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Author

Irma Silva-Zolezzi

Other affiliations: Johns Hopkins University
Bio: Irma Silva-Zolezzi is an academic researcher from Nestlé. The author has contributed to research in topics: Population & Gestational diabetes. The author has an hindex of 19, co-authored 40 publications receiving 2039 citations. Previous affiliations of Irma Silva-Zolezzi include Johns Hopkins University.

Papers
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Journal ArticleDOI
David Reich1, David Reich2, Nick Patterson1, Desmond Campbell3, Desmond Campbell4, Arti Tandon1, Arti Tandon2, Stéphane Mazières5, Stéphane Mazières3, Nicolas Ray6, María Victoria Parra7, María Victoria Parra3, Winston Rojas7, Winston Rojas3, Constanza Duque3, Constanza Duque7, Natalia Mesa7, Natalia Mesa3, Luis F. García7, Omar Triana7, Silvia Blair7, Amanda Maestre7, Juan Carlos Dib, Claudio M. Bravi8, Claudio M. Bravi3, Graciela Bailliet8, Daniel Corach9, Tábita Hünemeier10, Tábita Hünemeier3, Maria Cátira Bortolini10, Francisco M. Salzano10, Maria Luiza Petzl-Erler11, Victor Acuña-Alonzo, Carlos A. Aguilar-Salinas, Samuel Canizales-Quinteros12, Teresa Tusié-Luna12, Laura Riba12, Maricela Rodríguez-Cruz13, Mardia López-Alarcón13, Ramón Mauricio Coral-Vázquez14, Thelma Canto-Cetina, Irma Silva-Zolezzi15, Juan Carlos Fernández-López, Alejandra V. Contreras, Gerardo Jimenez-Sanchez15, María José Gómez-Vázquez16, Julio Molina, Angel Carracedo17, Antonio Salas17, Carla Gallo18, Giovanni Poletti18, David B. Witonsky19, Gorka Alkorta-Aranburu19, Rem I. Sukernik20, Ludmila P. Osipova20, Sardana A. Fedorova, René Vasquez, Mercedes Villena, Claudia Moreau21, Ramiro Barrantes22, David L. Pauls2, Laurent Excoffier23, Laurent Excoffier24, Gabriel Bedoya7, Francisco Rothhammer25, Jean-Michel Dugoujon26, Georges Larrouy26, William Klitz27, Damian Labuda21, Judith R. Kidd28, Kenneth K. Kidd28, Anna Di Rienzo19, Nelson B. Freimer29, Alkes L. Price1, Alkes L. Price2, Andres Ruiz-Linares3 
16 Aug 2012-Nature
TL;DR: It is shown 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.
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.

696 citations

Journal ArticleDOI
13 Jun 2014-Science
TL;DR: Pre-Columbian genetic substructure is recapitulated in the indigenous ancestry of admixed mestizo individuals across the country, and two independently phenotyped cohorts of Mexicans and Mexican Americans showed a significant association between subcontinental ancestry and lung function.
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.

416 citations

Journal ArticleDOI
TL;DR: The notion that a haplotype map of the Mexican Mestizo population can reduce the number of tag SNPs required to characterize common genetic variation in this population is supported.
Abstract: Mexico is developing the basis for genomic medicine to improve healthcare of its population. The extensive study of genetic diversity and linkage disequilibrium structure of different populations has made it possible to develop tagging and imputation strategies to comprehensively analyze common genetic variation in association studies of complex diseases. We assessed the benefit of a Mexican haplotype map to improve identification of genes related to common diseases in the Mexican population. We evaluated genetic diversity, linkage disequilibrium patterns, and extent of haplotype sharing using genomewide data from Mexican Mestizos from regions with different histories of admixture and particular population dynamics. Ancestry was evaluated by including 1 Mexican Amerindian group and data from the HapMap. Our results provide evidence of genetic differences between Mexican subpopulations that should be considered in the design and analysis of association studies of complex diseases. In addition, these results support the notion that a haplotype map of the Mexican Mestizo population can reduce the number of tag SNPs required to characterize common genetic variation in this population. This is one of the first genomewide genotyping efforts of a recently admixed population in Latin America.

