A5076044221- Forensic and Genetic Research
- Genetic diversity and population structure
- Forensic Anthropology and Bioarchaeology Studies
- Molecular Biology Techniques and Applications
- T-cell and B-cell Immunology
- Genetic Associations and Epidemiology
- Renal cell carcinoma treatment
- Migration, Aging, and Tourism Studies
- Blood groups and transfusion
- Genetic Mapping and Diversity in Plants and Animals
- Genomics and Phylogenetic Studies
- Archaeology and ancient environmental studies
- Genetic and phenotypic traits in livestock
- Digestive system and related health
- Historical and socio-economic studies of Spain and related regions
- Yersinia bacterium, plague, ectoparasites research
- Renal and related cancers
- Immunotherapy and Immune Responses
- Sexual Differentiation and Disorders
- Chromosomal and Genetic Variations
- Aging, Health, and Disability
- Race, Genetics, and Society
- Spondyloarthritis Studies and Treatments
- Testicular diseases and treatments
- Prion Diseases and Protein Misfolding
University of the Basque Country
2011-2024
Tufts Medical Center
2023
Instituto de Investigación Sanitaria Aragón
2021-2022
Hospital Clínico San Carlos
2022
World Health Organization Regional Office for the Americas
2020
Pontificia Universidad Católica de Chile
2018-2019
Puigvert Foundation
2009-2015
Universitat Autònoma de Barcelona
2015
University of Zulia
2009
Hospital Universitario Reina Sofía
2002
Abstract: In this work, a sample of 112 individuals from an autochthonous Basque population (Northern Navarre, Spain) were typed at the DNA level for HLA‐DQA1 locus, with aim characterizing its polymorphism and analyzing genetic relationships Navarrese other Caucasian populations. Northern Navarre is neighboring area Guipúzcoa, province located in core territory having highest proportion Basque‐speakers. population, most frequent alleles DQA1 * 01 (0.375) 02 (0.259). Frequency clines both...
Genomic diversity of the Qatari population was investigated by screening 15 autosomal short tandem repeats (STRs). Significant departures from genetic equilibrium were detected at D13S317, D19S433 and VWA loci, which persisted after applying Bonferroni-type corrections. Gene (GD) values ranged 0.6851 (TPOX) to 0.8813 (D2S1338), while observed heterozygosity (Ho) oscillated between 0.3388 (D19S433) 0.8397 (D2S1338). Interestingly, Ho lower than expected (He) for 14 loci analyzed. The...
This study provides a more complete characterization of the mitochondrial genome variability Basques, including data on hypervariable segment HVII D-loop region, which remains relatively unknown. To that end, genomic DNA from 55 healthy men living in Arratia Valley (Biscay province) and Goiherri region (Guipúzcoa was examined by direct sequencing. Three-generation pedigree charts were compiled to ensure collection autochthonous individuals. The most notable findings emerging analysis...
This study reports the findings of research aimed at determining rate prevalence attention deficit hyperactivity disorder (ADHD) in children school age.The epidemiological was conducted using a community sample extracted by means multi stage stratified sampling according to socio economic level and schooling consisted 1,141 both sexes age from city Maracaibo. The revised Conners scales were used collect data.The estimated ADHD 7.19% we also obtained 0.35% for hyperactive type, 1.14%...
SummaryThe distribution of apolipoprotein E (apo E) polymorphism was examined in 11 population groups not previously studied for this system. There is a marked difference phenotype and gene frequency between the populations England Spain. The south European Basques Spanish non-Basques showed greater similarity to South Asia. study clearly indicates that apo alleles does match with regions showing high mortality rate coronary heart disease. data presented also indicate authochthon such as...
Abstract Autochthonous Basques are thought to be a trace from the human population contraction that occurred during Last Glacial Maximum, based mainly on salient frequencies and coalescence ages registered for haplogroups V, H1, H3 of mitochondrial DNA in current Basque populations. However, variability maternal lineages still remains relatively unexplored an important fraction Iberian community. In this study, diversity Navarre (North Spain) was addressed first time. To end, HVS‐I HVS‐II...
