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1. Changes in cardiovascular health and white matter integrity with aerobic exercise, cognitive and combined training in physically inactive healthy late-middle-aged adults: the “Projecte Moviment” randomized controlled trial

Author

Roig-Coll, Francesca, Castells-Sánchez, Alba, Monté-Rubio, Gemma, Dacosta-Aguayo, Rosalía, Lamonja-Vicente, Noemí, Torán-Monserrat, Pere, Pere, Guillem, García-Molina, Alberto, Tormos, José Maria, Alzamora, Maria Teresa, Stavros, Dimitriadis, Sánchez-Ceron, Marta, Via, Marc, Erickson, Kirk I., and Mataró, Maria

Published
2024
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4. Genetic Variants at the 9p21.3 Locus Are Associated with Risk for Non-Compressible Artery Disease: Results from the ARTPER Study

Author

Via, Marc, primary, Pera, Guillem, additional, Forés, Rosa, additional, Costa-Garrido, Anna, additional, Heras, Antonio, additional, Baena-Díez, José Miguel, additional, Pedrosa, Edurne, additional, Clemente, Inmaculada C., additional, Lamonja-Vicente, Noemí, additional, Mataró, Maria, additional, Torán-Montserrat, Pere, additional, and Alzamora, M. Teresa, additional

Published
2023
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5. Changes in cardiovascular health and white matter integrity with aerobic exercise, cognitive and combined training in physically inactive healthy late-middle-aged adults: the “Projecte Moviment” randomized controlled trial

Author

Roig-Coll, Francesca, primary, Castells-Sánchez, Alba, additional, Monté-Rubio, Gemma, additional, Dacosta-Aguayo, Rosalía, additional, Lamonja-Vicente, Noemí, additional, Torán-Monserrat, Pere, additional, Pere, Guillem, additional, García-Molina, Alberto, additional, Tormos, José Maria, additional, Alzamora, Maria Teresa, additional, Stavros, Dimitriadis, additional, Sánchez-Ceron, Marta, additional, Via, Marc, additional, Erickson, Kirk I., additional, and Mataró, Maria, additional

Published
2023
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6. A global reference for human genetic variation

Author

Auton, Adam, Abecasis, Gonçalo R, Altshuler, David M, Durbin, Richard M, Bentley, David R, Chakravarti, Aravinda, Clark, Andrew G, Donnelly, Peter, Eichler, Evan E, Flicek, Paul, Gabriel, Stacey B, Gibbs, Richard A, Green, Eric D, Hurles, Matthew E, Knoppers, Bartha M, Korbel, Jan O, Lander, Eric S, Lee, Charles, Lehrach, Hans, Mardis, Elaine R, Marth, Gabor T, McVean, Gil A, Nickerson, Deborah A, Schmidt, Jeanette P, Sherry, Stephen T, Wang, Jun, Wilson, Richard K, Barnes, Kathleen C, Beiswanger, Christine, Burchard, Esteban G, Bustamante, Carlos D, Cai, Hongyu, Cao, Hongzhi, Gerry, Norman P, Gharani, Neda, Gignoux, Christopher R, Gravel, Simon, Henn, Brenna, Jones, Danielle, Jorde, Lynn, Kaye, Jane S, Keinan, Alon, Kent, Alastair, Kerasidou, Angeliki, Li, Yingrui, Mathias, Rasika, Moreno-Estrada, Andres, Ossorio, Pilar N, Parker, Michael, Resch, Alissa M, Rotimi, Charles N, Royal, Charmaine D, Sandoval, Karla, Su, Yeyang, Sudbrak, Ralf, Tian, Zhongming, Tishkoff, Sarah, Toji, Lorraine H, Tyler-Smith, Chris, Via, Marc, Wang, Yuhong, Yang, Huanming, Yang, Ling, Zhu, Jiayong, Brooks, Lisa D, Felsenfeld, Adam L, McEwen, Jean E, Vaydylevich, Yekaterina, Duncanson, Audrey, Dunn, Michael, Schloss, Jeffery A, Garrison, Erik P, Min Kang, Hyun, Marchini, Jonathan L, and McCarthy, Shane

Subjects
Human Genome, Genetics, Biotechnology, 2.1 Biological and endogenous factors, Aetiology, Datasets as Topic, Demography, Disease Susceptibility, Exome, Genetic Variation, Genetics, Medical, Genetics, Population, Genome, Human, Genome-Wide Association Study, Genomics, Genotype, Haplotypes, High-Throughput Nucleotide Sequencing, Humans, INDEL Mutation, Internationality, Physical Chromosome Mapping, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Rare Diseases, Reference Standards, Sequence Analysis, DNA, Genomes Project Consortium, General Science & Technology
Abstract

The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-genome sequencing, deep exome sequencing, and dense microarray genotyping. We characterized a broad spectrum of genetic variation, in total over 88 million variants (84.7 million single nucleotide polymorphisms (SNPs), 3.6 million short insertions/deletions (indels), and 60,000 structural variants), all phased onto high-quality haplotypes. This resource includes >99% of SNP variants with a frequency of >1% for a variety of ancestries. We describe the distribution of genetic variation across the global sample, and discuss the implications for common disease studies.

Published
2015

7. Reconstructing Native American Migrations from Whole-genome and Whole-exome Data

Author

Gravel, Simon, Zakharia, Fouad, Moreno-Estrada, Andres, Byrnes, Jake K, Muzzio, Marina, Rodriguez-Flores, Juan L., Kenny, Eimear E., Gignoux, Christopher R., Maples, Brian K., Guiblet, Wilfried, Dutil, Julie, Via, Marc, Sandoval, Karla, Bedoya, Gabriel, Oleksyk, Taras K, Ruiz-Linares, Andres, Burchard, Esteban G, Martinez-Cruzado, Juan Carlos, Bustamante, Carlos D., and Project, The 1000 Genomes

Subjects
Quantitative Biology - Populations and Evolution, Quantitative Biology - Genomics, 92D25
Abstract

There is great scientific and popular interest in understanding the genetic history of populations in the Americas. We wish to understand when different regions of the continent were inhabited, where settlers came from, and how current inhabitants relate genetically to earlier populations. Recent studies unraveled parts of the genetic history of the continent using genotyping arrays and uniparental markers. The 1000 Genomes Project provides a unique opportunity for improving our understanding of population genetic history by providing over a hundred sequenced low coverage genomes and exomes from Colombian (CLM), Mexican-American (MXL), and Puerto Rican (PUR) populations. Here, we explore the genomic contributions of African, European, and Native American ancestry to these populations. Estimated Native American ancestry is 48% in MXL, 25% in CLM, and 13% in PUR. Native American ancestry in PUR is most closely related to populations surrounding the Orinoco River basin, confirming the Southern America ancestry of the Ta\'ino people of the Caribbean. We present new methods to estimate the allele frequencies in the Native American fraction of the populations, and model their distribution using a demographic model for three ancestral Native American populations. These ancestral populations likely split in close succession: the most likely scenario, based on a peopling of the Americas 16 thousand years ago (kya), supports that the MXL Ancestors split 12.2kya, with a subsequent split of the ancestors to CLM and PUR 11.7kya. The model also features effective populations of 62,000 in Mexico, 8,700 in Colombia, and 1,900 in Puerto Rico. Modeling Identity-by-descent and ancestry tract length, we show that post-contact populations differ markedly in their effective sizes and migration patterns, with Puerto Rico showing the smallest effective size and the earlier migration from Europe., Comment: 30 pages, inludes supplement. v2 contains clarifications, extra analyses, and a change in the language classification scheme used

Published
2013

8. The genetics of Mexico recapitulates Native American substructure and affects biomedical traits

Author

Moreno-Estrada, Andrés, Gignoux, Christopher R, Fernández-López, Juan Carlos, Zakharia, Fouad, Sikora, Martin, Contreras, Alejandra V, Acuña-Alonzo, Victor, Sandoval, Karla, Eng, Celeste, Romero-Hidalgo, Sandra, Ortiz-Tello, Patricia, Robles, Victoria, Kenny, Eimear E, Nuño-Arana, Ismael, Barquera-Lozano, Rodrigo, Macín-Pérez, Gastón, Granados-Arriola, Julio, Huntsman, Scott, Galanter, Joshua M, Via, Marc, Ford, Jean G, Chapela, Rocío, Rodriguez-Cintron, William, Rodríguez-Santana, Jose R, Romieu, Isabelle, Sienra-Monge, Juan José, del Rio Navarro, Blanca, London, Stephanie J, Ruiz-Linares, Andrés, Garcia-Herrera, Rodrigo, Estrada, Karol, Hidalgo-Miranda, Alfredo, Jimenez-Sanchez, Gerardo, Carnevale, Alessandra, Soberón, Xavier, Canizales-Quinteros, Samuel, Rangel-Villalobos, Héctor, Silva-Zolezzi, Irma, Burchard, Esteban Gonzalez, and Bustamante, Carlos D

