Giovanni Battista Maestrale


Area of interest:

Dr. Giovanni Battista Maestralegraduated in Biological Sciences at the University of Sassari in 1994. He works at the CNR since 2000. His research activity from 2000 to 201has been focused onthe study of multifactorial diseases in isolated Sardinian populations.  In particular, he worked on hypertension and kidney stoneMoreover, he worked on measuring the levels of circulating proteins in human serum such as insulin, leptin, leptin’s receptor, ACE (angiotensin converting enzyme) and VEGF (vascular endothelial growth factor) using commercial ELISA assaysThe aim was to identify novel loci associated with circulating levels of these proteins through a genome-wide association meta-analysis. From 2013 to 2019 his activities were focused on study of Tortrix viridana, the principal pest of Sardinia’s oak tree forests, in order to understand which genes were involved in the adaptation of the moth to the phenology of the plant host and to the environment. At present, from 2019, his activity is focalized to diagnostic analysis of mutations in Kras, Nras e Braf genes and MSI (Bethesda panel) in colon rectal malignant tumor. 

Most significant publications:


Choi, Seung Hoan; Ruggiero, Daniela; Sorice, Rossella; Song, Ci; Nutile, Teresa; Smith, Albert Vernon; Concas, Maria Pina; Traglia, Michela; Barbieri, Caterina; Ndiaye, Ndeye Coumba; Stathopoulou, Maria G; Lagou, Vasiliki; Maestrale, Giovanni Battista; Sala, Cinzia; Debette, Stephanie; Kovacs, Peter; Lind, Lars; Lamont, John; Fitzgerald, Peter; Tönjes, Anke; Gudnason, Vilmundur; Toniolo, Daniela; Pirastu, Mario; Bellenguez, Celine; Vasan, Ramachandran S; Ingelsson, Erik; Leutenegger, Anne-Louise; Johnson, Andrew D; DeStefano, Anita L; Visvikis-Siest, Sophie; Seshadri, Sudha; Ciullo, Marina

Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies Journal Article

In: PLoS genetics, 12 (2), pp. e1005874, 2016, ISSN: 1553-7404.

Abstract | Links | BibTeX


Guida, V.; Chiappe, F.; Ferese, R.; Usala, G.; Maestrale, G.; Iannascoli, C.; Bellacchio, E.; Mingarelli, R.; Digilio, M. C.; Marino, B.; Uda, M.; De Luca, A.; Dallapiccola, B.

Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot Journal Article

In: Clin Genet, 80 (6), pp. 591–594, 2011.


Tore, S.; Casula, S.; Casu, G.; Concas, M. P.; Pistidda, P.; Persico, I.; Sassu, A.; Maestrale, G. B.; Mele, C.; Caruso, M. R.; Bonerba, B.; Usai, P.; Deiana, I.; Thornton, T.; Pirastu, M.; Forabosco, P.

Application of a new method for GWAS in a related case/control sample with known pedigree structure: identification of new loci for nephrolithiasis Journal Article

In: PLoS Genet, 7 (1), pp. e1001281, 2011.

Abstract | BibTeX