Virginia Ramallo

Centro Nacional Patagonico · Patagonian Institute of Social and Human Sciences

Objectives: To describe the frequency of hospitalizations of infants under 1 year of age with bronchiolitis in Puerto Madryn, Argentina, and to study the spatial distribution of cases throughout the city in relation to socioeconomic indicators. To visualize and better understand the underlying processes behind the local manifestation of the diseas...

We report a genome-wide association study of facial features in >6000 Latin Americans based on automatic landmarking of 2D portraits and testing for association with inter-landmark distances. We detected significant associations (P-value <5 × 10 −8) at 42 genome regions, nine of which have been previously reported. In follow-up analyses, 26 of the...

El objetivo de la presente investigación es describir la variación espacial y temporal de las Muertes Fetales Intrauterinas en Argentina a partir de datos provenientes de la Dirección de Estadísticas e Información de Salud (DEIS) del Ministerio de Salud, utilizando el grupo de causas de muerte seleccionadas para la mortalidad perinatal con sus códi...

Throughout human evolutionary history, large-scale migrations have led to intermixing (i.e., admixture) between previously separated human groups. Although classical and recent work have shown that studying admixture can yield novel historical insights, the extent to which this process contributed to adaptation remains underexplored. Here, we intro...

We report a genome-wide association study for facial features in > 6,000 Latin Americans. We placed 106 landmarks on 2D frontal photographs using the cloud service platform Face++. After Procrustes superposition, genome-wide association testing was performed for 301 inter-landmark distances. We detected nominally significant association (P-value <...

Throughout human evolutionary history, large-scale migrations have led to intermixing (i.e., admixture) between previously separated human groups. While classical and recent work have shown that studying admixture can yield novel historical insights, the extent to which this process contributed to adaptation remains underexplored. Here, we introduc...

Este trabajo se integra en el proyecto de investigación “Frecuencia de hospitalización de lactantes con Bronquiolitis en el Hospital Zonal de Puerto Madryn (Argentina) durante el 2017”. Con aval para realizar el proyecto citado ut supra (de fecha 15/12/2017) por el Comité de Docencia e Investigación del Hospital Zonal “Dr. Andrés R. Isola”. Esta c...

The study of surnames for a given population, together with their distribution and spatial patterns identification, has been a long-standing problem in the fields of human biology, public health, and social sciences. The ancestry inferred from surname information can be a useful means to understand the dynamics of human populations. This knowledge...

Self-perception of ethnicity is a complex social trait shaped by both, biological and non-biological factors. We developed a comprehensive analysis of ethnic self-perception (ESP) on a large sample of Latin American mestizos from five countries, differing in age, socio-economic and education context, external phenotypic attributes and genetic backg...

Background: Genome-wide association studies (GWAS) have identified genes influencing skin ageing and mole count in Europeans but little is known about the relevance of these (or other genes) in non-Europeans. Objective: To conduct a GWAS for facial skin ageing and mole count in adults < 40 years old, of mixed European, Native American and Africa...

Here we evaluate the accuracy of prediction for eye, hair and skin pigmentation in a dataset of > 6,500 individuals from Mexico, Colombia, Peru, Chile and Brazil (including genome-wide SNP data and quantitative/categorical pigmentation phenotypes - the CANDELA dataset CAN). We evaluated accuracy in relation to different analytical methods and vario...

To characterize the genetic basis of facial features in Latin Americans, we performed a genome-wide association study (GWAS) of more than 6000 individuals using 59 landmark-based measurements from two-dimensional profile photographs and ~9,000,000 genotyped or imputed single-nucleotide polymorphisms. We detected significant association of 32 traits...

El Gran Chaco es uno de los biomas de las Tierras Bajas sudamericanas más recientemente poblados por los seres humanos, ha mantenido su diversidad etnolingüística y muestra evidencias de la existencia de contactos interétnicos. El objetivo de este trabajo es reconocer estructuración genética en la fracción nativa de los linajes paternos en las pobl...

We report an evaluation of prediction accuracy for eye, hair and skin pigmentation based on genomic and phenotypic data for over 6,500 admixed Latin Americans (the CANDELA dataset). We examined the impact on prediction accuracy of three main factors: (i) The methods of prediction, including classical statistical methods and machine learning approac...

Current point cloud extraction methods based on photogrammetry generate large amounts of spurious detections that hamper useful 3D mesh reconstructions or, even worse, the possibility of adequate measurements. Moreover, noise removal methods for point clouds are complex, slow and incapable to cope with semantic noise. In this work, we present body2...

Similarly to other populations across the Americas, Argentinean populations trace back their genetic ancestry into African, European and Native American ancestors, reflecting a complex demographic history with multiple migration and admixture events in pre- and post-colonial times. However, little is known about the sub-continental origins of these...