Subjects
Biological Sciences, Anthropology, Genetics, Human Society, Clinical Research, Human Genome, Black People, Genetic Variation, Genome, Human, Humans, Indians, North American, Mexican Americans, Mexico, Population, White People, General Science & Technology
Abstract

Mexico harbors great cultural and ethnic diversity, yet fine-scale patterns of human genome-wide variation from this region remain largely uncharacterized. We studied genomic variation within Mexico from over 1000 individuals representing 20 indigenous and 11 mestizo populations. We found striking genetic stratification among indigenous populations within Mexico at varying degrees of geographic isolation. Some groups were as differentiated as Europeans are from East Asians. Pre-Columbian genetic substructure is recapitulated in the indigenous ancestry of admixed mestizo individuals across the country. Furthermore, two independently phenotyped cohorts of Mexicans and Mexican Americans showed a significant association between subcontinental ancestry and lung function. Thus, accounting for fine-scale ancestry patterns is critical for medical and population genetic studies within Mexico, in Mexican-descent populations, and likely in many other populations worldwide.

Published
2014

9. Genetic Variants at the 9p21.3 Locus Are Associated with Risk for Non-Compressible Artery Disease: Results from the ARTPER Study.

Author

Via, Marc, Pera, Guillem, Forés, Rosa, Costa-Garrido, Anna, Heras, Antonio, Baena-Díez, José Miguel, Pedrosa, Edurne, Clemente, Inmaculada C., Lamonja-Vicente, Noemí, Mataró, Maria, Torán-Montserrat, Pere, and Alzamora, M. Teresa

Subjects
*ARTERIAL diseases, *GENETIC variation, *PERIPHERAL vascular diseases, *ANKLE brachial index, *SYMPTOMS
Abstract

Peripheral artery disease (PAD) and non-compressible artery disease (NCAD) constitute predictors of subclinical atherosclerosis easily assessed through the ankle brachial index (ABI). Although both diseases show substantial genetic influences, few genetic association studies have focused on the ABI and PAD, and none have focused on NCAD. To overcome these limitations, we assessed the role of several candidate genes on the ABI, both in its continuous distribution and in the clinical manifestations associated to its extreme values: PAD and NCAD. We examined 13 candidate genomic regions in 1606 participants from the ARTPER study, a prospective population-based cohort, with the ABI assessed through ultrasonography. Association analyses were conducted independently for individuals with PAD (ABI < 0.9) or with NCAD (ABI > 1.4) vs. healthy participants. After including potential covariates and correction for multiple testing, minor alleles in the genetic markers rs10757278 and rs1333049, both in the 9p21.3 region, were significantly associated with a decreased risk of NCAD. Associations with the ABI showed limited support to these results. No significant associations were detected for PAD. The locus 9p21.3 constitutes the first genetic locus associated with NCAD, an assessment of subclinical atherosclerosis feasible for implementation in primary healthcare settings that has been systematically neglected from genetic studies. [ABSTRACT FROM AUTHOR]

Published
2024
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10. Development of a panel of genome-wide ancestry informative markers to study admixture throughout the Americas.

Author

Galanter, Joshua Mark, Fernandez-Lopez, Juan Carlos, Gignoux, Christopher R, Barnholtz-Sloan, Jill, Fernandez-Rozadilla, Ceres, Via, Marc, Hidalgo-Miranda, Alfredo, Contreras, Alejandra V, Figueroa, Laura Uribe, Raska, Paola, Jimenez-Sanchez, Gerardo, Zolezzi, Irma Silva, Torres, Maria, Ponte, Clara Ruiz, Ruiz, Yarimar, Salas, Antonio, Nguyen, Elizabeth, Eng, Celeste, Borjas, Lisbeth, Zabala, William, Barreto, Guillermo, González, Fernando Rondón, Ibarra, Adriana, Taboada, Patricia, Porras, Liliana, Moreno, Fabián, Bigham, Abigail, Gutierrez, Gerardo, Brutsaert, Tom, León-Velarde, Fabiola, Moore, Lorna G, Vargas, Enrique, Cruz, Miguel, Escobedo, Jorge, Rodriguez-Santana, José, Rodriguez-Cintrón, William, Chapela, Rocio, Ford, Jean G, Bustamante, Carlos, Seminara, Daniela, Shriver, Mark, Ziv, Elad, Burchard, Esteban Gonzalez, Haile, Robert, Parra, Esteban, Carracedo, Angel, and LACE Consortium

Subjects
LACE Consortium, Humans, Genetic Markers, Population Dynamics, Genome, Human, African Continental Ancestry Group, American Native Continental Ancestry Group, European Continental Ancestry Group, Latin America, Genome, Human, Genetics, Developmental Biology
Abstract

Most individuals throughout the Americas are admixed descendants of Native American, European, and African ancestors. Complex historical factors have resulted in varying proportions of ancestral contributions between individuals within and among ethnic groups. We developed a panel of 446 ancestry informative markers (AIMs) optimized to estimate ancestral proportions in individuals and populations throughout Latin America. We used genome-wide data from 953 individuals from diverse African, European, and Native American populations to select AIMs optimized for each of the three main continental populations that form the basis of modern Latin American populations. We selected markers on the basis of locus-specific branch length to be informative, well distributed throughout the genome, capable of being genotyped on widely available commercial platforms, and applicable throughout the Americas by minimizing within-continent heterogeneity. We then validated the panel in samples from four admixed populations by comparing ancestry estimates based on the AIMs panel to estimates based on genome-wide association study (GWAS) data. The panel provided balanced discriminatory power among the three ancestral populations and accurate estimates of individual ancestry proportions (R² > 0.9 for ancestral components with significant between-subject variance). Finally, we genotyped samples from 18 populations from Latin America using the AIMs panel and estimated variability in ancestry within and between these populations. This panel and its reference genotype information will be useful resources to explore population history of admixture in Latin America and to correct for the potential effects of population stratification in admixed samples in the region.

Published
2012

11. Heterogeneity in Genetic Admixture across Different Regions of Argentina

Author

Avena, Sergio, Via, Marc, Ziv, Elad, Pérez-Stable, Eliseo J, Gignoux, Christopher R, Dejean, Cristina, Huntsman, Scott, Torres-Mejía, Gabriela, Dutil, Julie, Matta, Jaime L, Beckman, Kenneth, Burchard, Esteban González, Parolin, María Laura, Goicoechea, Alicia, Acreche, Noemí, Boquet, Mariel, Del Carmen Ríos Part, María, Fernández, Vanesa, Rey, Jorge, Stern, Mariana C, Carnese, Raúl F, and Fejerman, Laura

Subjects
Biological Sciences, Genetics, Human Society, Argentina, Chromosome Mapping, Ethnicity, Female, Genetic Variation, Genetics, Population, Genotype, Humans, Male, Racial Groups, General Science & Technology
Abstract

The population of Argentina is the result of the intermixing between several groups, including Indigenous American, European and African populations. Despite the commonly held idea that the population of Argentina is of mostly European origin, multiple studies have shown that this process of admixture had an impact in the entire Argentine population. In the present study we characterized the distribution of Indigenous American, European and African ancestry among individuals from different regions of Argentina and evaluated the level of discrepancy between self-reported grandparental origin and genetic ancestry estimates. A set of 99 autosomal ancestry informative markers (AIMs) was genotyped in a sample of 441 Argentine individuals to estimate genetic ancestry. We used non-parametric tests to evaluate statistical significance. The average ancestry for the Argentine sample overall was 65% European (95%CI: 63-68%), 31% Indigenous American (28-33%) and 4% African (3-4%). We observed statistically significant differences in European ancestry across Argentine regions [Buenos Aires province (BA) 76%, 95%CI: 73-79%; Northeast (NEA) 54%, 95%CI: 49-58%; Northwest (NWA) 33%, 95%CI: 21-41%; South 54%, 95%CI: 49-59%; p

Published
2012

12. Ancestry-related assortative mating in latino populations

Author

Risch, Neil, Choudhry, Shweta, Via, Marc, Basu, Analabha, Sebro, Ronnie, Eng, Celeste, Beckman, Kenneth, Thyne, Shannon, Chapela, Rocio, Rodriguez-Santana, Jose R, Rodriguez-Cintron, William, Avila, Pedro C, Ziv, Elad, and Gonzalez Burchard, Esteban

Abstract

Abstract Background While spouse correlations have been documented for numerous traits, no prior studies have assessed assortative mating for genetic ancestry in admixed populations. Results Using 104 ancestry informative markers, we examined spouse correlations in genetic ancestry for Mexican spouse pairs recruited from Mexico City and the San Francisco Bay Area, and Puerto Rican spouse pairs recruited from Puerto Rico and New York City. In the Mexican pairs, we found strong spouse correlations for European and Native American ancestry, but no correlation in African ancestry. In the Puerto Rican pairs, we found significant spouse correlations for African ancestry and European ancestry but not Native American ancestry. Correlations were not attributable to variation in socioeconomic status or geographic heterogeneity. Past evidence of spouse correlation was also seen in the strong evidence of linkage disequilibrium between unlinked markers, which was accounted for in regression analysis by ancestral allele frequency difference at the pair of markers (European versus Native American for Mexicans, European versus African for Puerto Ricans). We also observed an excess of homozygosity at individual markers within the spouses, but this provided weaker evidence, as expected, of spouse correlation. Ancestry variance is predicted to decline in each generation, but less so under assortative mating. We used the current observed variances of ancestry to infer even stronger patterns of spouse ancestry correlation in previous generations. Conclusions Assortative mating related to genetic ancestry persists in Latino populations to the current day, and has impacted on the genomic structure in these populations.

