Giorgia Girotto
A5030306152- Hearing, Cochlea, Tinnitus, Genetics
- Genetic Associations and Epidemiology
- Metabolomics and Mass Spectrometry Studies
- Biochemical Analysis and Sensing Techniques
- Connexins and lens biology
- Hearing Loss and Rehabilitation
- Birth, Development, and Health
- Genetics and Neurodevelopmental Disorders
- Olfactory and Sensory Function Studies
- Vestibular and auditory disorders
- Cardiomyopathy and Myosin Studies
- Ear Surgery and Otitis Media
- Nutrition, Genetics, and Disease
- RNA Research and Splicing
- RNA regulation and disease
- Cardiac electrophysiology and arrhythmias
- Genetic Mapping and Diversity in Plants and Animals
- Advanced Chemical Sensor Technologies
- Cancer-related molecular mechanisms research
- Liver Disease Diagnosis and Treatment
- Genomics and Rare Diseases
- Epigenetics and DNA Methylation
- Genetic and phenotypic traits in livestock
- Noise Effects and Management
- Cell Adhesion Molecules Research
University of Trieste
2016-2025
IRCCS Materno Infantile Burlo Garofolo
2014-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2013-2025
University of Cambridge
2024
Leiden University Medical Center
2019
Universidade Federal de Minas Gerais
2019
Queen Mary University of London
2019
Sidra Medical and Research Center
2016-2017
British Heart Foundation
2015
Institute of Cancer Research
2015
Abstract We conduct a genome-wide association study (GWAS) of educational attainment (EA) in sample ~3 million individuals and identify 3,952 approximately uncorrelated genome-wide-significant single-nucleotide polymorphisms (SNPs). A polygenic predictor, or index (PGI), explains 12–16% EA variance contributes to risk prediction for ten diseases. Direct effects (i.e., controlling parental PGIs) explain roughly half the PGI’s magnitude with other phenotypes. The correlation between mate-pair...
Abstract Hypertension affects more than one billion people worldwide. Here we identify 113 novel loci, reporting a total of 2,103 independent genetic signals ( P < 5 × 10 −8 ) from the largest single-stage blood pressure (BP) genome-wide association study to date n = 1,028,980 European individuals). These associations explain 60% single nucleotide polymorphism-based BP heritability. Comparing top versus bottom deciles polygenic risk scores (PRSs) reveals clinically meaningful differences...
Educational attainment is associated with many health outcomes, including longevity. It also known to be substantially heritable. Here, we used data from three large genetic epidemiology cohort studies (Generation Scotland, n = ∼17,000; UK Biobank, ∼115,000; and the Estonian ∼6,000) test whether education-linked variants can predict lifespan length. We did so by using members' polygenic profile score for education their parents' Across cohorts, meta-analysis showed that a 1 SD higher was...
Diverse genetic backgrounds often lead to phenotypic heterogeneity in cardiomyopathies (CMPs). Previous genotype-phenotype studies have primarily focused on the analysis of a single phenotype, and diagnostic prognostic features CMP genotype across different expressions remain poorly understood.We sought define differences outcome prediction when stratifying patients based phenotype at presentation compared with large cohort CMPs positive testing.Dilated cardiomyopathy (DCM), arrhythmogenic...
Abstract Pubertal timing varies considerably and is associated with later health outcomes. We performed multi-ancestry genetic analyses on ~800,000 women, identifying 1,080 signals for age at menarche. Collectively, these explained 11% of trait variance in an independent sample. Women the top bottom 1% polygenic risk exhibited ~11 ~14-fold higher risks delayed precocious puberty, respectively. identified several genes harboring rare loss-of-function variants ~200,000 including ZNF483 , which...
A GWAS including 192,986 European and 1636 Asian participants identifies 50 novel discrete associations with eye color.
A significant number of individuals with a rare disorder such as Usher syndrome (USH) and (non-)syndromic autosomal recessive retinitis pigmentosa (arRP) remain genetically unexplained. Therefore, we assessed subjects suspected
Since estrogen is thought to protect pre-menopausal women from age-related hearing loss, we investigated whether variation in estrogen-signalling genes linked status the 1958 British Birth Cohort. This analysis implicated estrogen-related receptor gamma (ESRRG) gene determining adult function and was further a total of 6134 individuals 3 independent cohorts: (i) Cohort; (ii) London ARHL case-control cohort; (iii) cohort isolated populations Italy Silk Road countries. Evidence an association...
Nonsyndromic Hereditary Hearing Loss is a common disorder accounting for at least 60% of prelingual deafness. GJB2 gene mutations, GJB6 deletion, and the A1555G mitochondrial mutation play major role worldwide in causing deafness, but there high degree genetic heterogeneity many genes involved deafness have not yet been identified. Therefore, remains need to search new causative mutations. In this study, combined strategy using both linkage analysis sequencing identified hearing loss....
Mutations in GJB2, the gene that encodes connexin 26 (Cx26), are most common cause of sensorineural hearing impairment. The truncating variant 35delG, which determines a complete loss Cx26 protein function, is prevalent GJB2 mutation several populations. Here, we generated and analyzed Gjb2
Cardiovascular risk factors have been implicated in the etiology of cerebral small vessel disease (CSVD); however, whether associations are causal remains unclear part due to susceptibility observational studies reverse causation and confounding. Here, we use mendelian randomization (MR) determine which cardiovascular likely be involved CSVD.We used data from large-scale genome-wide association European ancestry identify genetic proxies for blood pressure, lipids, body mass index (BMI), type...