Cruz, Rafael, Barquera-Lozano, Rodrigo, León-Mimila, Paola, Villamil-Ramírez, Hugo, Menjivar, Marta, Romero-Hidalgo, Sandra, Méndez-Sánchez, Nahúm, Cárdenas, Vanessa, Bañuelos-Moreno, Manuel, Flores, Yvonne N., Quiterio, Manuel, Salmerón, Jorge, Sánchez-Muñoz, Fausto, Villarreal-Molina, Teresa, Aguilar-Salinas, Carlos A., and Canizales-Quinteros, Samuel

Published
2014
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21. Association of R230C ABCA1 gene variant with low HDL-C levels and abnormal HDL subclass distribution in Mexican school-aged children

Author

Flores-Dorantes, Teresa, Arellano-Campos, Olimpia, Posadas-Sánchez, Rosalinda, Villarreal-Molina, Teresa, Medina-Urrutia, Aida, Romero-Hidalgo, Sandra, Yescas-Gómez, Petra, Pérez-Méndez, Oscar, Jorge-Galarza, Esteban, Tusié-Luna, Teresa, Villalobos-Comparán, Marisela, Jacobo-Albavera, Leonor, Villamil-Ramírez, Hugo, López-Contreras, Blanca E., Aguilar-Salinas, Carlos A., Posadas-Romero, Carlos, and Canizales-Quinteros, Samuel

Published
2010
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22. Disentangling signatures of selection before and after European colonization in Latin Americans

Author

Mendoza-Revilla, Javier, primary, Chacón-Duque, Juan Camilo, additional, Fuentes-Guajardo, Macarena, additional, Ormond, Louise, additional, Wang, Ke, additional, Hurtado, Malena, additional, Villegas, Valeria, additional, Granja, Vanessa, additional, Acuña-Alonzo, Victor, additional, Jaramillo, Claudia, additional, Arias, William, additional, Lozano, Rodrigo Barquera, additional, Gómez-Valdés, Jorge, additional, Villamil-Ramírez, Hugo, additional, Silva de Cerqueira, Caio C., additional, Badillo Rivera, Keyla M., additional, Nieves-Colón, Maria A., additional, Gignoux, Christopher R., additional, Wojcik, Genevieve L., additional, Moreno-Estrada, Andrés, additional, Hunemeier, Tábita, additional, Ramallo, Virginia, additional, Schuler-Faccini, Lavinia, additional, Gonzalez-José, Rolando, additional, Bortolini, Maria-Cátira, additional, Canizales-Quinteros, Samuel, additional, Gallo, Carla, additional, Poletti, Giovanni, additional, Bedoya, Gabriel, additional, Rothhammer, Francisco, additional, Balding, David, additional, Fumagalli, Matteo, additional, Adhikari, Kaustubh, additional, Ruiz-Linares, Andrés, additional, and Hellenthal, Garrett, additional

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

Author

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

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

Author

Palmal, Sagnik, primary, Adhikari, Kaustubh, additional, Mendoza-Revilla, Javier, additional, Fuentes-Guajardo, Macarena, additional, de Cerqueira, Caio C. Silva, additional, Chacón-Duque, Juan Camilo, additional, Sohail, Anood, additional, Hurtado, Malena, additional, Villegas, Valeria, additional, Granja, Vanessa, additional, Jaramillo, Claudia, additional, Arias, William, additional, Lozano, Rodrigo Barquera, additional, Everardo-Martínez, Paola, additional, Gómez-Valdés, Jorge, additional, Villamil-Ramírez, Hugo, additional, Hünemeier, Tábita, additional, Ramallo, Virginia, additional, Gonzalez-José, Rolando, additional, Schüler-Faccini, Lavinia, additional, Bortolini, Maria-Cátira, additional, Acuña-Alonzo, Victor, additional, Canizales-Quinteros, Samuel, additional, Gallo, Carla, additional, Poletti, Giovanni, additional, Bedoya, Gabriel, additional, Rothhammer, Francisco, additional, Balding, David, additional, Faux, Pierre, additional, and Ruiz-Linares, Andrés, additional