The European genetic landscape has been shaped by several human migrations occurred since Paleolithic times. accumulation of archaeological records and the concordance different lines evidence during last two decades have triggered an interesting debate concerning role ancient settlers from Franco-Cantabrian region in postglacial resettlement Europe. Among populations, Basques are regarded as one oldest more intriguing groups Recent data on complete mitochondrial DNA genomes focused...
In this work, eight human-specific Alu insertion polymorphisms (ACE, TPA25, PV92, APO, FXIIIB, D1, A25, and B65) were typed in 106 unrelated healthy individuals born the province of Valencia (Spain), with aim analyzing genetic relationships between region Iberian Peninsula other Mediterranean populations. To that end, data on Eastern European, Western North African populations compiled from previous studies. The information was stressed by means distances (R matrix method), nonmetric...
This study aimed to assess the potential epidemiological and economic impact of rapid initiation human immunodeficiency virus (HIV) treatment with bictegravir/emtricitabine/tenofovir alafenamide (B/F/TAF) on HIV transmission compared current observed in clinical practice Spain.A model was adapted estimate cumulative infection incidence cost savings based number infections prevented among men who have sex men, heterosexual males females, people inject drugs (PWID) over a 20-year time horizon....
Analysis of the interaction between mortality patterns and opportunity for natural selection could help to elucidate potential evolutionary implications epidemic mortality. In this paper secular trends are studied in relation Crow's index (It) its components (Im) fertility (If), using parish records family reconstitution a Basque population. A principal analysis (91% variance accounted for) showed marked quantitative qualitative variations Im If depending on stage demographic transition...
Abstract Objectives: We seek to evaluate the influence of a diverse and rugged physical environment on genetic background human populations. Methods: analyzed eight polymorphic Alu insertions in 226 individuals from Jujuy province (Argentina), which is composed several regions with well‐defined geographical features marked contrasts between them associated differences altitude (range: 700‐3300 m). This regional division was used assess spatial variation diversity. Results: Deviations...
This work analyzes the spatial heterogeneity of consanguinity in Basque province Guipúzcoa (Spain), using data provided by Catholic dispensations (1862-1980). Secular trends rates (%M(C)) and mean inbreeding coefficient (F) were similar seven Guipúzcoan regions considered, with peaks between 1881-1920 subsequently a gradual decline. Substantial differences characteristics emerged when classified according to level urbanization. Principal component analysis (accounting for more than 85% total...
Late-onset Alzheimer's disease (LOAD) is associated with changes in certain proteins, such as ApoE and Cyp46A1, of the elimination route for cerebral cholesterol. The main lipoprotein involved its transport whose Epsilon4 allele least efficient. However, presence or absence this does not determine development LOAD, which implies existence other susceptibility factors disease, CYP46A1 gene that encodes enzyme cholesterol 24S-hydroxylase.To find new data to contribute evaluation whether T...
This work was intended to gain insights into the admixture processes occurring in Latin American populations by examining genetic profiles of two ethnic groups from Antioquia (Colombia).To analyse variability, eight Alu insertions were typed 64 Afro-Colombians and a reference group 34 Hispanics (Mestizos). Admixture proportions estimated using Weighted Least Squares Gene Identity methods. The usefulness elements as Ancestry Informative Markers (AIMs) evaluated through differences weighted...
Abstract Objectives: The Amazon basin is inhabited by some of the most isolated human groups worldwide. Among them, Waorani tribe one interesting Native American populations from anthropological perspective. This study reports a genetic characterization based on autosomal loci. Methods: We analyzed 12 polymorphic Alu insertions in 36 individuals different communal longhouses settled Yasuní National Park. Results: notable finding was strikingly reduced diversity detected Waorani, corroborated...