Published
2009

14. Effects and mechanisms of mindfulness training and physical exercise on cognition, emotional wellbeing, and brain outcomes in chronic stroke patients: Study protocol of the MindFit project randomized controlled trial

Author

Bermudo-Gallaguet, Adrià, primary, Ariza, Mar, additional, Dacosta-Aguayo, Rosalia, additional, Agudelo, Daniela, additional, Camins-Vila, Neus, additional, Boldó, Maria, additional, Carrera, Òscar, additional, Vidal, Sandra, additional, Ferrer-Uris, Blai, additional, Busquets, Albert, additional, Via, Marc, additional, Pera, Guillem, additional, Cáceres, Cynthia, additional, Gomis, Meritxell, additional, García-Molina, Alberto, additional, Tormos, José María, additional, Arrabé, Ana, additional, Diez, Gustavo, additional, Durà Mata, Maria José, additional, Torán-Monserrat, Pere, additional, Soriano-Raya, Juan José, additional, Domènech, Sira, additional, Perera-Lluna, Alexandre, additional, Erickson, Kirk I., additional, and Mataró, Maria, additional

Published
2022
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15. Molecular and Brain Volume Changes Following Aerobic Exercise, Cognitive and Combined Training in Physically Inactive Healthy Late-Middle-Aged Adults: The Projecte Moviment Randomized Controlled Trial

Author

Castells-Sánchez, Alba, primary, Roig-Coll, Francesca, additional, Dacosta-Aguayo, Rosalía, additional, Lamonja-Vicente, Noemí, additional, Torán-Monserrat, Pere, additional, Pera, Guillem, additional, García-Molina, Alberto, additional, Tormos, José Maria, additional, Montero-Alía, Pilar, additional, Heras-Tébar, Antonio, additional, Soriano-Raya, Juan José, additional, Cáceres, Cynthia, additional, Domènech, Sira, additional, Via, Marc, additional, Erickson, Kirk I., additional, and Mataró, Maria, additional

Published
2022
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18. A global reference for human genetic variation