Published
2020
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25. A functional variant of the SIDT2 gene involved in cholesterol transport is associated with HDL-C levels and premature coronary artery disease

Author

León-Mimila, Paola, primary, Villamil-Ramírez, Hugo, additional, Macias-Kauffer, Luis R., additional, Jacobo-Albavera, Leonor, additional, López-Contreras, Blanca E., additional, Posadas-Sánchez, Rosalinda, additional, Posadas-Romero, Carlos, additional, Romero-Hidalgo, Sandra, additional, Morán-Ramos, Sofía, additional, Domínguez-Pérez, Mayra, additional, Olivares-Arevalo, Marisol, additional, Lopez-Montoya, Priscilla, additional, Nieto-Guerra, Roberto, additional, Acuña-Alonzo, Víctor, additional, Macín-Pérez, Gastón, additional, Barquera-Lozano, Rodrigo, additional, del Río-Navarro, Blanca E., additional, González-González, Israel, additional, Campos-Pérez, Francisco, additional, Gómez-Pérez, Francisco, additional, Valdés, Victor J., additional, Sampieri, Alicia, additional, Reyes-García, Juan G., additional, Carrasco-Portugal, Miriam del C., additional, Flores-Murrieta, Francisco J., additional, Aguilar-Salinas, Carlos A., additional, Vargas-Alarcón, Gilberto, additional, Shih, Diana, additional, Meikle, Peter J., additional, Calkin, Anna C., additional, Drew, Brian G., additional, Vaca, Luis, additional, Lusis, Aldons J., additional, Huertas-Vazquez, Adriana, additional, Villarreal-Molina, Teresa, additional, and Canizales-Quinteros, Samuel, additional

Published
2020
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26. A functional ABCA1 gene variant is associated with low HDL-cholesterol levels and shows evidence of positive selection in Native Americans

Author

Acuña-Alonzo, Víctor, Flores-Dorantes, Teresa, Kruit, Janine K., Villarreal-Molina, Teresa, Arellano-Campos, Olimpia, Hünemeier, Tábita, Moreno-Estrada, Andrés, Ortiz-López, Ma Guadalupe, Villamil-Ramírez, Hugo, León-Mimila, Paola, Villalobos-Comparan, Marisela, Jacobo-Albavera, Leonor, Ramírez-Jiménez, Salvador, Sikora, Martin, Zhang, Lin-Hua, Pape, Terry D., Granados-Silvestre, Ma de, Montufar-Robles, Isela, Tito-Alvarez, Ana M., Zurita-Salinas, Camilo, Bustos-Arriaga, José, Cedillo-Barrón, Leticia, Gómez-Trejo, Celta, Barquera-Lozano, Rodrigo, Vieira-Filho, Joao P., Granados, Julio, Romero-Hidalgo, Sandra, Huertas-Vázquez, Adriana, González-Martín, Antonio, Gorostiza, Amaya, Bonatto, Sandro L., Rodríguez-Cruz, Maricela, Wang, Li, Tusié-Luna, Teresa, Aguilar-Salinas, Carlos A., Lisker, Ruben, Moises, Regina S., Menjivar, Marta, Salzano, Francisco M., Knowler, William C., Bortolini, M. Cátira, Hayden, Michael R., Baier, Leslie J., and Canizales-Quinteros, Samuel

Published
2010
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27. Landscape of Intercellular Crosstalk in Healthy and NASH Liver Revealed by Single-Cell Secretome Gene Analysis