La investigación biomédica está contemplando cada vez más la ancestría genética de las poblaciones, con vistas a potenciales aplicaciones en la prevención sanitaria y en el tratamiento de dolencias población- específicas. Los objetivos fueron indagar sobre la formación en genética, universitaria y posuniversitaria, de médicos/as del país, y relacio...

Several studies have shown that the Brazilian Northeast is a region with high rates of inbreeding as well as a high incidence of autosomal recessive diseases. The elaboration of public health policies focused on the epidemiological surveillance of congenital anomalies and rare genetic diseases in this region is urgently needed. However, the vast te...

Objectives: The diagnosis and treatment of obesity are usually based on traditional anthropometric variables including weight, height, and several body perimeters. Here we present a three-dimensional (3D) image-based computational approach aimed to capture the distribution of abdominal adipose tissue as an aspect of shape rather than a relationshi...

Objectives: This article aims to assess the contribution of genomic ancestry and socioeconomic status to obesity in a sample of admixed Latin Americans. Methods: The study comprised 6776 adult volunteers from Brazil, Chile, Colombia, Mexico, and Peru. Each volunteer completed a questionnaire about socioeconomic variables. Anthropometric variable...

We report a genome-wide association scan in >6,000 Latin Americans for pigmentation of skin and eyes. We found eighteen signals of association at twelve genomic regions. These include one novel locus for skin pigmentation (in 10q26) and three novel loci for eye pigmentation (in 1q32, 20q13 and 22q12). We demonstrate the presence of multiple indepen...

Historical records and genetic analyses indicate that Latin Americans trace their ancestry mainly to the intermixing (admixture) of Native Americans, Europeans and Sub-Saharan Africans. Using novel haplotype-based methods, here we infer sub-continental ancestry in over 6,500 Latin Americans and evaluate the impact of regional ancestry variation on...

Evteev and Heuzé (1) state that there is no evidence supporting that Chinese, Japanese and Korean populations exhibit cold-adaptation features. However, several facial traits present on these groups were previously interpreted as cold-climate adaptations (2-9). For instance, a composite sample including Chinese, Japanese and Korean individuals show...

We analyzed 391 samples from 12 Argentinian populations from the Center-West, East and North-West regions with the Illumina Human Exome Beadchip v1.0 (HumanExome-12v1-A). We did Principal Components analysis to infer patterns of populational divergence and migrations. We identified proportions and patterns of European, African and Native American a...

CV values for K 2 to 10. The lowest CV is for K = 9. (TIF)

Sampled populations. List of populations included with their coordinates in decimal degrees format, distance to Buenos Aires, region assigned and N. (XLS)

Paired distances and Fsts. (XLS)

Geographic distribution of ancestry components. a: Native American (whole) b: Andean c: Non-Andean, d: LWK, e: YRI, f: European 1, g: European 2, h: European 3, i: European 4 j: European 5 (TIF)

Scatterplot between paired Fsts (y axis) and paired distance between populations (x axis). There is a correlation between paired linear distances and paired Fsts (p < 0.001). (TIF)

Residual plot for the Treemix results. S3 Fig shows Argentinian populations pooled by region and the GBR, CEU, TSI and IBS reference panels from the 1000 Genomes Project. (TIF)

Historical records and genetic analyses indicate that Latin Americans trace their ancestry mainly to the admixture of Native Americans, Europeans and Sub-Saharan Africans ¹ . Using novel haplotype-based methods here we infer the sub-populations involved in admixture for over 6,500 Latin Americans and evaluate the impact of sub-continental ancestry...

Facial asymmetries are usually measured and interpreted as proxies to developmental noise. However, analyses focused on its developmental and genetic architecture are scarce. To advance on this topic, studies based on a comprehensive and simultaneous analysis of modularity, morphological integration and facial asymmetries including both phenotypic...

En este trabajo se evalúa la relación entre la asimetría fluctuante facial (AFF) y los tratamientos hormonales, cirugías maxilofaciales, ortodoncia, traumatismos y malformaciones. En el marco del proyecto CANDELA, se tomaron cinco fotografías faciales de 3162 voluntarios entre los 18 y 85 años. Por fotogrametría se colocaron 34 landmarks o puntos e...

Previously, mitochondrial DNA (mtDNA) lineages of Native Americans were typically grouped as only five haplogroups: A, B, C, D and X. However, advances in molecular techniques have allowed investigators to further delineate the existence of at least thirteen lineages differentiated before arrival in America. Definition of mitochondrial lineages wit...

Significance Due to its role in humidifying and warming the air before it reaches the lungs, adaptations in the internal nasal anatomy are suspected to have been essential for modern humans and Neanderthals during the settlement of Eurasian harsh landscapes. Unfortunately, the lack of soft-tissue evidence in the fossil record precludes any study of...

