Francisco Rothhammer
A5022063392- Forensic and Genetic Research
- Forensic Anthropology and Bioarchaeology Studies
- Archaeology and ancient environmental studies
- Genetic and phenotypic traits in livestock
- Genetic diversity and population structure
- Pleistocene-Era Hominins and Archaeology
- Race, Genetics, and Society
- Migration, Education, Indigenous Social Dynamics
- Environmental and Cultural Studies in Latin America and Beyond
- Genetic Associations and Epidemiology
- High Altitude and Hypoxia
- Attention Deficit Hyperactivity Disorder
- melanin and skin pigmentation
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Genomics and Phylogenetic Studies
- Dermatoglyphics and Human Traits
- dental development and anomalies
- Paleopathology and ancient diseases
- Morphological variations and asymmetry
- Alcohol Consumption and Health Effects
- Public Health and Social Inequalities
- Latin American history and culture
- Pacific and Southeast Asian Studies
- Cultural and Social Studies in Latin America
- Metabolism and Genetic Disorders
University of Tarapacá
2016-2025
University of Chile
2012-2022
Biogéosciences
2022
Université Bourgogne Franche-Comté
2022
École Pratique des Hautes Études
2022
Centre National de la Recherche Scientifique
2022
Instituto de Neurociencia Biomédica
2012
Research Center for Integrated Disaster Risk Management
2012
Tampere University
2002
Dirección de Investigación y Desarrollo
2001
We examined genetic diversity and population structure in the American landmass using 678 autosomal microsatellite markers genotyped 422 individuals representing 24 Native populations sampled from North, Central, South America. These data were analyzed jointly with similar available 54 other indigenous worldwide, including an additional five groups. The have lower greater differentiation than continental regions. observe gradients both of decreasing as a function geographic distance Bering...
The large and diverse population of Latin America is potentially a powerful resource for elucidating the genetic basis complex traits through admixture mapping. However, no genome-wide characterization across has yet been attempted. Here, we report an analysis in thirteen Mestizo populations (i.e. regions mainly European Native settlement) from seven countries based on data 678 autosomal 29 X-chromosome microsatellites. We found extensive variation American ancestry (and generally low levels...
The current genetic makeup of Latin America has been shaped by a history extensive admixture between Africans, Europeans and Native Americans, process taking place within the context geographic social stratification. We estimated individual ancestry proportions in sample 7,342 subjects ascertained five countries (Brazil, Chile, Colombia, México Perú). These individuals were also characterized for range physical appearance traits self-perception ancestry. distribution this reveals population...
Abstract We report a genome-wide association scan for facial features in ∼6,000 Latin Americans. evaluated 14 traits on an ordinal scale and found significant ( P values<5 × 10 −8 ) at single-nucleotide polymorphisms (SNPs) four genomic regions three nose-related traits: columella inclination (4q31), nose bridge breadth (6p21) wing (7p13 20p11). In subsample of ∼3,000 individuals we obtained quantitative related to 9 the phenotypes and, also, measure nasion position. Quantitative analyses...
Abstract We report a genome-wide association scan in over 6,000 Latin Americans for features of scalp hair (shape, colour, greying, balding) and facial (beard thickness, monobrow, eyebrow thickness). found 18 signals reaching significance ( P values 5 × 10 −8 to 3 −119 ), including novel associations. These include loci shape balding, the first reported beard thickness. A newly identified locus influencing includes Q30R substitution Protease Serine S1 family member 53 PRSS53 ). demonstrate...
Abstract We report a genome-wide association scan in >6,000 Latin Americans for pigmentation of skin and eyes. found eighteen signals at twelve genomic regions. These include one novel locus (in 10q26) three loci eye 1q32, 20q13 22q12). demonstrate the presence multiple independent 11q14 15q13 regions (comprising GRM5/TYR HERC2/OCA2 genes, respectively) several epistatic interactions among independently associated alleles. Strongest with 19p13 was observed an Y182H missense variant...
Abstract The distribution of the four founding lineage haplogroups in Native Americans from North, Central, and South America shows a north to south increase frequency B North decrease A. All were detected America, Greenberg et al.'s ([1986] Curr. Anthropol. 27: 477–497) three major linguistic groups (Amerind, NaDene, Eskaleut), with all often found within single population. Lineage A was most common regardless language group. This overall is parsimonious wave migration into New World which...
Historical records and genetic analyses indicate that Latin Americans trace their ancestry mainly to the intermixing (admixture) of Native Americans, Europeans Sub-Saharan Africans. Using novel haplotype-based methods, here we infer sub-continental in over 6,500 evaluate impact regional variation on physical appearance. We find American components correspond geographically present-day structure groups, sources non-Native ancestry, admixture timings, match documented migratory flows. also...
Here we report a genome-wide association study for non-pathological pinna morphology in over 5,000 Latin Americans. We find significant at seven genomic regions affecting: lobe size and attachment, folding of antihelix, helix rolling, ear protrusion antitragus (linear regression P values 2 × 10(-8) to 3 10(-14)). Four traits are associated with functional variant the Ectodysplasin A receptor (EDAR) gene, key regulator embryonic skin appendage development. confirm expression Edar developing...
The mitochondrial DNAs (mtDNAs) from individuals belonging to three Chilean tribes, the Mapuche, Pehuenche, and Yaghan, were studied both by RFLP analysis D-loop (control region) sequencing. showed that 3 (1.3%) belonged haplogroup A, 19 (8%) B, 102 (43%) C, 113 (47.7%) D. Among 73 analyzed sequencing, we observed 37 different haplotypes defined 52 polymorphic sites. Joint of data obtained sequencing methods demonstrated that, regardless method analysis, mtDNA these contemporary South...
Background and Aims Gallbladder cancer (GBC) is a neglected disease with substantial geographical variability: Chile shows the highest incidence worldwide, while GBC relatively rare in Europe. Here, we investigate causal effects of risk factors considered current prevention programs as well C‐reactive protein (CRP) level marker chronic inflammation. Approach Results We applied two‐sample Mendelian randomization (MR) using publicly available data our own from retrospective Chilean prospective...
We carried out a genome-wide association study in Latin Americans and identified novel face morphology loci..
Abstract The quest for the origin and dispersion of Chagas' disease, second most important vector‐borne disease in Latin America, has epidemiological, immunological, genetical implications. Conjectures based on accounts chroniclers, reviews archaeological literature present distribution triatomine bugs, vectors held that adaptation Triatoma infestans (aspecies subfamily Triatominae) to human dwellings occurred prehistoric times. autopsy 35 mummies exhumed Chilean desert, dated between 470...
In 1972 a multidisciplinary study sought to assess the health status of indigenous peoples Department Arica in northern Chile, Aymara, and relate disease, morphological, physiological biochemical variation, wide changes altitude region. Presented here are morphological which accompany age, ethnicity amoung 1047 children adults, permanent residents coast, sierra altiplano. At comparable ages, high-altitude were shorter, lighter leaner but with more expansive rounder chests than sea-level...