... 1 RCOST - Research Centre on Software Technology University of Sannio, Department of Engineering Palazzo ex Poste, Via Traiano, I-82100 Benevento, Italy 2 Institute of Genetic and Biophysics, “A. Buzzati Traverso”, CNR, Napoli... more
... 1 RCOST - Research Centre on Software Technology University of Sannio, Department of Engineering Palazzo ex Poste, Via Traiano, I-82100 Benevento, Italy 2 Institute of Genetic and Biophysics, “A. Buzzati Traverso”, CNR, Napoli Abstract. ...
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Mega- or meta-analytic studies (e.g. genome-wide association studies) are increasingly used in behavior genetics. An issue in such studies is that phenotypes are often measured by different instruments across study cohorts, requiring... more
Mega- or meta-analytic studies (e.g. genome-wide association studies) are increasingly used in behavior genetics. An issue in such studies is that phenotypes are often measured by different instruments across study cohorts, requiring harmonization of measures so that more powerful fixed effect meta-analyses can be employed. Within the Genetics of Personality Consortium, we demonstrate for two clinically relevant personality traits, Neuroticism and Extraversion, how Item-Response Theory (IRT) can be applied to map item data from different inventories to the same underlying constructs. Personality item data were analyzed in >160,000 individuals from 23 cohorts across Europe, USA and Australia in which Neuroticism and Extraversion were assessed by nine different personality inventories. Results showed that harmonization was very successful for most personality inventories and moderately successful for some. Neuroticism and Extraversion inventories were largely measurement invariant ...
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Research Interests: Engineering, Genetics, Physics, Chemistry, Polymorphism, and 16 moreBiology, Medicine, Multidisciplinary, Italy, Association study, Humans, Male, PLoS one, Middle Aged, Genotype, Single Nucleotide Polymorphism, Neoplasms, Prognosis, Causal Effect, Linkage Analysis, and Vascular Endothelial Growth Factor
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Research Interests: Nutrition, Obesity, Inflammation, Childhood Obesity, Adolescent, and 20 moreItaly, Humans, Child, Cholesterol, Female, Body Composition, Male, Body Mass Index, Risk factors, Triglycerides, Children and Adolescents, C reactive protein, Body mass index (BMI), Cardiovascular Diseases, Biological markers, Risk Factors, Cross Sectional Studies, Brain Natriuretic Peptide, Troponin T, and Vascular Endothelial Growth Factor
Research Interests: Bioinformatics, Genetics, Molecular Biology, Genomics, Computational Biology, and 17 moreCytokines, Cell Cycle, Drosophila melanogaster, Multidisciplinary, Nature, Hematopoiesis, Signal Transduction, RNA interference, Humans, Mice, Female, Animals, Male, Phenotype, Erythrocytes, Hemoglobins, and Gene Expression Regulation
Hearing is a complex trait, but until now only a few genes are known to contribute to variability of this process. In order to discover genes and pathways that underlie auditory function, a genome-wide association study was carried out... more
Hearing is a complex trait, but until now only a few genes are known to contribute to variability of this process. In order to discover genes and pathways that underlie auditory function, a genome-wide association study was carried out within the International Consortium G-EAR. Meta-analysis of genome-wide association study's data from six isolated populations of European ancestry for an overall number of 3417 individuals. Eight suggestive significant loci (p<10(-7)) were detected with a series of genes expressed within the inner ear such as: DCLK1, PTPRD, GRM8, CMIP. Additional biological candidates marked by a single nucleotide polymorphism (SNP) with a suggestive association (p<10(-6)) were identified, as well as loci encompassing 'gene desert regions'-genes of unknown function or genes whose function has not be linked to hearing so far. Some of these new loci map to already known hereditary hearing loss loci whose genes still need to be identified. Data have also been used to construct a highly significant…
Research Interests: Medical Genetics, Audiology, Genome Wide Association Studies (GWAS), Gene expression, Biological Sciences, and 20 moreHearing, Humans, Europe, Mice, Female, Animals, Metabotropic Glutamate Receptors, Male, Hearing Loss, Inner Ear, Phenotype, Genetic linkage analysis, Single Nucleotide Polymorphism, Hearing Impaired, European Continental Ancestry Group, Auditory Threshold, In Silico, Complex Traits, Founder Effect, and Medical
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The objective of this study was to estimate the prevalence of hearing impairment in four genetically isolated Italian villages (Carlantino, Campora, Gioi-Cardile, and Stoccareddo), 1682 subjects were recruited from all the individuals... more
The objective of this study was to estimate the prevalence of hearing impairment in four genetically isolated Italian villages (Carlantino, Campora, Gioi-Cardile, and Stoccareddo), 1682 subjects were recruited from all the individuals participating in a multidisciplinary study. They underwent otoscopy and pure-tone audiometry and completed a questionnaire. The audiological data show that the percentage of impaired people increases with age and in particular becomes relevant aged over 40. For this reason we decided to compare the PTA values of individuals aged 40 or older. The PTA values of Stoccareddo and Carlantino are statistically different from PTAs of the other villages. Campora and Gioi-Cardile, both located within the Cilento National Park, have similar middle-low frequency PTA values while some differences are present at high frequencies. Using pedigrees it was possible to calculate the heritability of the trait. For Carlantino and Gioi-Cardile the percentage of the phenotype variation attributable to genetic variation is not significant, while for Campora the heritability value is 0.49 (p = 0.01) suggesting that genetic factors may have an important role.