Author

Altshuler, David M., (Co-Chair), Durbin, Richard M., (Co-Chair, Principal Investigator), Donnelly, Peter, Green, Eric D., Nickerson, Deborah A., Boerwinkle, Eric, Doddapaneni, Harsha, Han, Yi, Korchina, Viktoriya, Kovar, Christie, Lee, Sandra, Muzny, Donna, Reid, Jeffrey G., Zhu, Yiming, Wang, Jun, (Principal Investigator), Chang, Yuqi, Feng, Qiang, Fang, Xiaodong, Guo, Xiaosen, Jian, Min, Jiang, Hui, Jin, Xin, Lan, Tianming, Li, Guoqing, Li, Jingxiang, Li, Yingrui, Liu, Shengmao, Liu, Xiao, Lu, Yao, Ma, Xuedi, Tang, Meifang, Wang, Bo, Wang, Guangbiao, Wu, Honglong, Wu, Renhua, Xu, Xun, Yin, Ye, Zhang, Dandan, Zhang, Wenwei, Zhao, Jiao, Zhao, Meiru, Zheng, Xiaole, Lander, Eric S., (Principal Investigator), Gabriel, Stacey B., (Co-Chair), Gupta, Namrata, Gharani, Neda, Toji, Lorraine H., Gerry, Norman P., Resch, Alissa M., Barker, Jonathan, Gil, Laurent, Hunt, Sarah E., Kelman, Gavin, Kulesha, Eugene, Leinonen, Rasko, McLaren, William M., Radhakrishnan, Rajesh, Roa, Asier, Smirnov, Dmitriy, Smith, Richard E., Streeter, Ian, Thormann, Anja, Toneva, Iliana, Vaughan, Brendan, Zheng-Bradley, Xiangqun, Bentley, David R., (Principal Investigator), Grocock, Russell, Humphray, Sean, James, Terena, Kingsbury, Zoya, Lehrach, Hans, (Principal Investigator), Sudbrak, Ralf, (Project Leader), Albrecht, Marcus W., Amstislavskiy, Vyacheslav S., Borodina, Tatiana A., Lienhard, Matthias, Mertes, Florian, Sultan, Marc, Timmermann, Bernd, Yaspo, Marie-Laure, Mardis, Elaine R., (Co-Principal Investigator) (Co-Chair), Wilson, Richard K., (Co-Principal Investigator), Fulton, Lucinda, Fulton, Robert, Ananiev, Victor, Belaia, Zinaida, Beloslyudtsev, Dimitriy, Bouk, Nathan, Chen, Chao, Church, Deanna, Cohen, Robert, Cook, Charles, Garner, John, Hefferon, Timothy, Kimelman, Mikhail, Liu, Chunlei, Lopez, John, Meric, Peter, O’Sullivan, Chris, Ostapchuk, Yuri, Phan, Lon, Ponomarov, Sergiy, Schneider, Valerie, Shekhtman, Eugene, Sirotkin, Karl, Slotta, Douglas, Zhang, Hua, Balasubramaniam, Senduran, Burton, John, Danecek, Petr, Keane, Thomas M., Kolb-Kokocinski, Anja, McCarthy, Shane, Stalker, James, Quail, Michael, Schmidt, Jeanette P., (Principal Investigator), Davies, Christopher J., Gollub, Jeremy, Webster, Teresa, Wong, Brant, Zhan, Yiping, Auton, Adam, (Principal Investigator), Campbell, Christopher L., Kong, Yu, Marcketta, Anthony, Yu, Fuli, (Project Leader), Antunes, Lilian, Bainbridge, Matthew, Sabo, Aniko, Huang, Zhuoyi, Coin, Lachlan J. M., Fang, Lin, Li, Qibin, Li, Zhenyu, Lin, Haoxiang, Liu, Binghang, Luo, Ruibang, Shao, Haojing, Xie, Yinlong, Ye, Chen, Yu, Chang, Zhang, Fan, Zheng, Hancheng, Zhu, Hongmei, Alkan, Can, Dal, Elif, Kahveci, Fatma, Garrison, Erik P., (Project Lead), Kural, Deniz, Lee, Wan-Ping, Leong, Wen Fung, Stromberg, Michael, Ward, Alistair N., Wu, Jiantao, Zhang, Mengyao, Daly, Mark J., (Principal Investigator), DePristo, Mark A., (Project Leader), Handsaker, Robert E., (Project Leader), Banks, Eric, Bhatia, Gaurav, del Angel, Guillermo, Genovese, Giulio, Li, Heng, Kashin, Seva, Nemesh, James C., Poplin, Ryan E., Yoon, Seungtai C., (Principal Investigator), Lihm, Jayon, Makarov, Vladimir, Clark, Andrew G., (Principal Investigator), Gottipati, Srikanth, Keinan, Alon, Rodriguez-Flores, Juan L., Rausch, Tobias, (Project Leader), Fritz, Markus H., Stütz, Adrian M., Beal, Kathryn, Datta, Avik, Herrero, Javier, Ritchie, Graham R. S., Zerbino, Daniel, Sabeti, Pardis C., (Principal Investigator), Shlyakhter, Ilya, Schaffner, Stephen F., Vitti, Joseph, Cooper, David N., (Principal Investigator), Ball, Edward V., Stenson, Peter D., Barnes, Bret, Bauer, Markus, Cheetham, Keira R., Cox, Anthony, Eberle, Michael, Kahn, Scott, Murray, Lisa, Peden, John, Shaw, Richard, Kenny, Eimear E., (Principal Investigator), Batzer, Mark A., (Principal Investigator), Konkel, Miriam K., Walker, Jerilyn A., MacArthur, Daniel G., (Principal Investigator), Lek, Monkol, Herwig, Ralf, Koboldt, Daniel C., Larson, David, Ye, Kai, Gravel, Simon, Swaroop, Anand, Chew, Emily, Lappalainen, Tuuli, (Principal Investigator), Erlich, Yaniv, (Principal Investigator), Gymrek, Melissa, Willems, Thomas Frederick, Simpson, Jared T., Shriver, Mark D., (Principal Investigator), Rosenfeld, Jeffrey A., (Principal Investigator), Montgomery, Stephen B., (Principal Investigator), De La Vega, Francisco M., (Principal Investigator), Byrnes, Jake K., Carroll, Andrew W., DeGorter, Marianne K., Lacroute, Phil, Maples, Brian K., Martin, Alicia R., Moreno-Estrada, Andres, Shringarpure, Suyash S., Zakharia, Fouad, Halperin, Eran, (Principal Investigator), Baran, Yael, Cerveira, Eliza, Hwang, Jaeho, Malhotra, Ankit, (Co-Project Lead), Plewczynski, Dariusz, Radew, Kamen, Romanovitch, Mallory, Zhang, Chengsheng, (Co-Project Lead), Hyland, Fiona C. L., Craig, David W., (Principal Investigator), Christoforides, Alexis, Homer, Nils, Izatt, Tyler, Kurdoglu, Ahmet A., Sinari, Shripad A., Squire, Kevin, Xiao, Chunlin, Sebat, Jonathan, (Principal Investigator), Antaki, Danny, Gujral, Madhusudan, Noor, Amina, Ye, Kenny, Burchard, Esteban G., (Principal Investigator), Hernandez, Ryan D., (Principal Investigator), Gignoux, Christopher R., Haussler, David, (Principal Investigator), Katzman, Sol J., Kent, James W., Howie, Bryan, Ruiz-Linares, Andres, (Principal Investigator), Dermitzakis, Emmanouil T., (Principal Investigator), Devine, Scott E., (Principal Investigator), Abecasis, Gonçalo R., (Principal Investigator) (Co-Chair), Kang, Hyun Min, (Project Leader), Kidd, Jeffrey M., (Principal Investigator), Blackwell, Tom, Caron, Sean, Chen, Wei, Emery, Sarah, Fritsche, Lars, Fuchsberger, Christian, Jun, Goo, Li, Bingshan, Lyons, Robert, Scheller, Chris, Sidore, Carlo, Song, Shiya, Sliwerska, Elzbieta, Taliun, Daniel, Tan, Adrian, Welch, Ryan, Wing, Mary Kate, Zhan, Xiaowei, Awadalla, Philip, (Principal Investigator), Hodgkinson, Alan, Li, Yun, Shi, Xinghua, (Principal Investigator), Quitadamo, Andrew, Lunter, Gerton, (Principal Investigator), McVean, Gil A., (Principal Investigator) (Co-Chair), Marchini, Jonathan L., (Principal Investigator), Myers, Simon, (Principal Investigator), Churchhouse, Claire, Delaneau, Olivier, Gupta-Hinch, Anjali, Kretzschmar, Warren, Iqbal, Zamin, Mathieson, Iain, Menelaou, Androniki, Rimmer, Andy, Xifara, Dionysia K., Oleksyk, Taras K., (Principal Investigator), Fu, Yunxin, (Principal Investigator), Liu, Xiaoming, Xiong, Momiao, Jorde, Lynn, (Principal Investigator), Witherspoon, David, Xing, Jinchuan, Browning, Brian L., (Principal Investigator), Browning, Sharon R., (Principal Investigator), Hormozdiari, Fereydoun, Sudmant, Peter H., Khurana, Ekta, (Principal Investigator), Hurles, Matthew E., (Principal Investigator), Albers, Cornelis A., Ayub, Qasim, Chen, Yuan, Colonna, Vincenza, Jostins, Luke, Walter, Klaudia, Xue, Yali, Abyzov, Alexej, Balasubramanian, Suganthi, Chen, Jieming, Clarke, Declan, Fu, Yao, Harmanci, Arif O., Jin, Mike, Lee, Donghoon, Liu, Jeremy, Mu, Xinmeng Jasmine, Zhang, Jing, Zhang, Yan, McCarroll, Steven A., (Principal Investigator), Hartl, Chris, Shakir, Khalid, Degenhardt, Jeremiah, Korbel, Jan O., (Principal Investigator) (Co-Chair), Meiers, Sascha, Raeder, Benjamin, Casale, Francesco Paolo, Stegle, Oliver, Lameijer, Eric-Wubbo, Ding, Li, (Principal Investigator), Hall, Ira, Lee, Charles, (Principal Investigator) (Co-Chair), Bafna, Vineet, Michaelson, Jacob, Gardner, Eugene J., (Project Leader), Mills, Ryan E., (Principal Investigator), Dayama, Gargi, Chen, Ken, (Principle Investigator), Fan, Xian, Chong, Zechen, Chen, Tenghui, Eichler, Evan E., (Principal Investigator) (Co-Chair), Chaisson, Mark J., Huddleston, John, Malig, Maika, Nelson, Bradley J., Parrish, Nicholas F., Blackburne, Ben, Lindsay, Sarah J., Ning, Zemin, Zhang, Yujun, Lam, Hugo, Sisu, Cristina, Gibbs, Richard A., (Principal Investigator) (Co-Chair), Challis, Danny, Evani, Uday S., Lu, James, Nagaswamy, Uma, Yu, Jin, Li, Wangshen, Marth, Gabor T., (Principal Investigator) (Co-Chair), Habegger, Lukas, Yu, Haiyuan, (Principal Investigator), Cunningham, Fiona, Dunham, Ian, Lage, Kasper, (Principal Investigator), Jespersen, Jakob Berg, Horn, Heiko, Tyler-Smith, Chris, (Principal Investigator) (Co-Chair), Gerstein, Mark B., (Principal Investigator) (Co-Chair), Kim, Donghoon, Desalle, Rob, Narechania, Apurva, Wilson Sayres, Melissa A., Bustamante, Carlos D., (Principal Investigator) (Co-Chair), Mendez, Fernando L., Poznik, David G., Underhill, Peter A., Coin, Lachlan, (Principal Investigator), Mittelman, David, Banerjee, Ruby, Cerezo, Maria, Fitzgerald, Thomas W., Louzada, Sandra, Massaia, Andrea, Ritchie, Graham R., Yang, Fengtang, Kalra, Divya, Hale, Walker, Dan, Xu, Flicek, Paul, (Principal Investigator) (Co-Chair), Clarke, Laura, (Project Lead), Sherry, Stephen T., (Principal Investigator) (Co-Chair), Chakravarti, Aravinda, (Co-Chair), Knoppers, Bartha M., (Co-Chair), Barnes, Kathleen C., Beiswanger, Christine, Cai, Hongyu, Cao, Hongzhi, Henn, Brenna, Jones, Danielle, Kaye, Jane S., Kent, Alastair, Kerasidou, Angeliki, Mathias, Rasika, Ossorio, Pilar N., Parker, Michael, Rotimi, Charles N., Royal, Charmaine D., Sandoval, Karla, Su, Yeyang, Tian, Zhongming, Tishkoff, Sarah, Via, Marc, Wang, Yuhong, Yang, Ling, Zhu, Jiayong, Bodmer, Walter, Bedoya, Gabriel, Cai, Zhiming, Gao, Yang, Chu, Jiayou, Peltonen, Leena, Garcia-Montero, Andres, Orfao, Alberto, Dutil, Julie, Martinez-Cruzado, Juan C., Mathias, Rasika A., Hennis, Anselm, Watson, Harold, McKenzie, Colin, Qadri, Firdausi, LaRocque, Regina, Deng, Xiaoyan, Asogun, Danny, Folarin, Onikepe, Happi, Christian, Omoniwa, Omonwunmi, Stremlau, Matt, Tariyal, Ridhi, Jallow, Muminatou, Joof, Fatoumatta Sisay, Corrah, Tumani, Rockett, Kirk, Kwiatkowski, Dominic, Kooner, Jaspal, Hiê`n, Trâ`n Tinh, Dunstan, Sarah J., Hang, Nguyen Thuy, Fonnie, Richard, Garry, Robert, Kanneh, Lansana, Moses, Lina, Schieffelin, John, Grant, Donald S., Gallo, Carla, Poletti, Giovanni, Saleheen, Danish, Rasheed, Asif, Brooks, Lisa D., Felsenfeld, Adam L., McEwen, Jean E., Vaydylevich, Yekaterina, Duncanson, Audrey, Dunn, Michael, Schloss, Jeffery A., and Yang, Huanming

