Italian Genome-Wide Database (IGDB)

• Characterization of the genetic structure of the Italian population from control samples used in previous genome-wide association studies.
• The database will be freely available on the net.
• This information will help to clarify the genetic origins of the Italian population , and allow us to optimize the design of case-control studies as well as for forensic purposes.

Prof. Giuseppe Matullo, Prof. Alberto Piazza,

Prof. Daniele Cusi, Chairman Division of Nephrology, San Paolo Hospital, Milano, Director, Genomics and Bioinformatics Platform, Fondazione Filarete University of Milano
Prof. Anna Maria Di Blasio, Istituto Auxologico Italiano, Cusano Milanino (MI), Italia
Dr. Paola Manzini, Banca del Sangue, San Giovanni-Molinette Hospital, Turin, Italia
Prof. Irma Dianzani, Department of Health Sciences, University of Eastern Piedmont, Novara, Italia
Prof. Nicola Glorioso, Hypertension and Related Diseases Center, AOU, University of Sassari, Sassari, Italia
Prof. Stefano Bonassi, Unit of Clinical and Molecular Epidemiology, IRCCS San Raffaele Pisana, Roma, Italia
HuGeF-Università di Torino: Cornelia Di Gaetano, Giovanni Fiorito, Simonetta Guarrera.

The first result was the creation of a database of Italian Genome-Wide studies (IGDB) from both the controls used in these GWAS. This database has enabled us to reconstruct in detail the genetic structure Italian. This work based on common markers stressed that within the Italian peninsula there is a genetic structure strong enough to cause bias in future association studies while, special attention needs to be paid when studying Sardinia samples. This information will help to optimize the design of case-control studies performed in our nation. It was also possible to identify the genetic effect of the recent internal migration. The results of this work have been published in an international scientific journal [1]. The work then continued with the study of Sardinia, which is one of the populations with most peculiar genetic background in Europe. This work was made possible thanks to the collaboration between HuGeF (Variability Genomics Research Group in Human Populations and Complex Diseases), the Department of Medical Sciences, University of Turin and the University of Sassari, and revealed some important characteristics of Sardinian's genome [2].This research has confirmed the internal homogeneity of the Sardinians and their genetic characteristics.

In collaboration with Prof. Daniela Toniolo ( Division of Genetics and Cell Biology , San Raffaele Scientific Institute , Milan , Italy ) and Prof. Paolo Gasparini ( Department of Medical , Surgical and Health Sciences , University of Trieste and Institute for Maternal and Child Health IRCCS ' Burlo Garofalo ' , Trieste ) will construct a reference map of the rare variants of the Italian population that will serve for the identification of genetic markers associated with rare parameters of health , applicable to the Italian population .
Main references
1. Di Gaetano C, Voglino F, Guarrera S, Fiorito G, Rosa F, et al. (2012) An overview of the genetic structure within the Italian population from genome-wide data. PLoS One 7: e43759.
2. Di Gaetano C, Fiorito G, Ortu MF, Rosa F, Guarrera S, et al. (2014) Sardinians genetic background explained by runs of homozygosity and genomic regions under positive selection. PLoS One 9: e91237.
3. Campanella G, Polidoro S, Di Gaetano C, Fiorito G, Guarrera S, et al. (2014) Epigenetic signatures of internal migration in Italy. Int J Epidemiol.

Description of GWAs samples available in the consortium


Nome dello studio

Malattia / Fenotipo

Num. controlli


HuGeF - University of Turin (G. Matullo)

Progetto Genoma Italia

Genetica di Popolazioni



300 (in progress)

Illumina HumanOmni 1M

Illumina 2.5M

HuGeF - University of Turin (G. Matullo)

University of Eastern Piedmont (I.Dianzani, C.Magnani)

IRCCS San Raffaele Pisana (S. Bonassi)

Italian Mesothelioma Study



Illumina HumanCNV370

DIBIT- San Raffaele Milano
Fondazione Filarete, University of Milano (D. Cusi)

Hypertension and Related Disease Center, AOU,
University of Sassari (N. Glorioso)




Illumina HumanOmni 1M

CNR Pavia (D. Toniolo)

Val Borbera

Isolato Genetico


Illumina HumanCNV370

Istituto Auxologico Italiano - Milano (A.M. Di Blasio)

Banca del Sangue San Giovanni,
Ospedale Molinette - Torino (P. Manzini)




Illumina Human610

University of Verona (G. Malerba)



Illumina Human610

HGDP - Human Genome Diversity Project


Variabilità genetica


Illumina HumHap550

1000 Genomes - A catalog of human genetic variation

Hapmap / 1000genomes

Variabilità genetica



Description of available EWAs samples


Nome dello studio

Malattia / Fenotipo

Num. Controlli


HuGeF - University of Turin (G. Matullo)

Istituto Superiore Sanità (R. Crebelli, F. Marcon)



20 coppie gemelli MZ

Illumina Infinium HumanMethylation450

Oher EWAs from the same group:

1. Campanella, G., Polidoro, S., Di Gaetano, C., Fiorito, G., Guarrera, S., Krogh, V., Palli, D., Panico, S., Sacerdote, C., Tumino, R., Elliott, P., Matullo, G., Chadeau-Hyam, M. & Vineis, P. Epigenetic signatures of internal migration in Italy. International journal of epidemiology Oct 15. pii: dyu198 (2014).

2. Fiorito, G., Guarrera, S., Valle, C., Ricceri, F., Russo, A., Grioni, S., Mattiello, A., Di Gaetano, C., Rosa, F., Modica, F., Iacoviello, L., Frasca, G., Tumino, R., Krogh, V., Panico, S., Vineis, P., Sacerdote, C. & Matullo, G. B-vitamins intake, DNA-methylation of One Carbon Metabolism and homocysteine pathway genes and myocardial infarction risk: the EPICOR study. Nutrition, metabolism, and cardiovascular diseases 24, 483-8 (2014).

For collaboration and to apply for access to the Italian Genome-Wide Database (IGDB) dataset please write to the following address: