Giovanni Battista Maestrale

@article{choi_six_2016,

title = {Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies},

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

doi = {10.1371/journal.pgen.1005874},

issn = {1553-7404},

year  = {2016},

date = {2016-02-01},

journal = {PLoS genetics},

volume = {12},

number = {2},

pages = {e1005874},

abstract = {Vascular endothelial growth factor (VEGF) is an angiogenic and neurotrophic factor, secreted by endothelial cells, known to impact various physiological and disease processes from cancer to cardiovascular disease and to be pharmacologically modifiable. We sought to identify novel loci associated with circulating VEGF levels through a genome-wide association meta-analysis combining data from European-ancestry individuals and using a dense variant map from 1000 genomes imputation panel. Six discovery cohorts including 13,312 samples were analyzed, followed by in-silico and de-novo replication studies including an additional 2,800 individuals. A total of 10 genome-wide significant variants were identified at 7 loci. Four were novel loci (5q14.3, 10q21.3, 16q24.2 and 18q22.3) and the leading variants at these loci were rs114694170 (MEF2C},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid22040217,

title = {Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot},

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

year  = {2011},

date = {2011-12-01},

journal = {Clin Genet},

volume = {80},

number = {6},

pages = {591--594},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid21283782,

title = {Application of a new method for GWAS in a related case/control sample with known pedigree structure: identification of new loci for nephrolithiasis},

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

year  = {2011},

date = {2011-01-01},

journal = {PLoS Genet},

volume = {7},

number = {1},

pages = {e1001281},

abstract = {In contrast to large GWA studies based on thousands of individuals and large meta-analyses combining GWAS results, we analyzed a small case/control sample for uric acid nephrolithiasis. Our cohort of closely related individuals is derived from a small, genetically isolated village in Sardinia, with well-characterized genealogical data linking the extant population up to the 16(th) century. It is expected that the number of risk alleles involved in complex disorders is smaller in isolated founder populations than in more diverse populations, and the power to detect association with complex traits may be increased when related, homogeneous affected individuals are selected, as they are more likely to be enriched with and share specific risk variants than are unrelated, affected individuals from the general population. When related individuals are included in an association study, correlations among relatives must be accurately taken into account to ensure validity of the results. A recently proposed association method uses an empirical genotypic covariance matrix estimated from genome-screen data to allow for additional population structure and cryptic relatedness that may not be captured by the genealogical data. We apply the method to our data, and we also investigate the properties of the method, as well as other association methods, in our highly inbred population, as previous applications were to outbred samples. The more promising regions identified in our initial study in the genetic isolate were then further investigated in an independent sample collected from the Italian population. Among the loci that showed association in this study, we observed evidence of a possible involvement of the region encompassing the gene LRRC16A, already associated to serum uric acid levels in a large meta-analysis of 14 GWAS, suggesting that this locus might lead a pathway for uric acid metabolism that may be involved in gout as well as in nephrolithiasis.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}