Giovanni Poletti
A5004909250- Genetic and phenotypic traits in livestock
- Lymphoma Diagnosis and Treatment
- melanin and skin pigmentation
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Chronic Lymphocytic Leukemia Research
- Inhalation and Respiratory Drug Delivery
- Clinical Laboratory Practices and Quality Control
- Lung Cancer Treatments and Mutations
- Medical Imaging and Pathology Studies
- dental development and anomalies
- Hair Growth and Disorders
- Mast cells and histamine
- Hemoglobinopathies and Related Disorders
- Gastrointestinal disorders and treatments
- Meta-analysis and systematic reviews
- Genetic Associations and Epidemiology
- Acute Lymphoblastic Leukemia research
- Acute Myeloid Leukemia Research
- Eosinophilic Disorders and Syndromes
- Morphological variations and asymmetry
- Cleft Lip and Palate Research
- Genetic Mapping and Diversity in Plants and Animals
- Body Composition Measurement Techniques
- Neutropenia and Cancer Infections
- Skin Protection and Aging
University of Trento
2024
Azienda Unità Sanitaria Locale Della Romagna
2015-2024
Universidad Peruana Cayetano Heredia
2014-2023
Biogéosciences
2022
Université Bourgogne Franche-Comté
2022
École Pratique des Hautes Études
2022
Centre National de la Recherche Scientifique
2022
Centro di Ricerca per la Patologia Vegetale
2019
Azienda-Unita' Sanitaria Locale Di Cesena
2010-2017
Ospedale "Santa Maria delle Croci" di Ravenna
2016
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...
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...
Accurate gathering of phenotypic information is a key aspect in several subject matters, including biometrics, biomedical analysis, forensics, and many other. Automatic identification anatomical structures biometric interest, such as fingerprints, iris patterns, or facial traits, are extensively used applications like access control anthropological research, all having common the drawback requiring intrusive means for acquiring required information. In this regard, ear structure has multiple...
Abstract Throughout human evolutionary history, large-scale migrations have led to intermixing (i.e., admixture) between previously separated groups. Although classical and recent work shown that studying admixture can yield novel historical insights, the extent which this process contributed adaptation remains underexplored. Here, we introduce a statistical model, specific admixed populations, identifies loci under selection while determining whether likely occurred post-admixture or prior...
Abstract We report a genome-wide association study of facial features in >6000 Latin Americans based on automatic landmarking 2D portraits and testing for with inter-landmark distances. detected significant associations (P-value <5 × 10 −8 ) at 42 genome regions, nine which have been previously reported. In follow-up analyses, 26 the 33 novel regions replicate East Asians, Europeans, or Africans, one mouse homologous region influences craniofacial morphology mice. The 1q32.3 shows...
The understanding of the complex genotype-phenotype architecture human pigmentation has clear implications for evolutionary history humans, as well medical and forensic practices. Although dozens genes have previously been associated with skin color, knowledge about this trait remains incomplete. In particular, studies focusing on populations outside European-North American axis are rare, and, until now, admixed seldom considered. present study was designed to help fill gap. Our objective...
The molecular basis of advanced systemic mastocytosis (SM) is not fully understood and despite novel therapies the prognosis remains dismal. Exome sequencing an index-patient with mast cell leukemia (MCL) uncovered biallelic loss-of-function mutations in SETD2 histone methyltransferase gene. Copy-neutral loss-of-heterozygosity at 3p21.3 (where maps) was subsequently found SM patients prompted us to undertake in-depth analysis copy number, mutation status, transcript expression methylation...
ABSTRACT Fluctuating and directional asymmetry are aspects of morphological variation widely used to infer environmental genetic factors affecting facial phenotypes. However, the basis determinants both types is far from being completely known. The analysis asymmetries in admixed individuals can be help characterize impact a genome's heterozygosity on developmental fluctuating asymmetries. Here we association between ancestry individual sample Latin‐American populations. To do so,...
Abstract Objectives This article aims to assess the contribution of genomic ancestry and socioeconomic status obesity in a sample admixed Latin Americans. Methods The study comprised 6776 adult volunteers from Brazil, Chile, Colombia, Mexico, Peru. Each volunteer completed questionnaire about variables. Anthropometric variables such as weight, height, waist, hip circumference were measured calculate body indices: mass index, waist‐to‐hip ratio waist‐to‐height (WHtR). Genetic data extracted...
Hispanic/Latinos have been underrepresented in genome-wide association studies (GWAS) for anthropometric traits despite their notable variability, ancestry proportions, and high burden of growth stunting overweight/obesity. To address this knowledge gap, we analyzed densely imputed genetic data a sample Hispanic/Latino adults to identify fine-map variants associated with body mass index (BMI), height, BMI-adjusted waist-to-hip ratio (WHRadjBMI). We conducted GWAS 18 studies/consortia as part...
Repeated application of noxious stimuli leads to a progressively increased pain perception; this temporal summation is enhanced in and predictive clinical disorders. Its electrophysiological correlate "wind-up," which dorsal horn spinal neurons increase their response repeated nociceptor stimulation. To understand the genetic basis summation, we undertook GWAS wind-up healthy human volunteers found significant association with SLC8A3 encoding sodium-calcium exchanger type 3 (NCX3). NCX3 was...
Genome-wide association studies (GWASs) have identified genes influencing skin ageing and mole count in Europeans, but little is known about the relevance of these (or other genes) non-Europeans.To conduct a GWAS for facial adults < 40 years old, mixed European, Native American African ancestry, recruited Latin America.Skin scores were obtained from photographs over 6000 individuals. After quality control checks, three wrinkling traits retained genetic analyses. DNA samples genotyped with...