Clinical Epidemiology

Research line n.2: Molecular Epidemiology

 

Staff

Group leader: GIORGIO FEDERICI

University Universita' degli Studi di ROMA "Tor Vergata"
MEDICINE and SURGERY
DIPARTIMENTO DI MEDICINA INTERNA


1. EUGENIO POMPEO UNIVERSITA' DI ROMA TOR VERGATA DIPARTIMENTO DI CHIRURGIA
2. ALESSANDRO MAURIELLO UNIVERSITA' DI ROMA TOR VERGATA DIPARTIMENTO DI BIOPATOLOGIA
3. TOMMASO CLAUDIO MINEO UNIVERSITA' DI ROMA TOR VERGATA DIPARTIMENTO DI CHIRURGIA

 

 

 

Research activity

In order to increase the clinical power of our findings (Res. Line 1), we will evaluate the impact of putative risk alleles in combination with others risk factors specific for any complex disease considered (e.g. smoking, diet, lifestyle) on some outcome (e.g. lung cancer, diabetes complications) to assess homogeneity (or lack thereof) of the patient sample with respect to potential confounding variables (e.g. age, gender). This goal will reached by appropriate epidemiological studies. As a first step of these studies we will test the genetic heterogeneity of the study participants using a panel of randomly distributed SNPs and searching for clusters of genetically similar individuals. This evaluation is important to establish risk assessment (see Research line 3). To support genetic data, we propose to perform in heathy first degree relatives (FDR) of patients recruited in the study extensive in-depth characterizations of the "marker" allele, identified during the various phases of our project. This will allow a more correct definition of subgroups of patients with familiar predisposition to disease under study, on the basis of their genetic background. These healthy subjects will then be studied and followed to identify early stage of the disease and its complications. Thus, we aim to classify FDR patients, standing from their genomic risk, in more definite subgroups. This will allow us to identify specific predisposition to develop all or only some of the characteristics of disease (e.g. in type 2 diabetes: insulin resistance and obesity respect to beta-cell failure and coronary heart disease) on the basis of correlation of their genetic background with environment (nutrition factors, lifestyle, environmental factors). This new molecular epidemiological approach, based on correlations between specific genetic factors and peculiar metabolic characteristics of the disease and its complications, will help in developing new strategies for the prevention of common complex diseases.


Financial support

Amount (ML) 140
Source(s) MURST; CNR;

 

Five recent papers


1) Marcucci R, Prisco D, Brunelli T, Pepe G, Gori AM, Fedi S, Capanni M, Simonetti I, Federici G, Pastore A, Abbate R, Gensini GF Tissue factor and homocysteine levels in ischemic heart disease are associated with angiographically documented clinical recurrences after coronary angioplasty.Thromb Haemost 2000 Jun;83(6):826-32

2) Mazza A, Motti C, Nulli A, Marra G, Gnasso A, Pastore A, Federici G, Cortese C Lack of association between carotid intima-media thickness and methylenetetrahydrofolate reductase gene polymorphism or serum homocysteine in non-insulin-dependent diabetes mellitus.Metabolism 2000 Jun;49(6):718-23

3) Gnasso A, Motti C, Irace C, Carallo C, Liberatoscioli L, Bernardini S, Massoud R, Mattioli PL, Federici G, Cortese C Genetic variation in human stromelysin gene promoter and common carotid geometry in healthy male subjects.Arterioscler Thromb Vasc Biol 2000 Jun;20(6):1600-5

4) Rizzo C, Dionisi-Vici C, D'Ippoliti M, Fina F, Sabetta G, Federici G A simple and rapid HPLC method for simultaneous determination of plasma 7-dehydrocholesterol and vitamin E: its application in Smith-Lemli-Opitz patients Clin Chim Acta 2000 Jan 20;291(1):97-102

5) Pastore A, Lo Russo A, Greco M, Rizzoni G, Federici G Semiautomated method for determination of cystine concentration in polymorphonuclear leukocytes. Clin Chem 2000 Apr;46(4):574-6