356 citations

Journal ArticleDOI
TL;DR: Studies show that ABCD3 is involved in transport of branched-chain fatty acids and C27 bile acids into the peroxisome and that this is a crucial step in bile acid biosynthesis.
Abstract: ABCD3 is one of three ATP-binding cassette (ABC) transporters present in the peroxisomal membrane catalyzing ATP-dependent transport of substrates for metabolic pathways localized in peroxisomes. So far, the precise function of ABCD3 is not known. Here, we report the identification of the first patient with a defect of ABCD3. The patient presented with hepatosplenomegaly and severe liver disease and showed a striking accumulation of peroxisomal C27-bile acid intermediates in plasma. Investigation of peroxisomal parameters in skin fibroblasts revealed a reduced number of enlarged import-competent peroxisomes. Peroxisomal beta-oxidation of C26:0 was normal, but beta-oxidation of pristanic acid was reduced. Genetic analysis revealed a homozygous deletion at the DNA level of 1758bp, predicted to result in a truncated ABCD3 protein lacking the C-terminal 24 amino acids (p.Y635NfsX1). Liver disease progressed and the patient required liver transplantation at 4 years of age but expired shortly after transplantation. To corroborate our findings in the patient, we studied a previously generated Abcd3 knockout mouse model. Abcd3-/- mice accumulated the branched chain fatty acid phytanic acid after phytol loading. In addition, analysis of bile acids revealed a reduction of C24 bile acids, whereas C27-bile acid intermediates were significantly increased in liver, bile and intestine of Abcd3-/- mice. Thus, both in the patient and in Abcd3-/- mice, there was evidence of a bile acid biosynthesis defect. In conclusion, our studies show that ABCD3 is involved in transport of branched-chain fatty acids and C27 bile acids into the peroxisome and that this is a crucial step in bile acid biosynthesis.

103 citations

Journal ArticleDOI
TL;DR: The burden of GDM and the current evidence that supports maternal nutritional interventions as a promising strategy to break the cycle by addressing risk factors associated with GDM are reviewed.
Abstract: Gestational diabetes mellitus (GDM) is currently defined as glucose intolerance that is of variable severity with onset or first recognition during pregnancy. The Hyperglycemia and Adverse Pregnancy Outcome Study, including 25 000 nondiabetic pregnant women in 15 centers across the world, reported that an average of 17.8% of pregnancies are affected by GDM and its frequency can be as high as 25.5% in some countries, based on the International Association of Diabetes and Pregnancy Study Groups criteria. Nevertheless, true global prevalence estimates of GDM are currently lacking due to the high level of heterogeneity in screening approaches, diagnostic criteria, and differences in the characteristics of the populations that were studied. The presence of systemic high blood glucose levels in pregnancy results in an adverse intrauterine environment, which has been shown to have a negative impact on short- and long-term health outcomes for both the mother and her offspring, including increased risks for the infant to develop obesity and for both mother and child to develop type 2 diabetes mellitus later in life. Epigenetic mechanisms that are directly influenced by environmental factors, including nutrition, may play a key role in shaping these future health risks and may be part of this vicious cycle. This article reviews the burden of GDM and the current evidence that supports maternal nutritional interventions as a promising strategy to break the cycle by addressing risk factors associated with GDM.

61 citations


Cited by
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TL;DR: Van Kampen as mentioned in this paper provides an extensive graduate-level introduction which is clear, cautious, interesting and readable, and could be expected to become an essential part of the library of every physical scientist concerned with problems involving fluctuations and stochastic processes.
Abstract: N G van Kampen 1981 Amsterdam: North-Holland xiv + 419 pp price Dfl 180 This is a book which, at a lower price, could be expected to become an essential part of the library of every physical scientist concerned with problems involving fluctuations and stochastic processes, as well as those who just enjoy a beautifully written book. It provides an extensive graduate-level introduction which is clear, cautious, interesting and readable.

