Valeria Lo Faro
A5045952217- Genetic Associations and Epidemiology
- Glaucoma and retinal disorders
- Retinal Diseases and Treatments
- Blood Coagulation and Thrombosis Mechanisms
- Genomics and Rare Diseases
- Venous Thromboembolism Diagnosis and Management
- Retinal Imaging and Analysis
- Genomic variations and chromosomal abnormalities
- Ocular and Laser Science Research
- Advanced Proteomics Techniques and Applications
- Glycosylation and Glycoproteins Research
- Epigenetics and DNA Methylation
- Machine Learning in Bioinformatics
- Retinal Development and Disorders
- Corneal surgery and disorders
- Cancer Genomics and Diagnostics
- Reproductive Health and Contraception
- Bioinformatics and Genomic Networks
- Connexins and lens biology
- Pulmonary Hypertension Research and Treatments
- Autism Spectrum Disorder Research
- Renal and related cancers
- Connective tissue disorders research
- Cardiovascular Issues in Pregnancy
- Corneal Surgery and Treatments
Science for Life Laboratory
2021-2024
Uppsala University
2021-2024
University Medical Center Groningen
2018-2024
University of Groningen
2019-2024
Amsterdam University Medical Centers
2021-2024
University of Amsterdam
2020
Amsterdam UMC Location University of Amsterdam
2018
University of Catania
2017
Polygenic risk scores (PRSs) have been widely explored in precision medicine. However, few studies thoroughly investigated their best practices global populations across different diseases. We here utilized data from Global Biobank Meta-analysis Initiative (GBMI) to explore methodological considerations and PRS performance 9 biobanks for 14 disease endpoints. Specifically, we constructed PRSs using pruning thresholding (P + T) PRS-continuous shrinkage (CS). For both methods, a European-based...
Summary Biobanks are being established across the world to understand genetic, environmental, and epidemiological basis of human diseases with goal better prevention treatments. Genome-wide association studies (GWAS) have been very successful at mapping genomic loci for a wide range traits, but in general, lack appropriate representation diverse ancestries - most biobanks preceding GWAS composed individuals European ancestries. Here, we introduce Global Biobank Meta-analysis Initiative...
More than 150 million women worldwide use oral contraceptives. Women with inherited thrombophilia and carriers of certain gene variants, such as factor V Leiden the prothrombin, are at an increased risk for venous thromboembolism, especially when combined contraceptive use. Venous thromboembolism is a complex disorder involving many genetic factors, recently, polygenic scores have been proposed to capture significant proportion thromboembolism.
Abstract Despite the success of genome-wide association studies, much genetic contribution to complex traits remains unexplained. Here, we analyse high coverage whole-genome sequencing data, evaluate rare variants 414 plasma proteins. The frequency distribution is skewed towards spectrum, and damaging are more often rare. We estimate that less than 4.3% narrow-sense heritability expected be explained by in our cohort. Using a gene-based approach, identify Cis -associations for 237 proteins,...
Large sex hormonal fluctuations are thought to influence vaginal microbiota, but little is known about the impact of small, physiological variations. Here we tracked changes in microbiota during four key menstrual cycle phases 61 healthy Italian women from Women4Health cohort. The was primarily composed Lactobacillus, with L. iners being most abundant. Noteworthy, high abundance contrasts previous studies European populations, challenging its proposed pathogenic role, and suggesting distinct...
Deletion of 18q12.2 is an increasingly recognized condition with a distinct neuropsychiatric phenotype. Twenty‐two patients have been described overlapping neurobehavioral disturbances including developmental delay, intellectual disability variable degree, seizures, motor coordination disorder, behavioral/emotional disturbances, and autism spectrum disorders. The CUGBP Elav‐like family member 4 ( CELF4) gene at encodes RNA‐binding protein that links to RNA subsets involved in pre‐...
Background and purpose: Primary open-angle glaucoma (POAG) is an optic neuropathy characterized by death of retinal ganglion cells atrophy the nerve head. The susceptibility to damage has been shown be mediated mitochondrial dysfunction. In this study, we aimed determine a possible association between SNPs or haplogroups POAG. Methods: Mitochondrial DNA single nucleotide polymorphisms (mtSNPs) were genotyped using Illumina Infinium Global Screening Array-24 (GSA) 700K array set. Genetic...
IntroductionDeep vein thrombosis (DVT) is a complex disease, where 60 % of risk due to genetic factors, such as the Factor V Leiden (FVL) variant. DVT either asymptomatic or manifests with unspecific symptoms and, if left untreated, leads severe complications. The impact dramatic and currently, there still research gap in prevention. We characterized contribution stratified individuals based on makeup evaluate it favorably impacts prediction.MethodsIn UK Biobank (UKB), we performed...