Published
2015
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20. Large‐scale collaboration in ENIGMA‐EEG: A perspective on the meta‐analytic approach to link neurological and psychiatric liability genes to electrophysiological brain activity

Author

Smit, Dirk J. A., primary, Andreassen, Ole A., additional, Boomsma, Dorret I., additional, Burwell, Scott J., additional, Chorlian, David B., additional, de Geus, Eco J. C., additional, Elvsåshagen, Torbjørn, additional, Gordon, Reyna L., additional, Harper, Jeremy, additional, Hegerl, Ulrich, additional, Hensch, Tilman, additional, Iacono, William G., additional, Jawinski, Philippe, additional, Jönsson, Erik G., additional, Luykx, Jurjen J., additional, Magne, Cyrille L., additional, Malone, Stephen M., additional, Medland, Sarah E., additional, Meyers, Jacquelyn L., additional, Moberget, Torgeir, additional, Porjesz, Bernice, additional, Sander, Christian, additional, Sisodiya, Sanjay M., additional, Thompson, Paul M., additional, van Beijsterveldt, Catharina E. M., additional, van Dellen, Edwin, additional, Via, Marc, additional, and Wright, Margaret J., additional

Published
2021
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21. Exercise and Fitness Neuroprotective Effects: Molecular, Brain Volume and Psychological Correlates and Their Mediating Role in Healthy Late-Middle-Aged Women and Men

Author

Castells-Sánchez, Alba, primary, Roig-Coll, Francesca, additional, Dacosta-Aguayo, Rosalia, additional, Lamonja-Vicente, Noemí, additional, Sawicka, Angelika K., additional, Torán-Monserrat, Pere, additional, Pera, Guillem, additional, Montero-Alía, Pilar, additional, Heras-Tebar, Antonio, additional, Domènech, Sira, additional, Via, Marc, additional, Erickson, Kirk I., additional, and Mataró, Maria, additional

Published
2021
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22. Population relationships in the Mediterranean revealed by autosomal genetic data (Alu and Alu/STR compound systems)

Author

Gonzalez-Perez, Emili, Esteban, Esther, Via, Marc, Gaya-Vidal, Magdalena, Athanasiadis, Georgios, Dugoujon, Jean Michel, Luna, Francisco, Mesa, Maria Soledad, Fuster, Vicente, Kandil, Mostafa, Harich, Nourdin, Bissar-Tadmouri, Nisrine, Saetta, Angela, and Moral, Pedro

Subjects
Genetic research -- Analysis, Permeability -- Analysis, Anthropology/archeology/folklore
Abstract

The variation of 18 Alu polymorphisms and 3 linked STRs was determined in 1,831 individuals from 15 Mediterranean populations to analyze the relationships between human groups in this geographical region and provide a complementary perspective to information from studies based on uniparental markers. Patterns of population diversity revealed by the two kinds of markers examined were different from one another, likely in relation to their different mutation rates. Therefore, while the Alu biallelic variation underlies general heterogeneity throughout the whole Mediterranean region, the combined use of Alu and STR points to a con siderable genetic differentiation between the two Mediterranean shores, presumably strengthened by a considerable sub-Saharan African genetic contribution in North Africa (around 13% calculated from Alu markers). Gene flow analysis confirms the permeability of the Sahara to human passage along with the existence of trans-Mediterranean interchanges. Two specific Alu/STR combinations--CD4 110(-) and DM 107(-)--detected in all North African samples, the Iberian Peninsula, Greece, Turkey, and some Mediterranean islands suggest an ancient genetic background of current Mediterranean peoples. Am J Phys Anthropol 141:430-439, 2010. KEY WORDS Berber; genetic admixture; haplotypes; Sahara DOI 10.1002/ajpa.21161

Published
2010

23. HUMAN GENETICS: The genetics of Mexico recapitulates Native American substructure and affects biomedical traits

Author

Moreno-Estrada, Andrés, Gignoux, Christopher R., Fernández-López, Juan Carlos, Zakharia, Fouad, Sikora, Martin, Contreras, Alejandra V., Acuña-Alonzo, Victor, Sandoval, Karla, Eng, Celeste, Romero-Hidalgo, Sandra, Ortiz-Tello, Patricia, Robles, Victoria, Kenny, Eimear E., Nuño-Arana, Ismael, Barquera-Lozano, Rodrigo, Macín-Pérez, Gastón, Granados-Arriola, Julio, Huntsman, Scott, Galanter, Joshua M., Via, Marc, Ford, Jean G., Chapela, Rocío, Rodriguez-Cintron, William, Rodríguez-Santana, Jose R., Romieu, Isabelle, Sienra-Monge, Juan José, del Rio Navarro, Blanca, London, Stephanie J., Ruiz-Linares, Andrés, Garcia-Herrera, Rodrigo, Estrada, Karol, Hidalgo-Miranda, Alfredo, Jimenez-Sanchez, Gerardo, Carnevale, Alessandra, Soberón, Xavier, Canizales-Quinteros, Samuel, Rangel-Villalobos, Hector, Silva-Zolezzi, Irma, Burchard, Esteban Gonzalez, and Bustamante, Carlos D.

Published
2014
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26. Sex-Specific Protective Effects of APOE ε2 on Cognitive Performance

Author

Lamonja-Vicente, Noemí, primary, Dacosta-Aguayo, Rosalia, additional, López-Olóriz, Jorge, additional, Prades-Senovilla, Laia, additional, Roig-Coll, Francesca, additional, Castells-Sánchez, Alba, additional, Soriano-Raya, Juan José, additional, Clemente, Inmaculada, additional, Miralbell, Júlia, additional, Barrios, Maite, additional, López-Cancio, Elena, additional, Cáceres, Cynthia, additional, Arenillas, Juan Francisco, additional, Millán, Mónica, additional, Torán, Pere, additional, Pera, Guillem, additional, Fores, Rosa, additional, Alzamora, Maria Teresa, additional, Mataró, Maria, additional, and Via, Marc, additional

Published
2020
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28. An integrated map of genetic variation from 1,092 human genomes