Author

Xiong, Xuelian, primary, Kuang, Henry, additional, Ansari, Sahar, additional, Liu, Tongyu, additional, Gong, Jianke, additional, Wang, Shuai, additional, Zhao, Xu-Yun, additional, Ji, Yewei, additional, Li, Chuan, additional, Guo, Liang, additional, Zhou, Linkang, additional, Chen, Zhimin, additional, Leon-Mimila, Paola, additional, Chung, Meng Ting, additional, Kurabayashi, Katsuo, additional, Opp, Judy, additional, Campos-Pérez, Francisco, additional, Villamil-Ramírez, Hugo, additional, Canizales-Quinteros, Samuel, additional, Lyons, Robert, additional, Lumeng, Carey N., additional, Zhou, Beiyan, additional, Qi, Ling, additional, Huertas-Vazquez, Adriana, additional, Lusis, Aldons J., additional, Xu, X.Z. Shawn, additional, Li, Siming, additional, Yu, Yonghao, additional, Li, Jun Z., additional, and Lin, Jiandie D., additional

Published
2019
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28. Genetic contributors to serum uric acid levels in Mexicans and their effect on premature coronary artery disease

Author

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

Published
2019
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29. Genome-Wide Association Study Identifies a Functional SIDT2Variant Associated With HDL-C (High-Density Lipoprotein Cholesterol) Levels and Premature Coronary Artery Disease

Author

León-Mimila, Paola, Villamil-Ramírez, Hugo, Macías-Kauffer, Luis R., Jacobo-Albavera, Leonor, López-Contreras, Blanca E., Posadas-Sánchez, Rosalinda, Posadas-Romero, Carlos, Romero-Hidalgo, Sandra, Morán-Ramos, Sofía, Domínguez-Pérez, Mayra, Olivares-Arevalo, Marisol, López-Montoya, Priscilla, Nieto-Guerra, Roberto, Acuña-Alonzo, Víctor, Macín-Pérez, Gastón, Barquera-Lozano, Rodrigo, Del-Río-Navarro, Blanca E., González-González, Israel, Campos-Pérez, Francisco, Gómez-Pérez, Francisco, Valdés, Victor J., Sampieri, Alicia, Reyes-García, Juan G., Carrasco-Portugal, Miriam del C., Flores-Murrieta, Francisco J., Aguilar-Salinas, Carlos A., Vargas-Alarcón, Gilberto, Shih, Diana, Meikle, Peter J., Calkin, Anna C., Drew, Brian G., Vaca, Luis, Lusis, Aldons J., Huertas-Vazquez, Adriana, Villarreal-Molina, Teresa, and Canizales-Quinteros, Samuel

Abstract

Supplemental Digital Content is available in the text.

Published
2021
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30. Additional file 1: of Interaction between FTO rs9939609 and the Native American-origin ABCA1 rs9282541 affects BMI in the admixed Mexican population

Author

Villalobos-Comparán, Marisela, Antuna-Puente, Bárbara, Villarreal-Molina, María, Canizales-Quinteros, Samuel, Velázquez-Cruz, Rafael, León-Mimila, Paola, Villamil-Ramírez, Hugo, González-Barrios, Juan, Merino-García, José, Thompson-Bonilla, María, Jarquin, Diego, Sánchez-Hernández, Osvaldo, Rodríguez-Arellano, Martha, Posadas-Romero, Carlos, Vargas-Alarcón, Gilberto, Campos-Pérez, Francisco, Quiterio, Manuel, Salmerón-Castro, Jorge, Carnevale, Alessandra, and Romero-Hidalgo, Sandra

Abstract

Panels of ancestry informative markers used for each cohort [18]. (DOC 30 kb)

Published
2017
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31. Low Salivary Amylase Gene (AMY1) Copy Number Is Associated with Obesity and Gut Prevotella Abundance in Mexican Children and Adults

Author

León-Mimila, Paola, primary, Villamil-Ramírez, Hugo, additional, López-Contreras, Blanca, additional, Morán-Ramos, Sofía, additional, Macias-Kauffer, Luis, additional, Acuña-Alonzo, Víctor, additional, del Río-Navarro, Blanca, additional, Salmerón, Jorge, additional, Velazquez-Cruz, Rafael, additional, Villarreal-Molina, Teresa, additional, Aguilar-Salinas, Carlos, additional, and Canizales-Quinteros, Samuel, additional

