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483 results on '"Gallo, Carla"'

1. Exploring the genetics of lithium response in bipolar disorders

Author

Herrera-Rivero, Marisol, Adli, Mazda, Akiyama, Kazufumi, Akula, Nirmala, Amare, Azmeraw T., Ardau, Raffaella, Arias, Bárbara, Aubry, Jean-Michel, Backlund, Lena, Bellivier, Frank, Benabarre, Antonio, Bengesser, Susanne, Bhattacharjee, Abesh Kumar, Biernacka, Joanna M., Birner, Armin, Cearns, Micah, Cervantes, Pablo, Chen, Hsi-Chung, Chillotti, Caterina, Cichon, Sven, Clark, Scott R., Colom, Francesc, Cruceanu, Cristiana, Czerski, Piotr M., Dalkner, Nina, Degenhardt, Franziska, Del Zompo, Maria, DePaulo, J. Raymond, Etain, Bruno, Falkai, Peter, Ferensztajn-Rochowiak, Ewa, Forstner, Andreas J., Frank, Josef, Frisén, Louise, Frye, Mark A., Fullerton, Janice M., Gallo, Carla, Gard, Sébastien, Garnham, Julie S., Goes, Fernando S., Grigoroiu-Serbanescu, Maria, Grof, Paul, Hashimoto, Ryota, Hasler, Roland, Hauser, Joanna, Heilbronner, Urs, Herms, Stefan, Hoffmann, Per, Hou, Liping, Hsu, Yi-Hsiang, Jamain, Stephane, Jiménez, Esther, Kahn, Jean-Pierre, Kassem, Layla, Kato, Tadafumi, Kelsoe, John, Kittel-Schneider, Sarah, Kuo, Po-Hsiu, Kusumi, Ichiro, König, Barbara, Laje, Gonzalo, Landén, Mikael, Lavebratt, Catharina, Leboyer, Marion, Leckband, Susan G., Maj, Mario, Manchia, Mirko, Marie-Claire, Cynthia, Martinsson, Lina, McCarthy, Michael J., McElroy, Susan L., Millischer, Vincent, Mitjans, Marina, Mondimore, Francis M., Monteleone, Palmiero, Nievergelt, Caroline M., Novák, Tomas, Nöthen, Markus M., O’Donovan, Claire, Ozaki, Norio, Papiol, Sergi, Pfennig, Andrea, Pisanu, Claudia, Potash, James B., Reif, Andreas, Reininghaus, Eva, Richard-Lepouriel, Hélène, Roberts, Gloria, Rouleau, Guy A., Rybakowski, Janusz K., Schalling, Martin, Schofield, Peter R., Schubert, Klaus Oliver, Schulte, Eva C., Schweizer, Barbara W., Severino, Giovanni, Shekhtman, Tatyana, Shilling, Paul D., Shimoda, Katzutaka, Simhandl, Christian, Slaney, Claire M., Squassina, Alessio, Stamm, Thomas, Stopkova, Pavla, Streit, Fabian, Tekola-Ayele, Fasil, Thalamuthu, Anbupalam, Tortorella, Alfonso, Turecki, Gustavo, Veeh, Julia, Vieta, Eduard, Viswanath, Biju, Witt, Stephanie H., Zandi, Peter P., Alda, Martin, Bauer, Michael, McMahon, Francis J., Mitchell, Philip B., Rietschel, Marcella, Schulze, Thomas G., and Baune, Bernhard T.

Published
2024
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2. PITX2 expression and Neanderthal introgression in HS3ST3A1 contribute to variation in tooth dimensions in modern humans

Author

Li, Qing, Faux, Pierre, Wentworth Winchester, Emma, Yang, Guangrui, Chen, Yingjie, Ramírez, Luis Miguel, Fuentes-Guajardo, Macarena, Poloni, Lauriane, Steimetz, Emilie, Gonzalez-José, Rolando, Acuña, Victor, Bortolini, Maria-Cátira, Poletti, Giovanni, Gallo, Carla, Rothhammer, Francisco, Rojas, Winston, Zheng, Youyi, Cox, James C., Patel, Vaishali, Hoffman, Matthew P., Ding, Li, Peng, Chenchen, Cotney, Justin, Navarro, Nicolas, Cox, Timothy C., Delgado, Miguel, Adhikari, Kaustubh, and Ruiz-Linares, Andrés

Published
2025
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3. Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits—The Hispanic/Latino Anthropometry Consortium

Author

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

Abstract

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

Published
2023

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

Author

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

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

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

Published
2022

5. Chronic neuropsychiatric sequelae of SARS‐CoV‐2: Protocol and methods from the Alzheimer's Association Global Consortium