Author

McVean, Gil A., Altshuler, David M., Durbin, Richard M., Abecasis, Gonçalo R., Bentley, David R., Chakravarti, Aravinda, Clark, Andrew G., Donnelly, Peter, Eichler, Evan E., Flicek, Paul, Gabriel, Stacey B., Gibbs, Richard A., Green, Eric D., Hurles, Matthew E., Knoppers, Bartha M., Korbel, Jan O., Lander, Eric S., Lee, Charles, Lehrach, Hans, Mardis, Elaine R., Marth, Gabor T., Nickerson, Deborah A., Schmidt, Jeanette P., Sherry, Stephen T., Wang, Jun, Wilson, Richard K., Dinh, Huyen, Kovar, Christie, Lee, Sandra, Lewis, Lora, Muzny, Donna, Reid, Jeff, Wang, Min, Wang, Jun, Fang, Xiaodong, Guo, Xiaosen, Jian, Min, Jiang, Hui, Jin, Xin, Li, Guoqing, Li, Jingxiang, Li, Yingrui, Li, Zhuo, Liu, Xiao, Lu, Yao, Ma, Xuedi, Su, Zhe, Tai, Shuaishuai, Tang, Meifang, Wang, Bo, Wang, Guangbiao, Wu, Honglong, Wu, Renhua, Yin, Ye, Zhang, Wenwei, Zhao, Jiao, Zhao, Meiru, Zheng, Xiaole, Zhou, Yan, Lander, Eric S., Gabriel, Stacey B., Gupta, Namrata, Flicek, Paul, Clarke, Laura, Leinonen, Rasko, Smith, Richard E., Zheng-Bradley, Xiangqun, Bentley, David R., Grocock, Russell, Humphray, Sean, James, Terena, Kingsbury, Zoya, Lehrach, Hans, Sudbrak, Ralf, Albrecht, Marcus W., Amstislavskiy, Vyacheslav S., Borodina, Tatiana A., Lienhard, Matthias, Mertes, Florian, Sultan, Marc, Timmermann, Bernd, Yaspo, Marie-Laure, Sherry, Stephen T., McVean, Gil A., Mardis, Elaine R., Wilson, Richard K., Fulton, Lucinda, Fulton, Robert, Weinstock, George M., Durbin, Richard M., Balasubramaniam, Senduran, Burton, John, Danecek, Petr, Keane, Thomas M., Kolb-Kokocinski, Anja, McCarthy, Shane, Stalker, James, Quail, Michael, Schmidt, Jeanette P., Davies, Christopher J., Gollub, Jeremy, Webster, Teresa, Wong, Brant, Zhan, Yiping, Auton, Adam, Yu, Fuli, Bainbridge, Matthew, Challis, Danny, Evani, Uday S., Lu, James, Nagaswamy, Uma, Sabo, Aniko, Wang, Yi, Yu, Jin, Coin, Lachlan J. M., Fang, Lin, Li, Qibin, Li, Zhenyu, Lin, Haoxiang, Liu, Binghang, Luo, Ruibang, Qin, Nan, Shao, Haojing, Wang, Bingqiang, Xie, Yinlong, Ye, Chen, Yu, Chang, Zhang, Fan, Zheng, Hancheng, Zhu, Hongmei, Garrison, Erik P., Kural, Deniz, Lee, Wan-Ping, Fung Leong, Wen, Ward, Alistair N., Wu, Jiantao, Zhang, Mengyao, Lee, Charles, Griffin, Lauren, Hsieh, Chih-Heng, Mills, Ryan E., Shi, Xinghua, von Grotthuss, Marcin, Zhang, Chengsheng, Daly, Mark J., DePristo, Mark A., Banks, Eric, Bhatia, Gaurav, Carneiro, Mauricio O., del Angel, Guillermo, Genovese, Giulio, Handsaker, Robert E., Hartl, Chris, McCarroll, Steven A., Nemesh, James C., Poplin, Ryan E., Schaffner, Stephen F., Shakir, Khalid, Yoon, Seungtai C., Lihm, Jayon, Makarov, Vladimir, Jin, Hanjun, Kim, Wook, Cheol Kim, Ki, Korbel, Jan O., Rausch, Tobias, Beal, Kathryn, Cunningham, Fiona, Herrero, Javier, McLaren, William M., Ritchie, Graham R. S., Clark, Andrew G., Gottipati, Srikanth, Keinan, Alon, Rodriguez-Flores, Juan L., Sabeti, Pardis C., Grossman, Sharon R., Tabrizi, Shervin, Tariyal, Ridhi, Cooper, David N., Ball, Edward V., Stenson, Peter D., Barnes, Bret, Bauer, Markus, Keira Cheetham, R., Cox, Tony, Eberle, Michael, Kahn, Scott, Murray, Lisa, Peden, John, Shaw, Richard, Ye, Kai, Batzer, Mark A., Konkel, Miriam K., Walker, Jerilyn A., MacArthur, Daniel G., Lek, Monkol, Sudbrak, Herwig, Ralf, Shriver, Mark D., Bustamante, Carlos D., Byrnes, Jake K., De La Vega, Francisco M., Gravel, Simon, Kenny, Eimear E., Kidd, Jeffrey M., Lacroute, Phil, Maples, Brian K., Moreno-Estrada, Andres, Zakharia, Fouad, Halperin, Eran, Baran, Yael, Craig, David W., Christoforides, Alexis, Homer, Nils, Izatt, Tyler, Kurdoglu, Ahmet A., Sinari, Shripad A., Squire, Kevin, Xiao, Chunlin, Sebat, Jonathan, Bafna, Vineet, Ye, Kenny, Burchard, Esteban G., Hernandez, Ryan D., Gignoux, Christopher R., Haussler, David, Katzman, Sol J., James Kent, W., Howie, Bryan, Ruiz-Linares, Andres, Dermitzakis, Emmanouil T., Lappalainen, Tuuli, Devine, Scott E., Liu, Xinyue, Maroo, Ankit, Tallon, Luke J., Rosenfeld, Jeffrey A., Min Kang, Hyun, Anderson, Paul, Angius, Andrea, Bigham, Abigail, Blackwell, Tom, Busonero, Fabio, Cucca, Francesco, Fuchsberger, Christian, Jones, Chris, Jun, Goo, Li, Yun, Lyons, Robert, Maschio, Andrea, Porcu, Eleonora, Reinier, Fred, Sanna, Serena, Schlessinger, David, Sidore, Carlo, Tan, Adrian, Kate Trost, Mary, Awadalla, Philip, Hodgkinson, Alan, Lunter, Gerton, McVean, Gil A., Marchini, Jonathan L., Myers, Simon, Churchhouse, Claire, Delaneau, Olivier, Gupta-Hinch, Anjali, Iqbal, Zamin, Mathieson, Iain, Rimmer, Andy, Xifara, Dionysia K., Oleksyk, Taras K., Fu, Yunxin, Liu, Xiaoming, Xiong, Momiao, Jorde, Lynn, Witherspoon, David, Xing, Jinchuan, Eichler, Evan E., Browning, Brian L., Alkan, Can, Hajirasouliha, Iman, Hormozdiari, Fereydoun, Ko, Arthur, Sudmant, Peter H., Mardis, Elaine R., Chen, Ken, Chinwalla, Asif, Ding, Li, Dooling, David, Koboldt, Daniel C., McLellan, Michael D., Wallis, John W., Wendl, Michael C., Zhang, Qunyuan, Hurles, Matthew E., Tyler-Smith, Chris, Albers, Cornelis A., Ayub, Qasim, Chen, Yuan, Coffey, Alison J., Colonna, Vincenza, Huang, Ni, Jostins, Luke, Li, Heng, Scally, Aylwyn, Walter, Klaudia, Xue, Yali, Zhang, Yujun, Gerstein, Mark B., Abyzov, Alexej, Balasubramanian, Suganthi, Chen, Jieming, Clarke, Declan, Fu, Yao, Habegger, Lukas, Harmanci, Arif O., Jin, Mike, Khurana, Ekta, Jasmine Mu, Xinmeng, Sisu, Cristina, Lee, Charles, McCarroll, Steven A., Degenhardt, Jeremiah, Korbel, Jan O., Stütz, Adrian M., Church, Deanna, Michaelson, Jacob J., Eichler, Evan E., Hurles, Matthew E., Blackburne, Ben, Lindsay, Sarah J., Ning, Zemin, DePristo, Mark A., Min Kang, Hyun, Mardis, Elaine R., Yu, Fuli, Michelson, Leslie P., Tyler-Smith, Chris, Frankish, Adam, Harrow, Jennifer, Fowler, Gerald, Hale, Walker, Kalra, Divya, Flicek, Paul, Clarke, Laura, Barker, Jonathan, Kelman, Gavin, Kulesha, Eugene, Radhakrishnan, Rajesh, Roa, Asier, Smirnov, Dmitriy, Streeter, Ian, Toneva, Iliana, Vaughan, Brendan, Sherry, Stephen T., Ananiev, Victor, Belaia, Zinaida, Beloslyudtsev, Dimitriy, Bouk, Nathan, Chen, Chao, Cohen, Robert, Cook, Charles, Garner, John, Hefferon, Timothy, Kimelman, Mikhail, Liu, Chunlei, Lopez, John, Meric, Peter, OʼSullivan, Chris, Ostapchuk, Yuri, Phan, Lon, Ponomarov, Sergiy, Schneider, Valerie, Shekhtman, Eugene, Sirotkin, Karl, Slotta, Douglas, Zhang, Hua, Chakravarti, Aravinda, Knoppers, Bartha M., Barnes, Kathleen C., Beiswanger, Christine, Burchard, Esteban G., Bustamante, Carlos D., Cai, Hongyu, Cao, Hongzhi, Durbin, Richard M., Gharani, Neda, Henn, Brenna, Jones, Danielle, Jorde, Lynn, Kaye, Jane S., Kent, Alastair, Kerasidou, Angeliki, Mathias, Rasika, Ossorio, Pilar N., Parker, Michael, Reich, David, Rotimi, Charles N., Royal, Charmaine D., Sandoval, Karla, Su, Yeyang, Sudbrak, Ralf, Tian, Zhongming, Tishkoff, Sarah, Toji, Lorraine H., Tyler-Smith, Chris, Via, Marc, Wang, Yuhong, Yang, Huanming, Yang, Ling, Zhu, Jiayong, Bodmer, Walter, Bedoya, Gabriel, Ruiz-Linares, Andres, Zhi Ming, Cai, Yang, Gao, Jia You, Chu, Peltonen, Leena, Garcia-Montero, Andres, Orfao, Alberto, Dutil, Julie, Martinez-Cruzado, Juan C., Oleksyk, Taras K., Brooks, Lisa D., Felsenfeld, Adam L., McEwen, Jean E., Clemm, Nicholas C., Duncanson, Audrey, Dunn, Michael, Guyer, Mark S., Peterson, Jane L., Abecasis, Goncalo R., and Auton, Adam

Published
2012
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30. Admixture mapping identifies a locus on 6q25 associated with breast cancer risk in US Latinas