Published
2018
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32. 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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33. 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

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

Author

Adhikari, Kaustubh, Fontanil, Tania, Cal, Santiago, Mendoza-Revilla, Javier, Fuentes-Guajardo, Macarena, Chacón-Duque, Juan-Camilo, Al-Saadi, Farah, Johansson, Jeanette A., Quinto-Sanchez, Mirsha, Acuña-Alonzo, Victor, Jaramillo, Claudia, Arias, William, Barquera Lozano, Rodrigo, Macín Pérez, Gastón, 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, Rothhammer, Francisco, Bedoya, Gabriel, Gonzalez-José, Rolando, Headon, Denis, López-Otín, Carlos, Tobin, Desmond J., Balding, David, and Ruiz-Linares, Andrés

Subjects
Male, Science, Otras Ciencias Biológicas, purl.org/pe-repo/ocde/ford#1.06.03 [https], purl.org/pe-repo/ocde/ford#1.03.00 [https], Article, purl.org/becyt/ford/1 [https], Ciencias Biológicas, Scalp/physiology, Humans, purl.org/becyt/ford/1.6 [https], Scalp, integumentary system, Continental Population Groups, Gene Expression Regulation/physiology, Racial Groups, population genetics, Genetic Variation, Face/physiology, Gene Expression Regulation, Face, genome-wide association studies, purl.org/pe-repo/ocde/ford#1.04.00 [https], Female, sense organs, CIENCIAS NATURALES Y EXACTAS, Hair, Genome-Wide Association Study, Hair/growth & development
Abstract

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 association reaching genome-wide significance (P values 5 × 10−8 to 3 × 10−119), including 10 novel associations. These include novel loci for scalp hair shape and balding, and the first reported loci for hair greying, monobrow, eyebrow and beard thickness. A newly identified locus influencing hair shape includes a Q30R substitution in the Protease Serine S1 family member 53 (PRSS53). We demonstrate that this enzyme is highly expressed in the hair follicle, especially the inner root sheath, and that the Q30R substitution affects enzyme processing and secretion. The genome regions associated with hair features are enriched for signals of selection, consistent with proposals regarding the evolution of human hair., 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

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

Author

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

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

Author

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

Published
2017
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37. Interaction between FTO rs9939609 and the Native American-origin ABCA1 rs9282541 affects BMI in the admixed Mexican population

Author

Villalobos-Comparán, Marisela, primary, Antuna-Puente, Bárbara, additional, Villarreal-Molina, María Teresa, additional, Canizales-Quinteros, Samuel, additional, Velázquez-Cruz, Rafael, additional, León-Mimila, Paola, additional, Villamil-Ramírez, Hugo, additional, González-Barrios, Juan Antonio, additional, Merino-García, José Luis, additional, Thompson-Bonilla, María Rocío, additional, Jarquin, Diego, additional, Sánchez-Hernández, Osvaldo Erik, additional, Rodríguez-Arellano, Martha Eunice, additional, Posadas-Romero, Carlos, additional, Vargas-Alarcón, Gilberto, additional, Campos-Pérez, Francisco, additional, Quiterio, Manuel, additional, Salmerón-Castro, Jorge, additional, Carnevale, Alessandra, additional, and Romero-Hidalgo, Sandra, additional

Published
2017
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38. A genome-wide association study identifies multiple loci for variation in human ear morphology

Author

Adhikari, Kaustubh, Reales, Guillermo, Smith, Andrew J. P., Konka, Esra, Palmen, Jutta, Quinto-Sanchez, Mirsha, Acuña-Alonzo, Victor, Jaramillo, Claudia, Arias, William, Fuentes, Macarena, Pizarro, María, Barquera Lozano, Rodrigo, Macín Pérez, Gastón, 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, Rothhammer, Francisco, Bedoya, Gabriel, Calderón, Rosario, Rosique, Javier, Cheeseman, Michael, Bhutta, Mahmood F., Humphries, Steve E., Gonzalez-José, Rolando, Headon, Denis, Balding, David, and Ruiz-Linares, Andrés