Author

Erausquin, Gabriel A, Snyder, Heather, Brugha, Traolach S, Seshadri, Sudha, Carrillo, Maria, Sagar, Rajesh, Huang, Yueqin, Newton, Charles, Tartaglia, Carmela, Teunissen, Charlotte, Håkanson, Krister, Akinyemi, Rufus, Prasad, Kameshwar, D'Avossa, Giovanni, Gonzalez‐Aleman, Gabriela, Hosseini, Akram, Vavougios, George D, Sachdev, Perminder, Bankart, John, Mors, Niels Peter Ole, Lipton, Richard, Katz, Mindy, Fox, Peter T, Katshu, Mohammad Zia, Iyengar, M Sriram, Weinstein, Galit, Sohrabi, Hamid R, Jenkins, Rachel, Stein, Dan J, Hugon, Jacques, Mavreas, Venetsanos, Blangero, John, Cruchaga, Carlos, Krishna, Murali, Wadoo, Ovais, Becerra, Rodrigo, Zwir, Igor, Longstreth, William T, Kroenenberg, Golo, Edison, Paul, Mukaetova‐Ladinska, Elizabeta, Staufenberg, Ekkehart, Figueredo‐Aguiar, Mariana, Yécora, Agustín, Vaca, Fabiana, Zamponi, Hernan P, Re, Vincenzina Lo, Majid, Abdul, Sundarakumar, Jonas, Gonzalez, Hector M, Geerlings, Mirjam I, Skoog, Ingmar, Salmoiraghi, Alberto, Boneschi, Filippo Martinelli, Patel, Vibuthi N, Santos, Juan M, Arroyo, Guillermo Rivera, Moreno, Antonio Caballero, Felix, Pascal, Gallo, Carla, Arai, Hidenori, Yamada, Masahito, Iwatsubo, Takeshi, Sharma, Malveeka, Chakraborty, Nandini, Ferreccio, Catterina, Akena, Dickens, Brayne, Carol, Maestre, Gladys, Blangero, Sarah Williams, Brusco, Luis I, Siddarth, Prabha, Hughes, Timothy M, Zuñiga, Alfredo Ramírez, Kambeitz, Joseph, Laza, Agustin Ruiz, Allen, Norrina, Panos, Stella, Merrill, David, Ibáñez, Agustín, Tsuang, Debby, Valishvili, Nino, Shrestha, Srishti, Wang, Sophia, Padma, Vasantha, Anstey, Kaarin J, Ravindrdanath, Vijayalakshmi, Blennow, Kaj, Mullins, Paul, Łojek, Emilia, Pria, Anand, Mosley, Thomas H, Gowland, Penny, Girard, Timothy D, Bowtell, Richard, and Vahidy, Farhaan S

Subjects
Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Brain Disorders, Alzheimer's Disease, Infectious Diseases, Emerging Infectious Diseases, Clinical Research, Dementia, Neurodegenerative, Prevention, Acquired Cognitive Impairment, Aging, Aetiology, 2.1 Biological and endogenous factors, Neurological, Good Health and Well Being, cognitive impairment, dementia, neuropsychiatric sequelae, predictors, SARS-CoV-2, SARS‐CoV‐2
Abstract

IntroductionCoronavirus disease 2019 (COVID-19) has caused >3.5 million deaths worldwide and affected >160 million people. At least twice as many have been infected but remained asymptomatic or minimally symptomatic. COVID-19 includes central nervous system manifestations mediated by inflammation and cerebrovascular, anoxic, and/or viral neurotoxicity mechanisms. More than one third of patients with COVID-19 develop neurologic problems during the acute phase of the illness, including loss of sense of smell or taste, seizures, and stroke. Damage or functional changes to the brain may result in chronic sequelae. The risk of incident cognitive and neuropsychiatric complications appears independent from the severity of the original pulmonary illness. It behooves the scientific and medical community to attempt to understand the molecular and/or systemic factors linking COVID-19 to neurologic illness, both short and long term.MethodsThis article describes what is known so far in terms of links among COVID-19, the brain, neurological symptoms, and Alzheimer's disease (AD) and related dementias. We focus on risk factors and possible molecular, inflammatory, and viral mechanisms underlying neurological injury. We also provide a comprehensive description of the Alzheimer's Association Consortium on Chronic Neuropsychiatric Sequelae of SARS-CoV-2 infection (CNS SC2) harmonized methodology to address these questions using a worldwide network of researchers and institutions.ResultsSuccessful harmonization of designs and methods was achieved through a consensus process initially fragmented by specific interest groups (epidemiology, clinical assessments, cognitive evaluation, biomarkers, and neuroimaging). Conclusions from subcommittees were presented to the whole group and discussed extensively. Presently data collection is ongoing at 19 sites in 12 countries representing Asia, Africa, the Americas, and Europe.DiscussionThe Alzheimer's Association Global Consortium harmonized methodology is proposed as a model to study long-term neurocognitive sequelae of SARS-CoV-2 infection.Key pointsThe following review describes what is known so far in terms of molecular and epidemiological links among COVID-19, the brain, neurological symptoms, and AD and related dementias (ADRD)The primary objective of this large-scale collaboration is to clarify the pathogenesis of ADRD and to advance our understanding of the impact of a neurotropic virus on the long-term risk of cognitive decline and other CNS sequelae. No available evidence supports the notion that cognitive impairment after SARS-CoV-2 infection is a form of dementia (ADRD or otherwise). The longitudinal methodologies espoused by the consortium are intended to provide data to answer this question as clearly as possible controlling for possible confounders. Our specific hypothesis is that SARS-CoV-2 triggers ADRD-like pathology following the extended olfactory cortical network (EOCN) in older individuals with specific genetic susceptibility.The proposed harmonization strategies and flexible study designs offer the possibility to include large samples of under-represented racial and ethnic groups, creating a rich set of harmonized cohorts for future studies of the pathophysiology, determinants, long-term consequences, and trends in cognitive aging, ADRD, and vascular disease.We provide a framework for current and future studies to be carried out within the Consortium. and offers a "green paper" to the research community with a very broad, global base of support, on tools suitable for low- and middle-income countries aimed to compare and combine future longitudinal data on the topic.The Consortium proposes a combination of design and statistical methods as a means of approaching causal inference of the COVID-19 neuropsychiatric sequelae. We expect that deep phenotyping of neuropsychiatric sequelae may provide a series of candidate syndromes with phenomenological and biological characterization that can be further explored. By generating high-quality harmonized data across sites we aim to capture both descriptive and, where possible, causal associations.