Author

Fejerman, Laura, Chen, Gary K., Eng, Celeste, Huntsman, Scott, Hu, Donglei, Williams, Amy, Pasaniuc, Bogdan, John, Esther M., Via, Marc, Gignoux, Christopher, Ingles, Sue, Monroe, Kristine R., Kolonel, Laurence N., Torres-Mejía, Gabriela, Pérez-Stable, Eliseo J., González Burchard, Esteban, Henderson, Brian E., Haiman, Christopher A., and Ziv, Elad

Published
2012
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34. Effects and Mechanisms of Cognitive, Aerobic Exercise, and Combined Training on Cognition, Health, and Brain Outcomes in Physically Inactive Older Adults: The Projecte Moviment Protocol

Author

Castells-Sánchez, Alba, primary, Roig-Coll, Francesca, additional, Lamonja-Vicente, Noemí, additional, Altés-Magret, Marina, additional, Torán-Monserrat, Pere, additional, Via, Marc, additional, García-Molina, Alberto, additional, Tormos, José Maria, additional, Heras, Antonio, additional, Alzamora, Maite T., additional, Forés, Rosa, additional, Pera, Guillem, additional, Dacosta-Aguayo, Rosalia, additional, Soriano-Raya, Juan José, additional, Cáceres, Cynthia, additional, Montero-Alía, Pilar, additional, Montero-Alía, Juan José, additional, Jimenez-Gonzalez, Maria Mercedes, additional, Hernández-Pérez, Maria, additional, Perera, Alexandre, additional, Grove, George A., additional, Munuera, Josep, additional, Domènech, Sira, additional, Erickson, Kirk I., additional, and Mataró, Maria, additional

Published
2019
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35. Sex-Specific Protective Effects of APOE ε2 on Cognitive Performance.

Author

Lamonja-Vicente, Noemí, Dacosta-Aguayo, Rosalia, López-Olóriz, Jorge, Prades-Senovilla, Laia, Roig-Coll, Francesca, Castells-Sánchez, Alba, Soriano-Raya, Juan José, Clemente, Inmaculada, Miralbell, Júlia, Barrios, Maite, López-Cancio, Elena, Cáceres, Cynthia, Arenillas, Juan Francisco, Millán, Mónica, Torán, Pere, Pera, Guillem, Fores, Rosa, Alzamora, Maria Teresa, Mataró, Maria, and Via, Marc

Subjects
BRAIN-derived neurotrophic factor, COGNITIVE aging, C-reactive protein, APOLIPOPROTEIN E, COGNITION, SEX distribution, APOLIPOPROTEINS, GENOTYPES, LONGITUDINAL method
Abstract

Apolipoprotein E (APOE) has an important role in the multiple trajectories of cognitive aging. However, environmental variables and other genes mediate the impact of APOE on cognition. Our main objective was to analyze the effect of APOE genotype on cognition and its interactions and relationships with sex, age, lipid profile, C-reactive protein, and Brain-derived neurotrophic factor (BDNF) genotype in a sample of 648 healthy participants over 50 years of age with a comprehensive neuropsychological assessment. Our results showed that APOE ε2 carriers performed better in the Verbal Memory (p = .002) and Fluency Domains (p = .001). When we studied the effect of sex, we observed that the beneficial effect of APOE ε2 on the normalized values of these cognitive domains occurred only in females (β = 0.735; 95% confidence interval, 0.396-1.074; p = 3.167·10-5 and β = 0.568; 95% confidence interval, 0.276-0.861; p = 1.853·10-4, respectively). Similarly, the sex-specific effects of APOE ε2 were further observed on lipidic and inflammation biomarkers. In the whole sample, APOE ε2 carriers showed significantly lower levels of total cholesterol, low-density lipoprotein cholesterol, and C-reactive protein. These differences were found only among females. Furthermore, total cholesterol and low-density lipoprotein cholesterol mediated the protective effect of APOE ε2 on cognition in the whole sample and total cholesterol in females, providing candidate physiological mechanisms for the observed genetic effects. Our results show that the neuroprotective role of APOE ε2 in cognition varies with sex and that the lipidic profile partially mediates this protection. Age-related cognitive and functional decline is a continuous biological process with different cognitive trajectories (1). Complex interactions between heritability, environmental influence, and cognitive functions in aging have been highlighted (2). In particular, genetic differences explain around 15%-25% of the variance in life expectancy (3). Therefore, the identification of susceptibility genes and their biological effects on cognitive aging is required to establish interindividual differences in this process and promote early personalized interventions to delay cognitive decline and minimize the financial burden of aging in the health care system. [ABSTRACT FROM AUTHOR]

Published
2021
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36. Big Data in Genomics: Ethical Challenges and Risks

Author

Via, Marc

Subjects
Big Data, compartición de datos, privadesa, privacidad, bioètica, Bioethics, genomics, genetics, big data, incidental findings, privacy, data sharing, Bioética, genómica, genética, hallazgos incidentales, troballes incidentals, Bioètica, compartició de dades, bioética, bioethics
Abstract

La informació genòmica és un tipus de 'Big Data' d'ús creixent a causa de millores tecnològiques. En aquest treball, revisem tres grups de reptes i riscos ètics associats amb aquesta informació: riscos de privadesa, gestió de les troballes incidentals i reptes en l'emmagatzematge i compartició de dades. En primer lloc, hem d'establir mecanismes sòlids per protegir la privadesa, però les dades genòmiques presenten riscos específics i hem d'admetre la possibilitat de reidentificació. Cal regular l'ús adequat de la informació genòmica incloent-hi recomanacions per a la gestió de les troballes incidentals. També cal establir polítiques clares per compartir dades i fomentar l'ús de repositoris de dades genòmiques. No obstant això, hem d'esperar desenvolupaments ràpids a la tecnologia i noves aplicacions de la informació genètica, i hem d'anticipar-nos als riscos potencials futurs., Genomic information is a class of Big Data in expanding use thanks to technological developments. Here, we review three categories of ethical risks and challenges associated with genomic information: privacy issues, the management of incidental findings, and challenges in data storage and sharing. First, we need to implement strong mechanisms to protect privacy, but genomic data faces specific risks and we need to acknowledge the possibility of re-identification. Proper usage of genomic information has to be regulated, including recommendations on incidental finding management. Also, clear policies for data sharing and explicit efforts to promote central repositories of genomic data should be established. However, technology and new applications of genetic information will develop fast and we should anticipate potential new risks., La información genómica es un tipo de 'Big Data' de uso creciente debido a mejoras tecnológicas. En este trabajo, revisamos tres grupos de retos y riesgos éticos asociados con esta información: riesgos de privacidad, gestión de los hallazgos incidentales y retos en el almacenamiento y compartición de datos. En primer lugar, debemos establecer mecanismos sólidos para proteger la privacidad, pero los datos genómicos presentan riesgos específicos y debemos admitir la posibilidad de reidentificación. Hay que regular el uso adecuado de la información genómica incluyendo recomendaciones para la gestión de los hallazgos incidentales. También hay que establecer políticas claras para compartir datos y fomentar el uso de repositorios de datos genómicos. No obstante, debemos esperar desarrollos rápidos en la tecnología y nuevas aplicaciones de la información genética, y debemos anticiparnos a los futuros riesgos potenciales.

Published
2017

37. 'Big Data' en genòmica: reptes i riscos ètics

Author

Via, Marc

Subjects
Big Data, compartición de datos, privadesa, privacidad, bioètica, data sharing, troballes incidentals, genética, privacy, genómica, incidental findings, compartició de dades, genomics, genetics, bioética, hallazgos incidentales, bioethics
Abstract

Genomic information is a class of Big Data in expanding use thanks to technological developments. Here, we review three categories of ethical risks and challenges associated with genomic information: privacy issues, the management of incidental findings, and challenges in data storage and sharing. First, we need to implement strong mechanisms to protect privacy, but genomic data faces specific risks and we need to acknowledge the possibility of re-identification. Proper usage of genomic information has to be regulated, including recommendations on incidental finding management. Also, clear policies for data sharing and explicit efforts to promote central repositories of genomic data should be established. However, technology and new applications of genetic information will develop fast and we should anticipate potential new risks. Resumen La información genómica es un tipo de 'Big Data' de uso creciente debido a mejoras tecnológicas. En este trabajo, revisamos tres grupos de retos y riesgos éticos asociados con esta información: riesgos de privacidad, gestión de los hallazgos incidentales y retos en el almacenamiento y compartición de datos. En primer lugar, debemos establecer mecanismos sólidos para proteger la privacidad, pero los datos genómicos presentan riesgos específicos y debemos admitir la posibilidad de reidentificación. Hay que regular el uso adecuado de la información genómica incluyendo recomendaciones para la gestión de los hallazgos incidentales. También hay que establecer políticas claras para compartir datos y fomentar el uso de repositorios de datos genómicos. No obstante, debemos esperar desarrollos rápidos en la tecnología y nuevas aplicaciones de la información genética, y debemos anticiparnos a los futuros riesgos potenciales. Resum La informació genòmica és un tipus de 'Big Data' d'ús creixent a causa de millores tecnològiques. En aquest treball, revisem tres grups de reptes i riscos ètics associats amb aquesta informació: riscos de privadesa, gestió de les troballes incidentals i reptes en l'emmagatzematge i compartició de dades. En primer lloc, hem d'establir mecanismes sòlids per protegir la privadesa, però les dades genòmiques presenten riscos específics i hem d'admetre la possibilitat de reidentificació. Cal regular l'ús adequat de la informació genòmica incloent-hi recomanacions per a la gestió de les troballes incidentals. També cal establir polítiques clares per compartir dades i fomentar l'ús de repositoris de dades genòmiques. No obstant això, hem d'esperar desenvolupaments ràpids a la tecnologia i noves aplicacions de la informació genètica, i hem d'anticipar-nos als riscos potencials futurs.

