Clinical Epidemiology

Research line n.3: Diagnostic and risk profiling

 

Staff

Group leader: LUIGI GIUSTO SPAGNOLI

Universita' degli Studi di ROMA "Tor Vergata"
MEDICINE AND SURGERY
DIPARTIMENTO DI BIOPATOLOGIA E DIAGNOSTICA PER IMMAGINI


1. BATTISTINI LUCA TOR VERGATA DIPARTIMENTO DI NEUROSCIENZE
2. FRANCESCO ROMEO TOR VERGATA DIPARTIMENTO DI MEDICINA INTERNA

 

Research activity

Once a SNP or SNP-based haplotype is identified which associated with diseases included in the project (WP2), we will use this information to develop diagnostic and/or prognostic tools based on that SNP. The assessment of the utility and applicability will based on epidemiological studies and functional results (see Research line 2 and WP 1). However, considering that complex diseases are influenced by genetic and non-genetic factors (diet, life style etc.) we will include in the risk evaluation also the impact of factor to establish accurate prediction. Each diagnostic test developed will accurately evaluated by determining its validity. Measurements of validity will be established measuring their clinical sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV)with respect to disease occurrence. Sensitivity in this context is defined as the probability of a positive genetic test result among people who will develop disease, specificity is the probability of a negative genetic test results among people without the disease, PPV is the probability of developing disease among people with a positive test result, and NPV is the probability of not developing disease among people with a negative test result. The parameters needed to estimate these measurements will be obtained from case-control studies and from population-based registries (WP1-3). Population-based case-control studies will be integrated by functional laboratory data (WP1) in order to quantify the magnitude of disease risks in our population, to estimate the population attributable risk for the disease due to specified risk factors, and to estimate the absolute risk for disease. Specific softwares will be developed to assess the clinical validity of genetic tests and to estimate the lifetime risk for disease (penetrance) among carriers of disease-susceptibility genotypes.


Financial support

Amount (ML) 115
Source(s) MURST; MAYO CLINIC FOUNDATION; CNR

Five recent papers


1) MAURIELLO A., SANGIORGI G., PALMIERI G., PISTOLESE R., IPPOLITI A. and SPAGNOLI L.G.
Hyperfibrinogenemia and hypertriglyceridemia influence the histo-cytologic composition of atherosclerotic carotid plaques.
Atherosclerosis, 1997, 134 :162

2)PRATICO D, IULIANO L, MAURIELLO A, SPAGNOLI L.G., LAWSON JA, MACLOUF J, VIOLI F, FITZGERALD GA.
Localization of distinct F2-isoprostanes in human atherosclerotic lesions.
J Clin Invest 1997, 100(8), 2028-2034

3) KWON HM, SANGIORGI G, SPAGNOLI L.G., MIYAUCHI K, HOLMES DR JR, SCHWARTZ RS, LERMAN A
Experimental hypercholesterolemia induces ultrastructural changes in the internal elastic lamina of porcine coronary arteries.
Atherosclerosis 1998 Aug;139(2):283-9

4) SANGIORGI G, HASDAI D, MAURIELLO A, HOLMES DR Jr., SCHWARTZ RS, LERMAN A and SPAGNOLI L.G.
Increase rate of spontaneous cell death characterizes the vessel wall structural changes associated with early coronary atherosclerosis in porcine arteries.
J Hearth Disease, 1: 77, 1999

5) BONANNO E, MAURIELLO A, PARTENZI A and SPAGNOLI L.G.
Flow cytometry analysis of atherosclerotic plaque cells from human carotids: a validation study.
Cytometry, 2000, 39, 158-65