Published
2022

6. 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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7. 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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9. Sodium-calcium exchanger-3 regulates pain “wind-up”: From human psychophysics to spinal mechanisms

Author

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

Published
2022
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11. Clotting factor genes are associated with preeclampsia in high-altitude pregnant women in the Peruvian Andes

Author

Nieves-Colón, Maria A., Badillo Rivera, Keyla M., Sandoval, Karla, Villanueva Dávalos, Vanessa, Enriquez Lencinas, Luis E., Mendoza-Revilla, Javier, Adhikari, Kaustubh, González-Buenfil, Ram, Chen, Jessica W., Zhang, Elisa T., Sockell, Alexandra, Ortiz-Tello, Patricia, Hurtado, Gloria Malena, Condori Salas, Ramiro, Cebrecos, Ricardo, Manzaneda Choque, José C., Manzaneda Choque, Franz P., Yábar Pilco, Germán P., Rawls, Erin, Eng, Celeste, Huntsman, Scott, Burchard, Esteban, Ruiz-Linares, Andrés, González-José, Rolando, Bedoya, Gabriel, Rothhammer, Francisco, Bortolini, Maria Cátira, Poletti, Giovanni, Gallo, Carla, Bustamante, Carlos D., Baker, Julie C., Gignoux, Christopher R., Wojcik, Genevieve L., and Moreno-Estrada, Andrés

Published
2022
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14. NNT mediates redox-dependent pigmentation via a UVB- and MITF-independent mechanism

Author

Allouche, Jennifer, Rachmin, Inbal, Adhikari, Kaustubh, Pardo, Luba M., Lee, Ju Hee, McConnell, Alicia M., Kato, Shinichiro, Fan, Shaohua, Kawakami, Akinori, Suita, Yusuke, Wakamatsu, Kazumasa, Igras, Vivien, Zhang, Jianming, Navarro, Paula P., Lugo, Camila Makhlouta, Noonan, Haley R., Christie, Kathleen A., Itin, Kaspar, Mujahid, Nisma, Lo, Jennifer A., Won, Chong Hyun, Evans, Conor L., Weng, Qing Yu, Wang, Hequn, Osseiran, Sam, Lovas, Alyssa, Németh, István, Cozzio, Antonio, Navarini, Alexander A., Hsiao, Jennifer J., Nguyen, Nhu, Kemény, Lajos V., Iliopoulos, Othon, Berking, Carola, Ruzicka, Thomas, Gonzalez-José, Rolando, Bortolini, Maria-Cátira, Canizales-Quinteros, Samuel, Acuna-Alonso, Victor, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Rothhammer, Francisco, Ito, Shosuke, Schiaffino, Maria Vittoria, Chao, Luke H., Kleinstiver, Benjamin P., Tishkoff, Sarah, Zon, Leonard I., Nijsten, Tamar, Ruiz-Linares, Andrés, Fisher, David E., and Roider, Elisabeth

Published
2021
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15. 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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16. How natural selection shapes genetic differentiation in the MHC region: A case study with Native Americans

Author

Nunes, Kelly, Maia, Maria Helena Thomaz, dos Santos, Eduardo José Melo, dos Santos, Sidney Emanuel Batista, Guerreiro, João Farias, Petzl-Erler, Maria Luiza, Bedoya, Gabriel, Gallo, Carla, Poletti, Giovanni, Llop, Elena, Tsuneto, Luiza, Bortolini, Maria Cátira, Rothhammer, Francisco, Single, Richard, Ruiz-Linares, Andrés, Rocha, Jorge, and Meyer, Diogo

Published
2021
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19. The immunogenetic diversity of the HLA system in Mexico correlates with underlying population genetic structure

Author

Barquera, Rodrigo, Hernández-Zaragoza, Diana Iraíz, Bravo-Acevedo, Alicia, Arrieta-Bolaños, Esteban, Clayton, Stephen, Acuña-Alonzo, Víctor, Martínez-Álvarez, Julio César, López-Gil, Concepción, Adalid-Sáinz, Carmen, Vega-Martínez, María del Rosario, Escobedo-Ruíz, Araceli, Juárez-Cortés, Eva Dolores, Immel, Alexander, Pacheco-Ubaldo, Hanna, González-Medina, Liliana, Lona-Sánchez, Abraham, Lara-Riegos, Julio, Sánchez-Fernández, María Guadalupe de Jesús, Díaz-López, Rosario, Guizar-López, Gregorio Ulises, Medina-Escobedo, Carolina Elizabeth, Arrazola-García, María Araceli, Montiel-Hernández, Gustavo Daniel, Hernández-Hernández, Ofelia, Ramos-de la Cruz, Flor del Rocío, Juárez-Nicolás, Francisco, Pantoja-Torres, Jorge Arturo, Rodríguez-Munguía, Tirzo Jesús, Juárez-Barreto, Vicencio, Delgado-Aguirre, Héctor, Escutia-González, Ariadna Berenice, Goné-Vázquez, Isis, Benítez-Arvizu, Gamaliel, Arellano-Prado, Francia Paulina, García-Arias, Víctor Eduardo, Rodríguez-López, Marla Estefanía, Méndez-Mani, Patricia, García-Álvarez, Raquel, González-Martínez, Marisela del Rocío, Aquino-Rubio, Guadalupe, Escareño-Montiel, Néstor, Vázquez-Castillo, Tannya Verónica, Uribe-Duarte, María Guadalupe, Ruíz-Corral, María de Jesús, Ortega-Yáñez, Andrea, Bernal-Felipe, Natalia, Gómez-Navarro, Benjamín, Arriaga-Perea, Agustín Jericó, Martínez-Bezies, Virginia, Macías-Medrano, Rosa María, Aguilar-Campos, Jesús Abraham, Solís-Martínez, Raúl, Serrano-Osuna, Ricardo, Sandoval-Sandoval, Mario J., Jaramillo-Rodríguez, Yolanda, Salgado-Adame, Antonio, Juárez-de la Cruz, Federico, Novelo-Garza, Bárbara, Pavón-Vargas, María de los Ángeles, Salgado-Galicia, Norma, Bortolini, Maria Cátira, Gallo, Carla, Bedoya, Gabriel, Rothhammer, Francisco, González-José, Rolando, Ruiz-Linares, Andrés, Canizales-Quinteros, Samuel, Romero-Hidalgo, Sandra, Krause, Johannes, Zúñiga, Joaquín, Yunis, Edmond J., Bekker-Méndez, Carolina, and Granados, Julio