Subjects
Adult, Male, Adolescent, Genotype, purl.org/pe-repo/ocde/ford#1.06.03 [https], purl.org/pe-repo/ocde/ford#1.03.00 [https], Polymorphism, Single Nucleotide, Article, White People, Ciencias Biológicas, purl.org/becyt/ford/1 [https], Genética y Herencia, Mice, Young Adult, Cell Line, Tumor, Morphogenesis, Homeodomain Proteins/metabolism, Animals, Humans, European Continental Ancestry Group/genetics, purl.org/becyt/ford/1.6 [https], American Indian or Alaska Native, T-Box Domain Proteins/genetics/metabolism, pinna morphology, Homeodomain Proteins, American Native Continental Ancestry Group/genetics, Edar Receptor, Morphogenesis/genetics, EDAR, Edar Receptor/genetics, Latin America, Phenotype, Ear Auricle/anatomy & histology/embryology, purl.org/pe-repo/ocde/ford#1.04.00 [https], genome-wide association, Female, T-Box Domain Proteins, CIENCIAS NATURALES Y EXACTAS, Ear Auricle, Genome-Wide Association Study
Abstract

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, folding of antihelix, helix rolling, ear protrusion and antitragus size (linear regression P values 2 × 10−8 to 3 × 10−14). Four traits are associated with a functional variant in the Ectodysplasin A receptor (EDAR) gene, a key regulator of embryonic skin appendage development. We confirm expression of Edar in the developing mouse ear and that Edar-deficient mice have an abnormally shaped pinna. Two traits are associated with SNPs in a region overlapping the T-Box Protein 15 (TBX15) gene, a major determinant of mouse skeletal development. Strongest association in this region is observed for SNP rs17023457 located in an evolutionarily conserved binding site for the transcription factor Cartilage paired-class homeoprotein 1 (CART1), and we confirm that rs17023457 alters in vitro binding of CART1., The shape of the pinna varies widely in the general human population but the genetic basis of this variation is unknown. Here Adhikari et al. conduct a genome-wide association study in Latin Americans and discover seven gene regions influencing pinna morphology, including EDAR and TBX15.

Published
2015

39. A combined linkage and association strategy identifies a variant near the GSTP1 gene associated with BMI in the Mexican population

Author

Villamil-Ramírez, Hugo, primary, León-Mimila, Paola, additional, Macias-Kauffer, Luis R, additional, Canizalez-Román, Adrián, additional, Villalobos-Comparán, Marisela, additional, León-Sicairos, Nidia, additional, Vega-Badillo, Joel, additional, Sánchez-Muñoz, Fausto, additional, López-Contreras, Blanca, additional, Morán-Ramos, Sofía, additional, Villarreal-Molina, Teresa, additional, Zurita, Luis C, additional, Campos-Pérez, Francisco, additional, Huertas-Vazquez, Adriana, additional, Bojalil, Rafael, additional, Romero-Hidalgo, Sandra, additional, Aguilar-Salinas, Carlos A, additional, and Canizales-Quinteros, Samuel, additional

Published
2016
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40. Hepatic miR-33a/miR-144 and their target gene ABCA1 are associated with steatohepatitis in morbidly obese subjects

Author

Vega-Badillo, Joel, primary, Gutiérrez-Vidal, Roxana, additional, Hernández-Pérez, Hugo A., additional, Villamil-Ramírez, Hugo, additional, León-Mimila, Paola, additional, Sánchez-Muñoz, Fausto, additional, Morán-Ramos, Sofía, additional, Larrieta-Carrasco, Elena, additional, Fernández-Silva, Itzel, additional, Méndez-Sánchez, Nahúm, additional, Tovar, Armando R., additional, Campos-Pérez, Francisco, additional, Villarreal-Molina, Teresa, additional, Hernández-Pando, Rogelio, additional, Aguilar-Salinas, Carlos A., additional, and Canizales-Quinteros, Samuel, additional

