Andrea Maschio
A5034327821- Genetic Associations and Epidemiology
- Liver Disease Diagnosis and Treatment
- Forensic and Genetic Research
- Advanced MRI Techniques and Applications
- Platelet Disorders and Treatments
- T-cell and B-cell Immunology
- Hepatocellular Carcinoma Treatment and Prognosis
- Hemoglobinopathies and Related Disorders
- Immune Cell Function and Interaction
- Genetic diversity and population structure
- Cardiac Imaging and Diagnostics
- Genetic and phenotypic traits in livestock
- Colorectal Cancer Surgical Treatments
- Renal and Vascular Pathologies
- Genomics and Rare Diseases
- Ultrasound and Hyperthermia Applications
- Obesity, Physical Activity, Diet
- Forensic Anthropology and Bioarchaeology Studies
- Genetic Mapping and Diversity in Plants and Animals
- Nutrition, Genetics, and Disease
- RNA modifications and cancer
- Folate and B Vitamins Research
- Cardiovascular Disease and Adiposity
- Personality Disorders and Psychopathology
- Genetic Syndromes and Imprinting
Institute of Genetic and Biomedical Research
2014-2025
National Research Council
2015-2025
National Academies of Sciences, Engineering, and Medicine
2024
University of Michigan–Ann Arbor
2009-2017
Michigan United
2014
San Raffaele University of Rome
1990-2010
National Institute on Aging
2009
National Institutes of Health
2007-2009
United States Department of Veterans Affairs
2009
University of Maryland, Baltimore
2009
The obesity epidemic is responsible for a substantial economic burden in developed countries and major risk factor type 2 diabetes cardiovascular disease. disease the result not only of several environmental factors, but also genetic predisposition. To take advantage recent advances gene-mapping technology, we executed genome-wide association scan to identify variants associated with obesity-related quantitative traits genetically isolated population Sardinia. Initial analysis suggested that...
beta-Thalassemia and sickle cell disease both display a great deal of phenotypic heterogeneity, despite being generally thought as simple Mendelian diseases. The reasons for this are not well understood, although the level fetal hemoglobin (HbF) is one characterized ameliorating factor in these conditions. To better understand genetic basis we carried out genome-wide scans with 362,129 common SNPs on 4,305 Sardinians to look linkage association HbF levels, other red blood cell-related...
PURPOSE: To determine the potential efficacy of radio-frequency (RF) ablation liver metastases during long-term follow-up. MATERIALS AND METHODS: Sixteen patients with 31 hepatic were treated percutaneous, ultrasound-guided RF ablation. was applied to monopolar electrodes (2-3-cm tip exposure) either individually or within a multiprobe array (two four probes) for 6 minutes at 90 degrees C over one treatment sessions per metastasis. RESULTS: In only 75 sessions, moderate complication,...
Genomewide association studies of autoimmune diseases have mapped hundreds susceptibility regions in the genome. However, only for a few signals has causal gene been identified, and even fewer variant underlying mechanism defined. Coincident associations DNA variants affecting both risk disease quantitative immune variables provide an informative route to explore mechanisms drug-targetable pathways.Using case-control samples from Sardinia, Italy, we performed genomewide study multiple...
High serum uric acid levels elevate pro-inflammatory–state gout crystal arthropathy and place individuals at high risk for cardiovascular morbidity mortality. Genome-wide scans in the genetically isolated Sardinian population identified variants associated with as a quantitative trait. They mapped within GLUT9, Chromosome 4 glucose transporter gene predominantly expressed liver kidney. SNP rs6855911 showed strongest association (p = 1.84 × 10−16), along eight others 7.75 10−16 to 6.05...
Diet impacts human health, influencing body adiposity and the risk of developing cardiometabolic diseases. The gut microbiome is a key player in diet-health axis, but while its bacterial fraction widely studied, role micro-eukaryotes, including Blastocystis, underexplored. We performed global-scale analysis on 56,989 metagenomes showed that Blastocystis exhibits distinct prevalence patterns linked to geography, lifestyle, dietary habits. presence defined specific signature was positively...
DNA sequencing identifies common and rare genetic variants for association studies, but studies typically focus on in nuclear ignore the mitochondrial genome. In fact, analyzing (mtDNA) sequences presents special problems, which we resolve here with a general solution analysis of mtDNA next-generation studies. The new program package comprises 1) an algorithm designed to identify (i.e., homoplasmies heteroplasmies), incorporating error rates at each base likelihood calculation allowing...
Identifying the genes that influence levels of pro-inflammatory molecules can help to elucidate mechanisms underlying this process. We first conducted a two-stage genome-wide association scan (GWAS) for key inflammatory biomarkers Interleukin-6 (IL-6), general measure inflammation erythrocyte sedimentation rate (ESR), monocyte chemotactic protein-1 (MCP-1), and high-sensitivity C-reactive protein (hsCRP) in large cohort individuals from founder population Sardinia. By analysing 731,213...
Genetic variation within the male-specific portion of Y chromosome (MSY) can clarify origins contemporary populations, but previous studies were hampered by partial genetic information. Population sequencing 1204 Sardinian males identified 11,763 MSY single-nucleotide polymorphisms, 6751 which have not previously been observed. We constructed a phylogenetic tree containing all main haplogroups found in Europe, along with many Sardinian-specific lineage clusters each haplogroup. The was...
Genome sequencing of the 5,300-year-old mummy Tyrolean Iceman, found in 1991 on a glacier near border Italy and Austria, has yielded new insights into his origin relationship to modern European populations. A key finding that study was an apparent recent common ancestry with individuals from Sardinia, based largely Y chromosome haplogroup autosomal SNP variation. Here, we compiled analyzed genomic datasets both ancient Europeans, including genome sequence data over 400 Sardinians two...