Published
2020
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21. The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

Author

Mallick, Swapan, Li, Heng, Lipson, Mark, Mathieson, Iain, Gymrek, Melissa, Racimo, Fernando, Zhao, Mengyao, Chennagiri, Niru, Nordenfelt, Susanne, Tandon, Arti, Skoglund, Pontus, Lazaridis, Iosif, Sankararaman, Sriram, Fu, Qiaomei, Rohland, Nadin, Renaud, Gabriel, Erlich, Yaniv, Willems, Thomas, Gallo, Carla, Spence, Jeffrey P, Song, Yun S, Poletti, Giovanni, Balloux, Francois, van Driem, George, de Knijff, Peter, Romero, Irene Gallego, Jha, Aashish R, Behar, Doron M, Bravi, Claudio M, Capelli, Cristian, Hervig, Tor, Moreno-Estrada, Andres, Posukh, Olga L, Balanovska, Elena, Balanovsky, Oleg, Karachanak-Yankova, Sena, Sahakyan, Hovhannes, Toncheva, Draga, Yepiskoposyan, Levon, Tyler-Smith, Chris, Xue, Yali, Abdullah, M Syafiq, Ruiz-Linares, Andres, Beall, Cynthia M, Di Rienzo, Anna, Jeong, Choongwon, Starikovskaya, Elena B, Metspalu, Ene, Parik, Jüri, Villems, Richard, Henn, Brenna M, Hodoglugil, Ugur, Mahley, Robert, Sajantila, Antti, Stamatoyannopoulos, George, Wee, Joseph TS, Khusainova, Rita, Khusnutdinova, Elza, Litvinov, Sergey, Ayodo, George, Comas, David, Hammer, Michael F, Kivisild, Toomas, Klitz, William, Winkler, Cheryl A, Labuda, Damian, Bamshad, Michael, Jorde, Lynn B, Tishkoff, Sarah A, Watkins, W Scott, Metspalu, Mait, Dryomov, Stanislav, Sukernik, Rem, Singh, Lalji, Thangaraj, Kumarasamy, Pääbo, Svante, Kelso, Janet, Patterson, Nick, and Reich, David

Subjects
Human Genome, Genetics, Animals, Australia, Black People, Datasets as Topic, Genetic Variation, Genetics, Population, Genome, Human, Genomics, History, Ancient, Human Migration, Humans, Mutation Rate, Native Hawaiian or Other Pacific Islander, Neanderthals, New Guinea, Phylogeny, Racial Groups, Sequence Analysis, DNA, Species Specificity, Time Factors, General Science & Technology
Abstract

Here we report the Simons Genome Diversity Project data set: high quality genomes from 300 individuals from 142 diverse populations. These genomes include at least 5.8 million base pairs that are not present in the human reference genome. Our analysis reveals key features of the landscape of human genome variation, including that the rate of accumulation of mutations has accelerated by about 5% in non-Africans compared to Africans since divergence. We show that the ancestors of some pairs of present-day human populations were substantially separated by 100,000 years ago, well before the archaeologically attested onset of behavioural modernity. We also demonstrate that indigenous Australians, New Guineans and Andamanese do not derive substantial ancestry from an early dispersal of modern humans; instead, their modern human ancestry is consistent with coming from the same source as that of other non-Africans.

Published
2016

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

Author

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

Published
2021
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24. Genetic contributors to serum uric acid levels in Mexicans and their effect on premature coronary artery disease

Author

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

Published
2019
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27. Reconstructing Native American population history

Author

Reich, David, Patterson, Nick, Campbell, Desmond, Tandon, Arti, Mazieres, Stéphane, Ray, Nicolas, Parra, Maria V, Rojas, Winston, Duque, Constanza, Mesa, Natalia, García, Luis F, Triana, Omar, Blair, Silvia, Maestre, Amanda, Dib, Juan C, Bravi, Claudio M, Bailliet, Graciela, Corach, Daniel, Hünemeier, Tábita, Bortolini, Maria Cátira, Salzano, Francisco M, Petzl-Erler, María Luiza, Acuña-Alonzo, Victor, Aguilar-Salinas, Carlos, Canizales-Quinteros, Samuel, Tusié-Luna, Teresa, Riba, Laura, Rodríguez-Cruz, Maricela, Lopez-Alarcón, Mardia, Coral-Vazquez, Ramón, Canto-Cetina, Thelma, Silva-Zolezzi, Irma, Fernandez-Lopez, Juan Carlos, Contreras, Alejandra V, Jimenez-Sanchez, Gerardo, Gómez-Vázquez, Maria José, Molina, Julio, Carracedo, Ángel, Salas, Antonio, Gallo, Carla, Poletti, Giovanni, Witonsky, David B, Alkorta-Aranburu, Gorka, Sukernik, Rem I, Osipova, Ludmila, Fedorova, Sardana A, Vasquez, René, Villena, Mercedes, Moreau, Claudia, Barrantes, Ramiro, Pauls, David, Excoffier, Laurent, Bedoya, Gabriel, Rothhammer, Francisco, Dugoujon, Jean-Michel, Larrouy, Georges, Klitz, William, Labuda, Damian, Kidd, Judith, Kidd, Kenneth, Di Rienzo, Anna, Freimer, Nelson B, Price, Alkes L, and Ruiz-Linares, Andrés