Published
2016
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41. Contribution of Common Genetic Variants to Obesity and Obesity-Related Traits in Mexican Children and Adults

Author

León-Mimila, Paola, primary, Villamil-Ramírez, Hugo, additional, Villalobos-Comparán, Marisela, additional, Villarreal-Molina, Teresa, additional, Romero-Hidalgo, Sandra, additional, López-Contreras, Blanca, additional, Gutiérrez-Vidal, Roxana, additional, Vega-Badillo, Joel, additional, Jacobo-Albavera, Leonor, additional, Posadas-Romeros, Carlos, additional, Canizalez-Román, Adrián, additional, Río-Navarro, Blanca Del, additional, Campos-Pérez, Francisco, additional, Acuña-Alonzo, Victor, additional, Aguilar-Salinas, Carlos, additional, and Canizales-Quinteros, Samuel, additional

Published
2013
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42. Association of the I148M/PNPLA3 variant with elevated alanine transaminase levels in normal-weight and overweight/obese Mexican children

Author

Larrieta-Carrasco, Elena, primary, León-Mimila, Paola, additional, Villarreal-Molina, Teresa, additional, Villamil-Ramírez, Hugo, additional, Romero-Hidalgo, Sandra, additional, Jacobo-Albavera, Leonor, additional, Gutiérrez-Vidal, Roxana, additional, López-Contreras, Blanca E., additional, Guillén-Pineda, Luz E., additional, Sánchez-Muñoz, Fausto, additional, Bojalil, Rafael, additional, Mejía-Domínguez, Ana M., additional, Méndez-Sánchez, Nahúm, additional, Domínguez-López, Aaron, additional, Aguilar-Salinas, Carlos A., additional, and Canizales-Quinteros, Samuel, additional

Published
2013
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43. VNN1 Gene Expression Levels and the G-137T Polymorphism Are Associated with HDL-C Levels in Mexican Prepubertal Children

Author

Jacobo-Albavera, Leonor, primary, Aguayo-de la Rosa, Pablo I., additional, Villarreal-Molina, Teresa, additional, Villamil-Ramírez, Hugo, additional, León-Mimila, Paola, additional, Romero-Hidalgo, Sandra, additional, López-Contreras, Blanca E., additional, Sánchez-Muñoz, Fausto, additional, Bojalil, Rafael, additional, González-Barrios, Juan Antonio, additional, Aguilar-Salinas, Carlos A., additional, and Canizales-Quinteros, Samuel, additional

Published
2012
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44. PCSK1 rs6232 Is Associated with Childhood and Adult Class III Obesity in the Mexican Population

Author

Villalobos-Comparán, Marisela, primary, Villamil-Ramírez, Hugo, additional, Villarreal-Molina, Teresa, additional, Larrieta-Carrasco, Elena, additional, León-Mimila, Paola, additional, Romero-Hidalgo, Sandra, additional, Jacobo-Albavera, Leonor, additional, Liceaga-Fuentes, Adriana E., additional, Campos-Pérez, Francisco J., additional, López-Contreras, Blanca E., additional, Tusié-Luna, Teresa, additional, del Río-Navarro, Blanca E., additional, Aguilar-Salinas, Carlos A., additional, and Canizales-Quinteros, Samuel, additional

Published
2012
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45. A combined linkage and association strategy identifies a variant near the GSTP1gene associated with BMI in the Mexican population