Primary open-angle glaucoma (POAG) has been reported to occur more frequently in Africans, and follow a severe course compared Europeans. We aimed describe characteristics of POAG presentation treatment across three ethnic groups from Africa one Europe.We ascertained 151 patients South African Coloured (SAC) 94 Black (SAB) ethnicity university hospital Africa. In Tanzania, 310 were recruited referral hospital. the Netherlands, 241 European ancestry included. All over 35 years old had...
Summary With the increasing availability of biobank-scale datasets that incorporate both genomic data and electronic health records, many associations between genetic variants phenotypes interest have been discovered. Polygenic risk scores (PRS), which are being widely explored in precision medicine, use results association studies to predict component disease by accumulating alleles weighted their effect sizes. However, few thoroughly investigated best practices for PRS global populations...
Abstract Primary open-angle glaucoma (POAG) is a leading cause of irreversible blindness globally. There disparity in POAG prevalence and manifestations across ancestries. We identify novel unique genetics that underlie risk different ancestries by performing meta-analysis 15 biobanks (of the Global Biobank Meta-analysis Initiative) with previously multi-ancestry studies. 18 significant loci, three which were ancestry-specific, five sex-specific identified. performed gene-enrichment...
Abstract Background To investigate whether copy number variations (CNVs) are implicated in molecular mechanisms underlying primary open-angle glaucoma (POAG), we used genotype data of POAG individuals and healthy controls from two case-control studies, AGS ( n = 278) GLGS-UGLI 1292). PennCNV, QuantiSNP, cnvPartition programs were to detect CNV. Stringent quality at both sample marker levels applied. The identified CNVs intersected CNV region (CNVR). After, performed burden analysis,...
SUMMARY Genome wide association study (GWAS) results for Venous Thromboembolism (VTE) across 9 international cohorts of the Global Biobank Meta-analysis Initiative (GBMI), with representation six ancestry groups (cases=27,987, controls=1,035,290), were combined using inverse-variance weighted meta-analysis. This multi-ancestry GWAS resulted in 38 genome-wide significant loci, which are potentially novel. For each autosomal locus we performed gene prioritization seven independent, yet...
Venous thromboembolism (VTE) is a significant contributor to morbidity and mortality, with large disparities in incidence rates between Black White Americans. Polygenic risk scores (PRSs) limited variants discovered genome-wide association studies European-ancestry samples can identify individuals at high of VTE. However, there evidence on whether high-dimensional PRS constructed using more sophisticated methods diverse training data enhance the predictive ability their utility across...
Abstract Venous thromboembolism (VTE) is a significant contributor to morbidity and mortality, with large disparities in incidence rates between Black White Americans. Polygenic risk scores (PRSs) limited variants discovered genome-wide association studies European-ancestry samples can identify individuals at high of VTE. However, there evidence on whether high-dimensional PRS constructed using more sophisticated methods diverse training data enhance the predictive ability their utility...
Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder that affects the anterior segment of eye. The aim this study was to examine PITX2 gene identify possible novel mutations in Pakistani and Mexican families affected by ARS phenotype.Three unrelated probands with diagnosis were recruited for study. Genomic DNA isolated from peripheral blood their family members. Polymerase chain reaction Sanger sequencing used analysis coding exons flanking intronic regions gene....
Eyemate® is a system for the continual monitoring of intraocular pressure (IOP), composed an sensor, and hand-held reader device. As eyemate®-IO sensor communicates with telemetrically, some patients might fear that electronic devices they use on daily basis somehow interfere this communication, leading to unreliable measurements IOP. In study, we investigated effect electromagnetic radiation produced by number everyday made in-vitro, in artificial controlled environment.The was suspended...
Abstract Structural variations, including copy number variations (CNVs), affect around 20 million bases in the human genome and are common causes of rare conditions. CNVs rarely investigated complex disease research because most not targeted on genotyping arrays or reference panels for genetic imputation. In this study, we characterize a Swedish cohort (N = 1,021) using short-read whole-genome sequencing (WGS) use long-read WGS validation subcohort 15), explore their effect 438 plasma...
ABSTRACT Background Deep Vein Thrombosis (DVT) is a common disease that can lead to serious complications such as pulmonary embolism and in-hospital mortality. More than 60% of DVT risk influenced by genetic factors, Factor V Leiden (FVL) prothrombin G20210A mutations (PTM). Characterising the contribution stratifying participants based on their makeup favourably impact prediction. Therefore, we aimed develop evaluate genetic-based prediction model for polygenic score (PRS) in UK Biobank...