3,647 citations

Journal ArticleDOI
24 Dec 2004-Science

1,949 citations

Journal ArticleDOI
11 Jun 2015-Nature
TL;DR: In this paper, the authors generated genome-wide data from 69 Europeans who lived between 8,000-3,000 years ago by enriching ancient DNA libraries for a target set of almost 400,000 polymorphisms.
Abstract: We generated genome-wide data from 69 Europeans who lived between 8,000-3,000 years ago by enriching ancient DNA libraries for a target set of almost 400,000 polymorphisms. Enrichment of these positions decreases the sequencing required for genome-wide ancient DNA analysis by a median of around 250-fold, allowing us to study an order of magnitude more individuals than previous studies and to obtain new insights about the past. We show that the populations of Western and Far Eastern Europe followed opposite trajectories between 8,000-5,000 years ago. At the beginning of the Neolithic period in Europe, ∼8,000-7,000 years ago, closely related groups of early farmers appeared in Germany, Hungary and Spain, different from indigenous hunter-gatherers, whereas Russia was inhabited by a distinctive population of hunter-gatherers with high affinity to a ∼24,000-year-old Siberian. By ∼6,000-5,000 years ago, farmers throughout much of Europe had more hunter-gatherer ancestry than their predecessors, but in Russia, the Yamnaya steppe herders of this time were descended not only from the preceding eastern European hunter-gatherers, but also from a population of Near Eastern ancestry. Western and Eastern Europe came into contact ∼4,500 years ago, as the Late Neolithic Corded Ware people from Germany traced ∼75% of their ancestry to the Yamnaya, documenting a massive migration into the heartland of Europe from its eastern periphery. This steppe ancestry persisted in all sampled central Europeans until at least ∼3,000 years ago, and is ubiquitous in present-day Europeans. These results provide support for a steppe origin of at least some of the Indo-European languages of Europe.

1,332 citations

Journal ArticleDOI
Iosif Lazaridis1, Iosif Lazaridis2, Nick Patterson2, Alissa Mittnik3, Gabriel Renaud4, Swapan Mallick1, Swapan Mallick2, Karola Kirsanow5, Peter H. Sudmant6, Joshua G. Schraiber6, Joshua G. Schraiber7, Sergi Castellano4, Mark Lipson8, Bonnie Berger8, Bonnie Berger2, Christos Economou9, Ruth Bollongino5, Qiaomei Fu4, Kirsten I. Bos3, Susanne Nordenfelt2, Susanne Nordenfelt1, Heng Li2, Heng Li1, Cesare de Filippo4, Kay Prüfer4, Susanna Sawyer4, Cosimo Posth3, Wolfgang Haak10, Fredrik Hallgren11, Elin Fornander11, Nadin Rohland1, Nadin Rohland2, Dominique Delsate12, Michael Francken3, Jean-Michel Guinet12, Joachim Wahl, George Ayodo, Hamza A. Babiker13, Hamza A. Babiker14, Graciela Bailliet, Elena Balanovska, Oleg Balanovsky, Ramiro Barrantes15, Gabriel Bedoya16, Haim Ben-Ami17, Judit Bene18, Fouad Berrada19, Claudio M. Bravi, Francesca Brisighelli20, George B.J. Busby21, Francesco Calì, Mikhail Churnosov22, David E. C. Cole23, Daniel Corach24, Larissa Damba, George van Driem25, Stanislav Dryomov26, Jean-Michel Dugoujon27, Sardana A. Fedorova28, Irene Gallego Romero29, Marina Gubina, Michael F. Hammer30, Brenna M. Henn31, Tor Hervig32, Ugur Hodoglugil33, Aashish R. Jha29, Sena Karachanak-Yankova34, Rita Khusainova35, Elza Khusnutdinova35, Rick A. Kittles30, Toomas Kivisild36, William Klitz7, Vaidutis Kučinskas37, Alena Kushniarevich38, Leila Laredj39, Sergey Litvinov38, Theologos Loukidis40, Theologos Loukidis41, Robert W. Mahley42, Béla Melegh18, Ene Metspalu43, Julio Molina, Joanna L. Mountain, Klemetti Näkkäläjärvi44, Desislava Nesheva34, Thomas B. Nyambo45, Ludmila P. Osipova, Jüri Parik43, Fedor Platonov28, Olga L. Posukh, Valentino Romano46, Francisco Rothhammer47, Francisco Rothhammer48, Igor Rudan13, Ruslan Ruizbakiev49, Hovhannes Sahakyan50, Hovhannes Sahakyan38, Antti Sajantila51, Antonio Salas52, Elena B. Starikovskaya26, Ayele Tarekegn, Draga Toncheva34, Shahlo Turdikulova49, Ingrida Uktveryte37, Olga Utevska53, René Vasquez54, Mercedes Villena54, Mikhail Voevoda55, Cheryl A. Winkler56, Levon Yepiskoposyan50, Pierre Zalloua1, Pierre Zalloua57, Tatijana Zemunik58, Alan Cooper10, Cristian Capelli21, Mark G. Thomas41, Andres Ruiz-Linares41, Sarah A. Tishkoff59, Lalji Singh60, Kumarasamy Thangaraj61, Richard Villems62, Richard Villems38, Richard Villems43, David Comas63, Rem I. Sukernik26, Mait Metspalu38, Matthias Meyer4, Evan E. Eichler6, Joachim Burger5, Montgomery Slatkin7, Svante Pääbo4, Janet Kelso4, David Reich64, David Reich1, David Reich2, Johannes Krause4, Johannes Krause3 
Harvard University1, Broad Institute2, University of Tübingen3, Max Planck Society4, University of Mainz5, University of Washington6, University of California, Berkeley7, Massachusetts Institute of Technology8, Stockholm University9, University of Adelaide10, The Heritage Foundation11, National Museum of Natural History12, University of Edinburgh13, Sultan Qaboos University14, University of Costa Rica15, University of Antioquia16, Rambam Health Care Campus17, University of Pécs18, Al Akhawayn University19, Catholic University of the Sacred Heart20, University of Oxford21, Belgorod State University22, University of Toronto23, University of Buenos Aires24, University of Bern25, Russian Academy of Sciences26, Paul Sabatier University27, North-Eastern Federal University28, University of Chicago29, University of Arizona30, Stony Brook University31, University of Bergen32, Illumina33, Sofia Medical University34, Bashkir State University35, University of Cambridge36, Vilnius University37, Estonian Biocentre38, University of Strasbourg39, Amgen40, University College London41, Gladstone Institutes42, University of Tartu43, University of Oulu44, Muhimbili University of Health and Allied Sciences45, University of Palermo46, University of Chile47, University of Tarapacá48, Academy of Sciences of Uzbekistan49, Armenian National Academy of Sciences50, University of North Texas51, University of Santiago de Compostela52, University of Kharkiv53, Higher University of San Andrés54, Novosibirsk State University55, Leidos56, Lebanese American University57, University of Split58, University of Pennsylvania59, Banaras Hindu University60, Centre for Cellular and Molecular Biology61, Estonian Academy of Sciences62, Pompeu Fabra University63, Howard Hughes Medical Institute64
18 Sep 2014-Nature
TL;DR: It is shown that most present-day Europeans derive from at least three highly differentiated populations: west European hunter-gatherers, who contributed ancestry to all Europeans but not to Near Easterners; ancient north Eurasians related to Upper Palaeolithic Siberians; and early European farmers, who were mainly of Near Eastern origin but also harboured west Europeanhunter-gatherer related ancestry.
Abstract: We sequenced the genomes of a ∼7,000-year-old farmer from Germany and eight ∼8,000-year-old hunter-gatherers from Luxembourg and Sweden. We analysed these and other ancient genomes with 2,345 contemporary humans to show that most present-day Europeans derive from at least three highly differentiated populations: west European hunter-gatherers, who contributed ancestry to all Europeans but not to Near Easterners; ancient north Eurasians related to Upper Palaeolithic Siberians, who contributed to both Europeans and Near Easterners; and early European farmers, who were mainly of Near Eastern origin but also harboured west European hunter-gatherer related ancestry. We model these populations' deep relationships and show that early European farmers had ∼44% ancestry from a 'basal Eurasian' population that split before the diversification of other non-African lineages.

