Alessandro De Grandi
- Genetic Associations and Epidemiology
- Genetic and phenotypic traits in livestock
- Cardiac electrophysiology and arrhythmias
- Liver Disease Diagnosis and Treatment
- Renal Diseases and Glomerulopathies
- Cardiomyopathy and Myosin Studies
- Genetic Mapping and Diversity in Plants and Animals
- SARS-CoV-2 and COVID-19 Research
- Parkinson's Disease Mechanisms and Treatments
- Muscle metabolism and nutrition
- Amino Acid Enzymes and Metabolism
- Chronic Kidney Disease and Diabetes
- Forensic and Genetic Research
- COVID-19 Clinical Research Studies
- Metabolism and Genetic Disorders
- Diet and metabolism studies
- Restless Legs Syndrome Research
- Molecular Biology Techniques and Applications
- Genetic diversity and population structure
- Thyroid Disorders and Treatments
- Ethics in Clinical Research
- Sexual Differentiation and Disorders
- Genomics and Rare Diseases
- Exercise and Physiological Responses
- Biomedical Research and Pathophysiology
Institute for Biomedicine
2014-2025
Eurac Research
2015-2025
Azienda Socio Sanitaria Territoriale di Cremona
2018
Istituti Ospitalieri di Cremona
2018
University of Lübeck
2009-2015
Telethon Institute Of Genetics And Medicine
1999-2000
Increased levels of the urinary albumin-to-creatinine ratio (UACR) are associated with higher risk kidney disease progression and cardiovascular events, but underlying mechanisms incompletely understood. Here, we conduct trans-ethnic (n = 564,257) European-ancestry specific meta-analyses genome-wide association studies UACR, including ancestry- diabetes-specific analyses, identify 68 UACR-associated loci. Genetic correlation analyses score associations in an independent electronic medical...
Abstract The Cooperative Health Research in South Tyrol (CHRIS) is a longitudinal study Northern Italy, using dynamic consent since its inception 2011. CHRIS collects health data and biosamples for research, foresees regular follow-ups over time. We describe the experience with consent, providing an overview of conceptualization implementation, participant-centered strategies used to assess improve process, directly linked participation communication. In order comply high ethical standards...
The Cooperative Health Research In South Tyrol (CHRIS) study is a population-based with longitudinal lookout to investigate the genetic and molecular basis of age-related common chronic conditions their interaction life style environment in general population. All adults middle upper Vinschgau/Val Venosta are invited, while 10,000 participants anticipated by mid-2017. Family participation encouraged for complete pedigree reconstruction disease inheritance mapping. After pilot on compliance...
Abstract The QT interval is an electrocardiographic measure representing the sum of ventricular depolarization and repolarization, estimated by QRS duration JT interval, respectively. abnormalities are associated with potentially fatal arrhythmia. Using genome-wide multi-ancestry analyses (>250,000 individuals) we identify 177, 156 121 independent loci for QT, QRS, respectively, including a male-specific X-chromosome locus. gene-based rare-variant methods, associations Mendelian disease...
There is increasing evidence of the important role that small, isolated populations could play in finding genes involved etiology diseases. For historical and political reasons, South Tyrol, northern most Italian region, includes several villages small dimensions which remained over centuries. The MICROS study a population-based survey on three villages, characterized by: old settlement; number founders; high endogamy rates; slow/null population expansion. During stage-1 (2002/03)...
Abstract Background The study of circulating blood proteins in population cohorts offers new avenues to explore lifestyle-related and genetic influences describing shaping human health. Methods Utilizing high-throughput mass spectrometry, we quantified 148 highly abundant proteins, functioning the innate adaptive immune system, coagulation nutrient transport 3632 plasma, 500 serum samples from CHRIS BASE-II cross-sectional studies, respectively. Through multiple regression analyses, aimed...
Abstract Background Plasma proteomics offers new avenues to explore non-genetic associations, such as biomarkers for lifestyle and environmental exposure in population studies. To date, most proteomic investigations studies have utilized affinity-reagent based technologies, which are ideal quantify the low abundant fraction of circulating proteome but may omit several proteins that function plasma. Methods Utilizing high throughput mass spectrometry, we quantified 148 highly protein groups...
Genetic contributions to restless legs syndrome (RLS) have been consistently recognized from population and family studies. To determine the clinical genetic features of RLS in a isolate explore linkage three previously described susceptibility loci on chromosomes 12q, 14q, 9p, respectively, an isolated South Tyrolean Alps was identified 530 adults participated study. Using two-step strategy, 47 patients with idiopathic were ascertained. The prevalence 8.9%. Twenty-eight (59.6%) had at least...
Biological plausibility and other prior information could help select genome-wide association (GWA) findings for further follow-up, but there is no consensus on which types of knowledge should be considered or how to weight them. We used experts' opinions empirical evidence estimate the relative importance 15 at single-nucleotide polymorphism (SNP) gene levels. Opinions were elicited from 10 experts using a two-round Delphi survey. Empirical was obtained by comparing frequency each type...
Most of the inhabitants South Tyrol in eastern Italian Alps can be considered isolated populations because their physical separation by mountain barriers and sociocultural heritage. We analyzed genetic structure Tyrolean using three types markers: Y-chromosome, mitochondrial DNA (mtDNA), autosomal Alu markers. Using random samples taken from Val Venosta, Pusteria, Isarco, Badia, Gardena, we calculated diversity within among populations. Microsatellite unique event polymorphism (on Y...
ABSTRACT Prioritization is the process whereby a set of possible candidate genes or SNP s ranked so that most promising can be taken forward into further studies. In genome‐wide association study, prioritization usually based on P ‐values alone, but researchers sometimes take account external annotation information about such as whether lies close to good gene. Using in this way inherently subjective and often not formalized, making analysis difficult reproduce. Building previous work has...