Subjects
Biological Sciences, Genetics, History, Heritage and Archaeology, Human Society, Historical Studies, Anthropology, American Indian or Alaska Native, Americas, Asia, Cluster Analysis, Emigration and Immigration, Gene Flow, Genetics, Population, History, Ancient, Humans, Indians, North American, Models, Genetic, Phylogeny, Polymorphism, Single Nucleotide, Siberia, General Science & Technology
Abstract

The peopling of the Americas has been the subject of extensive genetic, archaeological and linguistic research; however, central questions remain unresolved. One contentious issue is whether the settlement occurred by means of a single migration or multiple streams of migration from Siberia. The pattern of dispersals within the Americas is also poorly understood. To address these questions at a higher resolution than was previously possible, we assembled data from 52 Native American and 17 Siberian groups genotyped at 364,470 single nucleotide polymorphisms. Here we show that Native Americans descend from at least three streams of Asian gene flow. Most descend entirely from a single ancestral population that we call 'First American'. However, speakers of Eskimo-Aleut languages from the Arctic inherit almost half their ancestry from a second stream of Asian gene flow, and the Na-Dene-speaking Chipewyan from Canada inherit roughly one-tenth of their ancestry from a third stream. We show that the initial peopling followed a southward expansion facilitated by the coast, with sequential population splits and little gene flow after divergence, especially in South America. A major exception is in Chibchan speakers on both sides of the Panama isthmus, who have ancestry from both North and South America.

Published
2012

28. Gallbladder Cancer Risk and Indigenous South American Mapuche Ancestry: Instrumental Variable Analysis Using Ancestry-Informative Markers

Author

Zollner, Linda, primary, Boekstegers, Felix, additional, Barahona Ponce, Carol, additional, Scherer, Dominique, additional, Marcelain, Katherine, additional, Gárate-Calderón, Valentina, additional, Waldenberger, Melanie, additional, Morales, Erik, additional, Rojas, Armando, additional, Munoz, César, additional, Retamales, Javier, additional, De Toro, Gonzalo, additional, Kortmann, Allan Vera, additional, Barajas, Olga, additional, Rivera, María Teresa, additional, Cortés, Analía, additional, Loader, Denisse, additional, Saavedra, Javiera, additional, Gutiérrez, Lorena, additional, Ortega, Alejandro, additional, Bertrán, Maria Enriqueta, additional, Bartolotti, Leonardo, additional, Gabler, Fernando, additional, Campos, Mónica, additional, Alvarado, Juan, additional, Moisán, Fabricio, additional, Spencer, Loreto, additional, Nervi, Bruno, additional, Carvajal, Daniel, additional, Losada, Héctor, additional, Almau, Mauricio, additional, Fernández, Plinio, additional, Olloquequi, Jordi, additional, Carter, Alice R., additional, Miquel Poblete, Juan Francisco, additional, Bustos, Bernabe Ignacio, additional, Fuentes Guajardo, Macarena, additional, Gonzalez-Jose, Rolando, additional, Bortolini, Maria Cátira, additional, Acuña-Alonzo, Victor, additional, Gallo, Carla, additional, Ruiz Linares, Andres, additional, Rothhammer, Francisco, additional, and Lorenzo Bermejo, Justo, additional

Published
2023
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29. Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment

Author

Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Hinds, David A., Hromatka, Bethann S., Huber, Karen E., Kleinman, Aaron, Litterman, Nadia K., McIntyre, Matthew H., Mountain, Joanna L., Noblin, Elizabeth S., Northover, Carrie A.M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Vacic, Vladimir, Wilson, Catherine H., Shaffer, John R., Li, Jinxi, Lee, Myoung Keun, Roosenboom, Jasmien, Orlova, Ekaterina, Adhikari, Kaustabh, Gallo, Carla, Poletti, Giovanni, Schuler-Faccini, Lavinia, Bortolini, Maria-Cátira, Canizales-Quinteros, Samuel, Rothhammer, Francisco, Bedoya, Gabriel, González-José, Rolando, Pfeffer, Paige E., Wollenschlaeger, Christopher A., Hecht, Jacqueline T., Wehby, George L., Moreno, Lina M., Ding, Anan, Jin, Li, Yang, Yajun, Carlson, Jenna C., Leslie, Elizabeth J., Feingold, Eleanor, Marazita, Mary L., Cox, Timothy C., Wang, Sijia, Ruiz-Linares, Andrés, and Weinberg, Seth M.

Published
2017
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30. Geographic patterns of genome admixture in Latin American Mestizos.

Author

Wang, Sijia, Ray, Nicolas, Rojas, Winston, Parra, Maria V, Bedoya, Gabriel, Gallo, Carla, Poletti, Giovanni, Mazzotti, Guido, Hill, Kim, Hurtado, Ana M, Camrena, Beatriz, Nicolini, Humberto, Klitz, William, Barrantes, Ramiro, Molina, Julio A, Freimer, Nelson B, Bortolini, Maria Cátira, Salzano, Francisco M, Petzl-Erler, Maria L, Tsuneto, Luiza T, Dipierri, José E, Alfaro, Emma L, Bailliet, Graciela, Bianchi, Nestor O, Llop, Elena, Rothhammer, Francisco, Excoffier, Laurent, and Ruiz-Linares, Andrés

Subjects
Chromosomes, Human, X, Humans, Genetics, Population, Microsatellite Repeats, Heterozygote, Genome, Human, African Continental Ancestry Group, American Native Continental Ancestry Group, European Continental Ancestry Group, Latin America, Female, Male, Genetic Variation, Chromosomes, Human, X, Genetics, Population, Genome, Developmental Biology
Abstract

The large and diverse population of Latin America is potentially a powerful resource for elucidating the genetic basis of complex traits through admixture mapping. However, no genome-wide characterization of admixture across Latin America has yet been attempted. Here, we report an analysis of admixture in thirteen Mestizo populations (i.e. in regions of mainly European and Native settlement) from seven countries in Latin America based on data for 678 autosomal and 29 X-chromosome microsatellites. We found extensive variation in Native American and European ancestry (and generally low levels of African ancestry) among populations and individuals, and evidence that admixture across Latin America has often involved predominantly European men and both Native and African women. An admixture analysis allowing for Native American population subdivision revealed a differentiation of the Native American ancestry amongst Mestizos. This observation is consistent with the genetic structure of pre-Columbian populations and with admixture having involved Natives from the area where the Mestizo examined are located. Our findings agree with available information on the demographic history of Latin America and have a number of implications for the design of association studies in population from the region.