Published
2017

38. Genetic analysis of Sephardic ancestry in the Iberian Peninsula

Author

Álvarez-Álvarez, Miguel Martín, primary, Risch, Neil, additional, Gignoux, Christopher R., additional, Huntsman, Scott, additional, Ziv, Elad, additional, Fejerman, Laura, additional, Esteban, Maria Esther, additional, Gayà-Vidal, Magdalena, additional, Sobrino, Beatriz, additional, Brisighelli, Francesca, additional, Harich, Nourdin, additional, Cruciani, Fulvio, additional, Chaabani, Hassen, additional, Carracedo, Ángel, additional, Moral, Pedro, additional, Burchard, Esteban González, additional, Via, Marc, additional, and Athanasiadis, Georgios, additional

Published
2018
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45. Analysis of Genomic Regions Associated With Coronary Artery Disease Reveals Continent-Specific Single Nucleotide Polymorphisms in North African Populations

Author

Zanetti, Daniela, primary, Via, Marc, additional, Carreras-Torres, Robert, additional, Esteban, Esther, additional, Chaabani, Hassen, additional, Anaibar, Fatima, additional, Harich, Nourdin, additional, Habbal, Rachida, additional, Ghalim, Noreddine, additional, and Moral, Pedro, additional

Published
2016
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46. Cosmopolitan and Ethnic-specific Replication of Genetic Risk Factors for Asthma in Two Latino Populations

Author

Galanter, Joshua M, Torgerson, Dara, Gignoux, Chris R, Sen, Saunak, Roth, Lindsey A., Via, Marc, Aldrich, Melinda C, Eng, Celeste, Huntsman, Scott, Rodriguez-Santana, Jose, Rodriguez-Cintrón, William, Chapela, Rocio, Ford, Jean G., and Burchard, Esteban G.

Subjects
Adult, Male, Adolescent, Puerto Rico, Hispanic or Latino, Polymorphism, Single Nucleotide, Article, Asthma, Young Adult, Risk Factors, Mexican Americans, Humans, Female, Genetic Predisposition to Disease, Child, Mexico, Oligonucleotide Array Sequence Analysis
Abstract

Although Mexicans and Puerto Ricans are jointly classified as "Hispanic/Latino," there are significant differences in asthma prevalence, severity, and mortality between the 2 groups. We sought to examine the possibility that population-specific genetic risks contribute to this disparity.More than 100 candidate genes have been associated with asthma and replicated in an independent population, and 7 genome-wide association studies in asthma have been performed. We compared the pattern of replication of these associations in Puerto Ricans and Mexicans.We genotyped Mexican and Puerto Rican trios using an Affymetrix 6.0 GeneChip and used a family-based analysis to test for genetic associations in 124 genes previously associated with asthma.We identified 32 single nucleotide polymorphisms (SNPs) in 17 genes associated with asthma in at least 1 of the 2 populations. Twenty-two of these SNPs in 11 genes were significantly associated with asthma in the combined population and showed no significant heterogeneity of association, whereas 5 SNPs were associated in only 1 population and showed statistically significant heterogeneity. In a gene-based approach 2 additional genes were associated with asthma in the combined population, and 3 additional genes displayed ethnic-specific associations with heterogeneity.Our results show that only a minority of genetic association studies replicate in our population of Mexican and Puerto Rican asthmatic subjects. Among SNPs that were successfully replicated, most showed no significant heterogeneity across populations. However, we identified several population-specific genetic associations.

Published
2011

48. Population Relationships in the Mediterranean Revealed by Autosomal Genetic Data (Alu and Alu/STR Compound Systems)

Author

Gonzalez-Perez, Emili Esteban, Esther Via, Marc Gaya-Vidal, Magdalena Athanasiadis, Georgios Dugoujon, Jean Michel Luna, Francisco Soledad Mesa, Maria Fuster, Vicente Kandil, Mostafa Harich, Nourdin Bissar-Tadmouri, Nisrine Saetta, Angela Moral, Pedro

Subjects
humanities
Abstract

The variation of 18 Alu polymorphisms and 3 linked STRs was determined in 1,831 individuals from 15 Mediterranean populations to analyze the relationships between human groups in this geographical region and provide a complementary perspective to information from studies based on uniparental markers. Patterns of population diversity revealed by the two kinds of markers examined were different from one another, likely in relation to their different mutation rates. Therefore, while the Alu biallelic variation underlies general heterogeneity throughout the whole Mediterranean region, the combined use of Alu and STR points to a considerable genetic differentiation between the two Mediterranean shores, presumably strengthened by a considerable sub-Saharan African genetic contribution in North Africa (around 13% calculated from Alu markers). Gene flow analysis confirms the permeability of the Sahara to human passage along with the existence of trans-Mediterranean interchanges. Two specific Alu/STR combinations-CD4 110(-) and DM 107(-)-detected in all North African samples, the Iberian Peninsula, Greece, Turkey, and some Mediterranean islands suggest an ancient genetic background of current Mediterranean peoples. Am J Phys Anthropol 141:430-439, 2010. (C) 2009 Wiley-Liss, Inc.

Published
2010

50. Alu insertions in the Iberian Peninsula and north west Africa--genetic boundaries or melting pot?

Author

González-Pérez, Emili, Via, Marc, Esteban, Esther, López-Alomar, Antoni, Mazières, Stéphane, Harich, Nourdin, Kandil, Mostafa, Dugoujon, Jean-Michel, Moral Castrillo, Pedro, Unitat d´Antropologia, Universitat de Barcelona (UB)-Departament de Biologia Animal, Laboratoire d'Anthropobiologie (LA), École des hautes études en sciences sociales (EHESS)-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS), Département de Biologie, and Faculté des Sciences El Jadida-Université Chouaib Doukkali (UCD)

Subjects
Morocco, Cote d'Ivoire, Genetics, Population, Polymorphism, Genetic, Gene Frequency, Alu Elements, Mediterranean Region, Spain, [SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology, Ethnicity, Humans, [SDE.BE]Environmental Sciences/Biodiversity and Ecology, humanities
Abstract

International audience; The Western Mediterranean Basin joins a set of ethnically different populations as Iberians and Basques in the North shore and Berbers and Arab-speakers in the South one. In spite of this differentiation, they have maintained historical contacts since ancient times. The existence of a possible common genetic background (specially for Berbers and Iberians) together with the genetic impact of the Islamic occupation of the Iberian Peninsula during 7 centuries are some of the intriguing anthropological questions that have been studied in this area using several classical and DNA markers. The aim of this work is to present the results on a survey of polymorphic Alu elements in 10 human populations of the Western Mediterranean. Recent Alu subfamilies include a significant number of polymorphic Alu insertions in humans. The polymorphic Alu elements are neutral genetic markers of identical descent with known ancestral states. This fact turns Alu insertions into useful markers for the study of human population genetics. A total number of 14 Alu insertions were analyzed in 5 Iberian populations, 3 Berber groups from North-Western Africa, an Arab-speaker population from Morocco and a sub-Saharan ethnic group from Ivory Coast. The results of this study allow the genetic characterization of Berber populations, which show a certain degree of differentiation from Arab-speaking groups of the same geographic area. Furthermore, a closer genetic distance between South Spain and Moroccan Berbers as compared with other Spanish samples supports a major genetic influx consistent with some (but not all) previous genetic studies on populations from the two shores of the Gibraltar Straits.

Published
2004

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