The expression of facial asymmetries has been recurrently related with poverty and/or disadvantaged socioeconomic status. Departing from the developmental instability theory, previous approaches attempted to test the statistical relationship between the stress experienced by individuals grown in poor conditions and an increase in facial and corpora...

The expression of facial asymmetries has been recurrently related with poverty and/or disadvantaged socioeconomic status. Departing from the developmental instability theory, previous approaches attempted to test the statistical relationship between the stress experienced by individuals grown in poor conditions and an increase in facial and corpora...

Sample characteristics regarding sample sizes, FFA mean values, standard deviation and variance by country and sex for heterozygosity corrected and uncorrected data. (DOCX)

Database: raw data excel file. (XLSX)

Computation of a Wealth Index multivariate estimator. (DOCX)

Neste capítulo resume-se a dispersão do Homo sapiens, desde seu surgimento na África até o povoamento do continente americano. A busca pelo esclarecimento sobre tão instigante temática advém de várias áreas do conhecimento: arqueologia, paleoantropologia, geoclimatologia, linguística e genética, disciplina que foi particularmente revisada aqui. Nos...

Accurate gathering of phenotypic information is a key aspect in several subject matters, including biometrics, biomedical analysis, forensics, and many other. Automatic identification of anatomical structures of biometric interest, such as fingerprints, iris patterns, or facial traits, are extensively used in applications like access control and an...

The 'omics' era and its concomitant technological advances have brought great insight into genetics. One of the most promising fields within human genetics is the prediction of physical traits from analysis of genetic material. Besides the predictive potential of DNA, the traceability of pathogenic agents in the human body through molecular analysi...

When migrating, people carry their cultural and genetic history, changing both the transmitting and the receiving populations. This phenomenon changes the structure of the population of a country. The question is how to analyze the impact on the border region. A demographic and geopolitical analysis of borders requires an interdisciplinary approach...

We report a genome-wide association scan for facial features in ∼6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P values<5 × 10(-8)) at single-nucleotide polymorphisms (SNPs) in four genomic regions for three nose-related traits: columella inclination (4q31), nose bridge breadth (6p21) and nose...

We report a genome-wide association scan in over 6,000 Latin Americans for features of scalp hair (shape, colour, greying, balding) and facial hair (beard thickness, monobrow, eyebrow thickness). We found 18 signals of association reaching genome-wide significance (P values 5 × 10(-8) to 3 × 10(-119)), including 10 novel associations. These include...

En este capítulo se resume la dispersión del Homo sapiens, desde su surgimiento en África hasta el poblamiento del continente americano. La búsqueda por comprender tan interesante temática atraviesa varias áreas de conocimiento: arqueología, paleoantropología, geo-climatología, lingüística y genética, disciplina que fue particularmente revisada aqu...

N-acetyltransferase 2 (NAT2) is responsible for metabolizing xenobiotics; NAT2 polymorphisms lead to three phenotypes: rapid, intermediate and slow acetylators. We aimed to investigate NAT2 diversity in Native Americans. NAT2 exon 2 was sequenced for 286 individuals from 21 populations (Native American and American Mestizos). Excluding the basal/ra...

N-acetyltransferase 2 (NAT2) is responsible for metabolizing xenobiotics; NAT2 polymorphisms lead to three phenotypes: rapid, intermediate and slow acetylators. We aimed to investigate NAT2 diversity in Native Americans. NAT2 exon 2 was sequenced for 286 individuals from 21 populations (Native American and American Mestizos). Excluding the basal/ra...

The diversity of the five single nucleotide polymorphisms located in genes of the TP53 pathway (TP53, rs1042522; MDM2, rs2279744; MDM4, rs1563828; USP7, rs1529916; and LIF, rs929271) were studied in a total of 282 individuals belonging to Quechua, Aymara, Chivay, Cabanaconde, Yanke, Taquile, Amantani, Anapia, Uros, Guarani Ñandeva, and Guarani Kaio...

Here we report a genome-wide association study for non-pathological pinna morphology in over 5,000 Latin Americans. We find genome-wide significant association at seven genomic regions affecting: lobe size and attachment, folding of antihelix, helix rolling, ear protrusion and antitragus size (linear regression P values 2 Â 10 À 8 to 3 Â 10 À 14)....

Here we report a genome-wide association study for non-pathological pinna morphology in over 5,000 Latin Americans. We find genome-wide significant association at seven genomic regions affecting: lobe size and attachment, folding of antihelix, helix rolling, ear protrusion and antitragus size (linear regression P values 2 × 10(-8) to 3 × 10(-14))....