Author

Villamil-Ramírez, Hugo, León-Mimila, Paola, Macias-Kauffer, Luis R, Canizalez-Román, Adrián, Villalobos-Comparán, Marisela, León-Sicairos, Nidia, Vega-Badillo, Joel, Sánchez-Muñoz, Fausto, López-Contreras, Blanca, Morán-Ramos, Sofía, Villarreal-Molina, Teresa, Zurita, Luis C, Campos-Pérez, Francisco, Huertas-Vazquez, Adriana, Bojalil, Rafael, Romero-Hidalgo, Sandra, Aguilar-Salinas, Carlos A, and Canizales-Quinteros, Samuel

Abstract

Obesity is a major public health concern in Mexico and worldwide. Although the estimated heritability is high, common variants identified by genome-wide association studies explain only a small proportion of this heritability. A combination of linkage and association strategies could be a more robust and powerful approach to identify other obesity-susceptibility variants. We thus sought to identify novel genetic variants associated with obesity-related traits in the Mexican population by combining these methods. We performed a genome-wide linkage scan for body mass index (BMI) and other obesity-related phenotypes in 16 Mexican families using the Sequential Oligogenic Linkage Analysis Routines Program. Associated single-nucleotide polymorphisms (SNPs) were tested for associations in an independent cohort. Two suggestive BMI-linkage peaks (logarithm of odds ⩾1.5) were observed at chromosomal regions 11q13 and 13q22. Only rs614080 in the 11q13 region was significantly associated with BMI and related traits in these families. This association was also significant in an independent cohort of Mexican adults. Moreover, this variant was significantly associated with GSTP1gene expression levels in adipose tissue. In conclusion, the rs614080 SNP near the GSTP1gene was significantly associated with BMI and GSTP1expression levels in the Mexican population.

Published
2017
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47. Prediction of eye, hair and skin colour in Latin Americans

Author

Palmal, Sagnik, Adhikari, Kaustubh, Mendoza-Revilla, Javier, Fuentes-Guajardo, Macarena, Silva de Cerqueira, Caio C., Bonfante, Betty, Chacón-Duque, Juan Camilo, Sohail, Anood, Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Jaramillo, Claudia, Arias, William, Lozano, Rodrigo Barquera, Everardo-Martínez, Paola, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, Hünemeier, Tábita, Ramallo, Virginia, Parolin, Maria-Laura, Gonzalez-José, Rolando, Schüler-Faccini, Lavinia, Bortolini, Maria-Cátira, Acuña-Alonzo, Victor, Canizales-Quinteros, Samuel, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Rothhammer, Francisco, Balding, David, Faux, Pierre, Ruiz-Linares, Andrés, Palmal, Sagnik, Adhikari, Kaustubh, Mendoza-Revilla, Javier, Fuentes-Guajardo, Macarena, Silva de Cerqueira, Caio C., Bonfante, Betty, Chacón-Duque, Juan Camilo, Sohail, Anood, Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Jaramillo, Claudia, Arias, William, Lozano, Rodrigo Barquera, Everardo-Martínez, Paola, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, Hünemeier, Tábita, Ramallo, Virginia, Parolin, Maria-Laura, Gonzalez-José, Rolando, Schüler-Faccini, Lavinia, Bortolini, Maria-Cátira, Acuña-Alonzo, Victor, Canizales-Quinteros, Samuel, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Rothhammer, Francisco, Balding, David, Faux, Pierre, and Ruiz-Linares, Andrés