1,077 citations

Journal ArticleDOI
TL;DR: It is demonstrated that scores inferred from European GWASs are biased by genetic drift in other populations even when choosing the same causal variants and that biases in any direction are possible and unpredictable.
Abstract: The vast majority of genome-wide association studies (GWASs) are performed in Europeans, and their transferability to other populations is dependent on many factors (e.g., linkage disequilibrium, allele frequencies, genetic architecture). As medical genomics studies become increasingly large and diverse, gaining insights into population history and consequently the transferability of disease risk measurement is critical. Here, we disentangle recent population history in the widely used 1000 Genomes Project reference panel, with an emphasis on populations underrepresented in medical studies. To examine the transferability of single-ancestry GWASs, we used published summary statistics to calculate polygenic risk scores for eight well-studied phenotypes. We identify directional inconsistencies in all scores; for example, height is predicted to decrease with genetic distance from Europeans, despite robust anthropological evidence that West Africans are as tall as Europeans on average. To gain deeper quantitative insights into GWAS transferability, we developed a complex trait coalescent-based simulation framework considering effects of polygenicity, causal allele frequency divergence, and heritability. As expected, correlations between true and inferred risk are typically highest in the population from which summary statistics were derived. We demonstrate that scores inferred from European GWASs are biased by genetic drift in other populations even when choosing the same causal variants and that biases in any direction are possible and unpredictable. This work cautions that summarizing findings from large-scale GWASs may have limited portability to other populations using standard approaches and highlights the need for generalized risk prediction methods and the inclusion of more diverse individuals in medical genomics.

1,073 citations