Published
2008

31. Native American ancestry significantly contributes to neuromyelitis optica susceptibility in the admixed Mexican population

Author

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

Published
2020
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32. Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci

Author

Li, Yi, primary, Xiong, Ziyi, additional, Zhang, Manfei, additional, Hysi, Pirro G., additional, Qian, Yu, additional, Adhikari, Kaustubh, additional, Weng, Jun, additional, Wu, Sijie, additional, Du, Siyuan, additional, Gonzalez-Jose, Rolando, additional, Schuler-Faccini, Lavinia, additional, Bortolini, Maria-Catira, additional, Acuna-Alonzo, Victor, additional, Canizales-Quinteros, Samuel, additional, Gallo, Carla, additional, Poletti, Giovanni, additional, Bedoya, Gabriel, additional, Rothhammer, Francisco, additional, Wang, Jiucun, additional, Tan, Jingze, additional, Yuan, Ziyu, additional, Jin, Li, additional, Uitterlinden, André G., additional, Ghanbari, Mohsen, additional, Ikram, M. Arfan, additional, Nijsten, Tamar, additional, Zhu, Xiangyu, additional, Lei, Zhen, additional, Jia, Peilin, additional, Ruiz-Linares, Andres, additional, Spector, Timothy D., additional, Wang, Sijia, additional, Kayser, Manfred, additional, and Liu, Fan, additional

Published
2023
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33. Immunogenetics of lithium response and psychiatric phenotypes in patients with bipolar disorder

Author

Herrera-Rivero, Marisol, primary, Gutiérrez-Fragoso, Karina, additional, Thalamuthu, Anbupalam, additional, Amare, Azmeraw T., additional, Adli, Mazda, additional, Akiyama, Kazufumi, additional, Akula, Nirmala, additional, Ardau, Raffaella, additional, Arias, Bárbara, additional, Aubry, Jean-Michel, additional, Backlund, Lena, additional, Bellivier, Frank, additional, Benabarre, Antonio, additional, Bengesser, Susanne, additional, Abesh, Bhattacharjee, additional, Biernacka, Joanna, additional, Birner, Armin, additional, Cearns, Micah, additional, Cervantes, Pablo, additional, Chen, Hsi-Chung, additional, Chillotti, Caterina, additional, Cichon, Sven, additional, Clark, Scott, additional, Colom, Francesc, additional, Cruceanu, Cristiana, additional, Czerski, Piotr, additional, Dalkner, Nina, additional, Degenhardt, Franziska, additional, Zompo, Maria Del, additional, DePaulo, J. Raymond, additional, Etain, Bruno, additional, Falkai, Peter, additional, Ferensztajn-Rochowiak, Ewa, additional, Forstner, Andreas J., additional, Frank, Josef, additional, Frisen, Louise, additional, Frye, Mark, additional, Fullerton, Janice, additional, Gallo, Carla, additional, Gard, Sebastien, additional, Garnham, Julie, additional, Goes, Fernando, additional, Grigoroiu-Serbanescu, Maria, additional, Grof, Paul, additional, Hashimoto, Ryota, additional, Hasler, Roland, additional, Hauser, Joanna, additional, Heilbronner, Urs, additional, Herms, Stefan, additional, Hoffmann, Per, additional, Hou, Liping, additional, Hsu, YiHsiang, additional, Jamain, Stéphane, additional, Jiménez, Esther, additional, Kahn, Jean-Pierre, additional, Kassem, Layla, additional, Kato, Tadafumi, additional, Kelsoe, John, additional, Kittel-Schneider, Sarah, additional, kuo, Po-Hsiu, additional, Kurtz, Joachim, additional, Kusumi, Ichiro, additional, König, Barbara, additional, Laje, Gonzalo, additional, Landén, Mikael, additional, Lavebratt, Catharina, additional, Leboyer, Marion, additional, Leckband, Susan, additional, Maj, Mario, additional, Manchia, Mirko, additional, Marie-Claire, Cynthia, additional, Martinsson, Lina, additional, McCarthy, Michael, additional, McElroy, Susan L., additional, Millischer, Vincent, additional, Mitjans, Marina, additional, Mondimore, Francis, additional, Monteleone, Palmiero, additional, Nievergelt, Caroline, additional, Novak, Tomas, additional, Nöthen, Markus, additional, odonovan, claire, additional, Ozaki, Norio, additional, Papiol, Sergi, additional, Pfennig, Andrea, additional, Pisanu, Claudia, additional, Potash, James, additional, Reif, Andreas, additional, Reininghaus, Eva, additional, Richard-Lepouriel, Hélène, additional, Roberts, Gloria, additional, Rouleau, Guy, additional, Rybakowski, Janusz K., additional, Schalling, Martin, additional, Schofield, Peter, additional, Schubert, Klaus Oliver, additional, Schulte, Eva, additional, SCHWEIZER, BARBARA, additional, Severino, Giovanni, additional, Shekhtman, Tatyana, additional, Shilling, Paul, additional, Shimoda, Kazutaka, additional, Simhandl, Christian, additional, slaney, claire, additional, Squassina, Alessio, additional, Stamm, Thomas, additional, Stopkova, Pavla, additional, Streit, Fabian, additional, Ayele, Fasil, additional, Tortorella, Alfonso, additional, Turecki, Gustavo, additional, Veeh, Julia, additional, Vieta, Eduard, additional, Viswanath, Biju, additional, Witt, Stephanie, additional, Zandi, Peter, additional, Alda, Martin, additional, Bauer, Michael, additional, McMahon, Francis, additional, Mitchell, Philip, additional, Rietschel, Marcella, additional, Schulze, Thomas, additional, and Baune, Bernhard, additional