Abstract

Here we evaluate the accuracy of prediction for eye, hair and skin pigmentation in a dataset of > 6,500 individuals from Mexico, Colombia, Peru, Chile and Brazil (including genome-wide SNP data and quantitative/categorical pigmentation phenotypes - the CANDELA dataset CAN). We evaluated accuracy in relation to different analytical methods and various phenotypic predictors. As expected from statistical principles, we observe that quantitative traits are more sensitive to changes in the prediction models than categorical traits. We find that Random Forest or Linear Regression are generally the best performing methods. We also compare the prediction accuracy of SNP sets defined in the CAN dataset (including 56, 101 and 120 SNPs for eye, hair and skin colour prediction, respectively) to the well-established HIrisPlex-S SNP set (including 6, 22 and 36 SNPs for eye, hair and skin colour prediction respectively). When training prediction models on the CAN data, we observe remarkably similar performances for HIrisPlex-S and the larger CAN SNP sets for the prediction of hair (categorical) and eye (both categorical and quantitative), while the CAN sets outperform HIrisPlex-S for quantitative, but not for categorical skin pigmentation prediction. The performance of HIrisPlex-S, when models are trained in a world-wide sample (although consisting of 80% Europeans, https://hirisplex.erasmusmc.nl), is lower relative to training in the CAN data (particularly for hair and skin colour). Altogether, our observations are consistent with common variation of eye and hair colour having a relatively simple genetic architecture, which is well captured by HIrisPlex-S, even in admixed Latin Americans (with partial European ancestry). By contrast, since skin pigmentation is a more polygenic trait, accuracy is more sensitive to prediction SNP set size, although here this effect was only apparent for a quantitative measure of skin pigmentation. Our results support the use of HIrisPlex-S in the p

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

Author

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, Carla, 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, 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, Carla, 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, and Ruiz-Linares, Andrés

Abstract

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 photographs and ~9,000,000 genotyped or imputed single-nucleotide polymorphisms. We detected significant association of 32 traits with at least 1 (and up to 6) of 32 different genomic regions, more than doubling the number of robustly associated face morphology loci reported until now (from 11 to 23). These GWAS hits are strongly enriched in regulatory sequences active specifically during craniofacial development. The associated region in 1p12 includes a tract of archaic adaptive introgression, with a Denisovan haplotype common in Native Americans affecting particularly lip thickness. Among the nine previously unidentified face morphology loci we identified is the VPS13B gene region, and we show that variants in this region also affect midfacial morphology in mice.

49. A genome-wide association study identifies multiple loci for variation in human ear morphology

Author

Adhikari, Kaustubh, Reales, Guillermo, Smith, Andrew J. P., Konka, Esra, Palmen, Jutta, Quinto-Sanchez, Mirsha, Acuña-Alonzo, Victor, Jaramillo, Claudia, Arias, William, Fuentes, Macarena, Pizarro, María, Barquera Lozano, Rodrigo, Macín Pérez, Gastón, 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, Rothhammer, Francisco, Bedoya, Gabriel, Calderón, Rosario, Rosique, Javier, Cheeseman, Michael, Bhutta, Mahmood F., Humphries, Steve E., Gonzalez-José, Rolando, Headon, Denis, Balding, David, Ruiz-Linares, Andrés, Adhikari, Kaustubh, Reales, Guillermo, Smith, Andrew J. P., Konka, Esra, Palmen, Jutta, Quinto-Sanchez, Mirsha, Acuña-Alonzo, Victor, Jaramillo, Claudia, Arias, William, Fuentes, Macarena, Pizarro, María, Barquera Lozano, Rodrigo, Macín Pérez, Gastón, 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, Rothhammer, Francisco, Bedoya, Gabriel, Calderón, Rosario, Rosique, Javier, Cheeseman, Michael, Bhutta, Mahmood F., Humphries, Steve E., Gonzalez-José, Rolando, Headon, Denis, Balding, David, and Ruiz-Linares, Andrés

Abstract

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, folding of antihelix, helix rolling, ear protrusion and antitragus size (linear regression P values 2 × 10−8 to 3 × 10−14). Four traits are associated with a functional variant in the Ectodysplasin A receptor (EDAR) gene, a key regulator of embryonic skin appendage development. We confirm expression of Edar in the developing mouse ear and that Edar-deficient mice have an abnormally shaped pinna. Two traits are associated with SNPs in a region overlapping the T-Box Protein 15 (TBX15) gene, a major determinant of mouse skeletal development. Strongest association in this region is observed for SNP rs17023457 located in an evolutionarily conserved binding site for the transcription factor Cartilage paired-class homeoprotein 1 (CART1), and we confirm that rs17023457 alters in vitro binding of CART1.

50. 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.

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