Andrés Ruiz‐Linares
A5081207747- Forensic and Genetic Research
- Genetic Associations and Epidemiology
- Genetic diversity and population structure
- Genetic and phenotypic traits in livestock
- Race, Genetics, and Society
- Genomic variations and chromosomal abnormalities
- Genomics and Phylogenetic Studies
- melanin and skin pigmentation
- Molecular Biology Techniques and Applications
- Genetic Mapping and Diversity in Plants and Animals
- dental development and anomalies
- Autism Spectrum Disorder Research
- Forensic Anthropology and Bioarchaeology Studies
- Bipolar Disorder and Treatment
- Morphological variations and asymmetry
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Pancreatic function and diabetes
- Genomics and Rare Diseases
- Skin Protection and Aging
- Genetics and Neurodevelopmental Disorders
- Cleft Lip and Palate Research
- Obsessive-Compulsive Spectrum Disorders
- Chromosomal and Genetic Variations
- Hair Growth and Disorders
- Indigenous Studies and Ecology
Centre National de la Recherche Scientifique
2016-2024
University College London
2015-2024
Aix-Marseille Université
2016-2024
Fudan University
2016-2024
Ministry of Education of the People's Republic of China
2023
Universitat Politècnica de Catalunya
2023
Pierre Fabre (Germany)
2021
Peruvian University of Applied Sciences
2021
Compart (Germany)
2021
Centro de Investigación de la Caña de Azúcar de Colombia
2021
Abstract Mutations of alleles at microsatellite loci tend to result in with repeat scores similar those the from which they were derived. Therefore difference score between carries information about amount time that has passed since shared a common ancestral allele. This is ignored by genetic distances based on infinite model. Here we develop distance stepwise mutation model includes allelic score. We adapt earlier treatments show analytically expectation this linear function time. then use...
We introduce a new genetic distance for microsatellite loci, incorporating features of the stepwise mutation model, and test its performance on polymorphisms in humans, chimpanzees, gorillas. find that it performs well determining relations among primates, but less than other measures (not based model) closely related human populations. However, deepest split phylogeny seems to be accurately reconstructed by separates African non-African The is independent population size therefore allows...
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...
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 within over 1000 individuals representing 20 indigenous 11 mestizo populations. found striking genetic stratification among populations at varying degrees geographic isolation. Some groups were as differentiated Europeans are East Asians. Pre-Columbian substructure is recapitulated in the ancestry admixed across...
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...
Human monogenic pain syndromes have provided important insights into the molecular mechanisms that underlie normal and pathological states.We describe an autosomal-dominant familial episodic syndrome characterized by episodes of debilitating upper body pain, triggered fasting physical stress.Linkage haplotype analysis mapped this phenotype to a 25 cM region on chromosome 8q12-8q13.Candidate gene sequencing identified point mutation (N855S) in S4 transmembrane segment TRPA1, key sensor for...
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...
Duplications and deletions in the human genome can lead to variation copy number for genes genomic loci among humans. Such variants reveal evolutionary patterns have implications health. Sudmant et al. examined copy-number across 236 individual genomes from 125 populations. Deletions were under more selection, whereas duplications showed population-specific structure. Interestingly, Oceanic populations retain large postulated originated an ancient Denisovan lineage. Science , this issue...
The direct estimation of heritability from genome-wide common variant data as implemented in the program Genome-wide Complex Trait Analysis (GCTA) has provided a means to quantify attributable all interrogated variants. We have quantified variance liability disease explained by SNPs for two phenotypically-related neurobehavioral disorders, obsessive-compulsive disorder (OCD) and Tourette Syndrome (TS), using GCTA. Our analysis yielded point estimate 0.58 (se = 0.09, p 5.64e-12) TS, 0.37...
European Americans are often treated as a homogeneous group, but in fact form structured population due to historical immigration of diverse source populations. Discerning the ancestry genotyped association studies is important order prevent false-positive or false-negative associations stratification and identify genetic variants whose contribution disease risk differs across ancestries. Here, we investigate empirical patterns structure Americans, analyzing 4,198 samples from four...
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...
Although it is well established that Hispanics generally have a mixed Native American, African, and European ancestry, the dynamics of admixture at foundation Hispanic populations heterogeneous poorly documented. Genetic analyses are potentially very informative for probing early demographic history these populations. Here we evaluate genetic structure province in northwest Colombia (Antioquia), which prior indicate was founded mostly by Spanish men native women. We examined surname, Y...
There is great scientific and popular interest in understanding the genetic history of populations Americas. We wish to understand when different regions continent were inhabited, where settlers came from, how current inhabitants relate genetically earlier populations. Recent studies unraveled parts using genotyping arrays uniparental markers. The 1000 Genomes Project provides a unique opportunity for improving our population by providing over hundred sequenced low coverage genomes exomes...
Colombia is a country with great geographic heterogeneity and marked regional differences in pre-Columbian native population density the extent of past African European immigration. As result, has one most diverse populations Latin America. Here we evaluated ancestry over 1,700 individuals from 24 Colombian using biparental (autosomal X-Chromosome), maternal (mtDNA), paternal (Y-chromosome) markers. Autosomal varies markedly both within between regions, confirming genetic diversity...
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...