Published
2023
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35. Dental size variation in admixed Latin Americans: Effects of age, sex and genomic ancestry

Author

Yang, Guangrui, primary, Chen, Yingjie, additional, Li, Qing, additional, Benítez, Daniel, additional, Ramírez, Luis Miguel, additional, Fuentes-Guajardo, Macarena, additional, Hanihara, Tsunehiko, additional, Scott, G. Richard, additional, Acuña Alonzo, Victor, additional, Gonzalez Jose, Rolando, additional, Bortolini, Maria Catira, additional, Poletti, Giovanni, additional, Gallo, Carla, additional, Rothhammer, Francisco, additional, Rojas, Winston, additional, Zanolli, Clément, additional, Adhikari, Kaustubh, additional, Ruiz-Linares, Andres, additional, and Delgado, Miguel, additional

Published
2023
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37. Anatomy of the lower hypogastric plexus applied to endometriosis: a narrative review

Author

Ribeiro-Julio, Gisele Silva, Pereira, Jorge Alves, Ribeiro, Eduardo, Gallo, Carla M., and Favorito, Luciano A.

Subjects
Hypogastric Plexus, Endometriosis, Anatomy, Magnetic Resonance Imaging
Abstract

Objective The objective of the present study is to evaluate the anatomy of the inferior hypogastric plexus, correlating it with urological pathologies, imaging exams and surgeries of the female pelvis, especially for treatment of endometriosis. Material and Methods We carried out a review about the anatomy of the inferior hypogastric plexus in the female pelvis. We analyzed papers published in the past 20 years in the databases of Pubmed, Embase and Scielo, and we included only papers in English and excluded case reports, editorials, and opinions of specialists. We also studied two human fixed female corpses and microsurgical dissection material with a stereoscopic magnifying glass with 2.5x magnification. Results Classical anatomical studies provide few details of the morphology of the inferior hypogastric plexus (IHP) or the location and nature of the associated nerves. The fusion of pelvic splanchnic nerves, sacral splanchnic nerves, and superior hypogastric plexus together with visceral afferent fibers form the IHP. The surgeon’s precise knowledge of the anatomical relationship between the hypogastric nerve and the uterosacral ligament is essential to reduce the risk of complications and postoperative morbidity of patients surgically treated for deep infiltrative endometriosis involving the uterosacral ligament. Conclusion Accurate knowledge of the innervation of the female pelvis is of fundamental importance for prevention of possible injuries and voiding dysfunctions as well as the evacuation mechanism in the postoperative period. Imaging exams such as nuclear magnetic resonance are interesting tools for more accurate visualization of the distribution of the hypogastric plexus in the female pelvis.

Published
2023

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

Author

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

Abstract

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

Published
2023

40. Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci

Author

Li, Yi, Xiong, Ziyi, Zhang, Manfei, Hysi, Pirro G., Qian, Yu, Adhikari, Kaustubh, Weng, Jun, Wu, Sijie, Du, Siyuan, Gonzalez-Jose, Rolando, Schuler-Faccini, Lavinia, Bortolini, Maria Catira, Acuna-Alonzo, Victor, Canizales-Quinteros, Samuel, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Rothhammer, Francisco, Wang, Jiucun, Tan, Jingze, Yuan, Ziyu, Jin, Li, Uitterlinden, André G., Ghanbari, Mohsen, Ikram, M. Arfan, Nijsten, Tamar, Zhu, Xiangyu, Lei, Zhen, Jia, Peilin, Ruiz-Linares, Andres, Spector, Timothy D., Wang, Sijia, Kayser, Manfred, Liu, Fan, Li, Yi, Xiong, Ziyi, Zhang, Manfei, Hysi, Pirro G., Qian, Yu, Adhikari, Kaustubh, Weng, Jun, Wu, Sijie, Du, Siyuan, Gonzalez-Jose, Rolando, Schuler-Faccini, Lavinia, Bortolini, Maria Catira, Acuna-Alonzo, Victor, Canizales-Quinteros, Samuel, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Rothhammer, Francisco, Wang, Jiucun, Tan, Jingze, Yuan, Ziyu, Jin, Li, Uitterlinden, André G., Ghanbari, Mohsen, Ikram, M. Arfan, Nijsten, Tamar, Zhu, Xiangyu, Lei, Zhen, Jia, Peilin, Ruiz-Linares, Andres, Spector, Timothy D., Wang, Sijia, Kayser, Manfred, and Liu, Fan

Abstract

Human ear morphology, a complex anatomical structure represented by a multidimensional set of correlated and heritable phenotypes, has a poorly understood genetic architecture. In this study, we quantitatively assessed 136 ear morphology traits using deep learning analysis of digital face images in 14,921 individuals from five different cohorts in Europe, Asia, and Latin America. Through GWAS meta-analysis and C-GWASs, a recently introduced method to effectively combine GWASs of many traits, we identified 16 genetic loci involved in various ear phenotypes, eight of which have not been previously associated with human ear features. Our findings suggest that ear morphology shares genetic determinants with other surface ectoderm-derived traits such as facial variation, mono eyebrow, and male pattern baldness. Our results enhance the genetic understanding of human ear morphology and shed light on the shared genetic contributors of different surface ectoderm-derived phenotypes. Additionally, gene editing experiments in mice have demonstrated that knocking out the newly ear-associated gene (Intu) and a previously ear-associated gene (Tbx15) causes deviating mouse ear morphology.

Published
2023

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

Author

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

Published
2023
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42. Avaliação do treinamento de sutura laparoscópica em modelo de silicone

Author

OSORIO, LUIZ FELIPE FERNANDES, MACIEL, CLARICE FRAGA ESTEVES, GALLO, CARLA BRAGA MANO, and SAMPAIO, FRANCISCO J.

Subjects
Suture Techniques, Modelos Anatômicos, Silicones, Cursos de Capacitação, Laparoscopy, Surgery, Cirurgia Geral, Training Courses, Suturas
Abstract

Introduction: in videolaparoscopic surgery, movements are conducted from a twenty times magnified image of an indirect operative field. The video interface used assumes the need for depth perception using two dimensions instead of three. Objective: to evaluate the effectiveness of training to perform the laparoscopic knot in a silicone model, in 8-hour courses, and to analyze the correlation of learning outcomes with factors such as: sex, age, laterality, previous knowledge in endosuture and medical specialty. Material and Methods: in this prospective and randomized study, 56 students were evaluated, who took 8-hour courses, with groups of up to ten students. We used: a white box with camera, LCD screen and silicone piece. Four exercises were performed on the silicone mold: right hand, left hand, needle at 45° and back hand. Results: 56 students (mean age = 33.28 years). The female group, n=18, mean age 29.61 years, 17 right-handed and 1 left-handed. The male group, n=38, mean age 34.57 years, 35 right-handers, 1 left-handed and 2 ambidextrous. In both groups, no correlation was observed between the analyzes of well performed knots when correlated with the age or sex of the participants. Conclusion: laparoscopic knot training, in silicone molds, in 8 h courses, proved to be effective. Factors such as gender, age, laterality, previous knowledge in endosuture and medical specialty do not interfere with the learning results. RESUMO Introdução: na cirurgia videolaparoscópica os movimentos são conduzidos a partir de uma imagem magnificada de vinte vezes de um campo operatório indireto. A interface de vídeo utilizada pressupõe a necessidade de percepção de profundidade utilizando duas dimensões ao invés de três. Objetivo: avaliar a eficácia do treinamento de execução do nó laparoscópico em modelo de silicone, em cursos de 8h, e analisar a correlação dos resultados de aprendizagem com fatores como: sexo, idade, lateralidade, conhecimentos prévios em endosutura e especialidade médica. Material e Métodos: Neste estudo, prospectivo e randomizado, foram avaliados 56 alunos, que realizaram cursos de 8h de duração, com turmas de até dez alunos. Foram utilizados: uma caixa branca com câmera, tela de LCD e peça de silicone. No molde de silicone foram executados quatro exercícios: mão direita, mão esquerda, agulha a 45° e back hand. Resultados: 56 alunos (média de idade = 33,28 anos). O grupo feminino, n=18, média de idade 29,61 anos, 17 destras e 1 canhota. O grupo masculino, n=38, média de idade 34,57 anos, 35 destros, 1 canhoto e 2 ambidestros. Em ambos grupos não foram observados nenhuma correlação entre as análises de nós bem executados quando correlacionados com a idade ou sexo dos participantes. Conclusão: o treinamento de nó laparoscópico, em moldes de silicone, em cursos de 8h de duração, mostrou-se eficaz. Fatores como sexo, idade, lateralidade, conhecimentos prévios em endosutura e especialidade médica, não interferem nos resultados do aprendizado.

Published
2023

43. GWAs Identify DNA Variants Influencing Eyebrow Thickness Variation in Europeans and Across Continental Populations

Author

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

Published
2023
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46. 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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50. Mendelian Randomization Analysis of the Relationship Between Native American Ancestry and Gallbladder Cancer Risk

Author

Zollner, Linda, primary, Boekstegers, Felix, additional, Ponce, Carol Barahona, additional, Scherer, Dominique, additional, Marcelain, Katherine, additional, Gárate-Calderón, Valentina, additional, Waldenberger, Melanie, additional, Morales, Erik, additional, Rojas, Armando, additional, Munoz, César, additional, Müller, Bettina, additional, Retamales, Javier, additional, de Toro, Gonzalo, additional, Kortmann, Allan Vera, additional, Barajas, Olga, additional, Teresa Rivera, María, additional, Cortés, Analía, additional, Loader, Denisse, additional, Saavedra, Javiera, additional, Gutiérrez, Lorena, additional, Ortega, Alejandro, additional, Bertrán, Maria Enriqueta, additional, Bartolotti, Leonardo, additional, Gabler, Fernando, additional, Campos, Mónica, additional, Alvarado, Juan, additional, Moisán, Fabricio, additional, Spencer, Loreto, additional, Nervi, Bruno, additional, Carvajal, Daniel, additional, Losada, Héctor, additional, Almau, Mauricio, additional, Fernández, Plinio, additional, Olloquequi, Jordi, additional, Carter, Alice R., additional, Miquel Poblete, Juan Francisco, additional, Bustos, Bernabe Ignacio, additional, Guajardo, Macarena Fuentes, additional, Gonzalez-Jose, Rolando, additional, Cátira Bortolini, Maria, additional, Acuña-Alonzo, Victor, additional, Gallo, Carla, additional, Linares, Andres Ruiz, additional, Rothhammer, Francisco, additional, and Bermejo, Justo Lorenzo, additional

Published
2022
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