Search Results - "getta, Vincenzo"
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Individuals with common diseases but with a low polygenic risk score could be prioritized for rare variant screening
Published in Genetics in medicine (01-03-2021)“…Purpose Identifying rare genetic causes of common diseases can improve diagnostic and treatment strategies, but incurs high costs. We tested whether…”
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Childhood obesity and multiple sclerosis: A Mendelian randomization study
Published in Multiple sclerosis (01-12-2021)“…Background: Higher childhood body mass index (BMI) has been associated with an increased risk of multiple sclerosis (MS). Objective: To evaluate whether…”
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Genome-wide Association Study for Vitamin D Levels Reveals 69 Independent Loci
Published in American journal of human genetics (05-03-2020)“…We aimed to increase our understanding of the genetic determinants of vitamin D levels by undertaking a large-scale genome-wide association study (GWAS) of…”
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Clinically Relevant Circulating Protein Biomarkers for Type 1 Diabetes: Evidence From a Two-Sample Mendelian Randomization Study
Published in Diabetes care (01-01-2022)“…To identify circulating proteins influencing type 1 diabetes susceptibility using Mendelian randomization (MR). We used a large-scale two-sample MR study,…”
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Genetically decreased vitamin D and risk of Alzheimer disease
Published in Neurology (13-12-2016)“…OBJECTIVE:To test whether genetically decreased vitamin D levels are associated with Alzheimer disease (AD) using mendelian randomization (MR), a method that…”
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Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases
Published in Nature genetics (01-01-2023)“…Metabolic processes can influence disease risk and provide therapeutic targets. By conducting genome-wide association studies of 1,091 blood metabolites and…”
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A Neanderthal OAS1 isoform protects individuals of European ancestry against COVID-19 susceptibility and severity
Published in Nature medicine (01-04-2021)“…To identify circulating proteins influencing Coronavirus Disease 2019 (COVID-19) susceptibility and severity, we undertook a two-sample Mendelian randomization…”
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Circulating Proteins Influencing Psychiatric Disease: A Mendelian Randomization Study
Published in Biological psychiatry (1969) (01-01-2023)“…There is a pressing need for novel drug targets for psychiatric disorders. Circulating proteins are potential candidates because they are relatively easy to…”
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Polygenic risk score as a possible tool for identifying familial monogenic causes of complex diseases
Published in Genetics in medicine (01-07-2022)“…The study aimed to evaluate whether polygenic risk scores could be helpful in addition to family history for triaging individuals to undergo deep-depth…”
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The undiagnosed disease burden associated with alpha-1 antitrypsin deficiency genotypes
Published in The European respiratory journal (01-12-2020)“…Alpha-1 antitrypsin deficiency (AATD), mainly due to the PI*ZZ genotype in , is one of the most common inherited diseases. Since it is associated with a high…”
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Circulating Metabolite Abundances Associated With Risks of Bipolar Disorder, Schizophrenia, and Depression: A Mendelian Randomization Study
Published in Biological psychiatry (1969) (15-11-2024)“…Preventive measures and treatments for psychiatric disorders are limited. Circulating metabolites are potential candidates for biomarker and therapeutic target…”
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An atlas of genetic influences on human blood metabolites
Published in Nature genetics (01-06-2014)“…Nicole Soranzo, Tim Spector, Gabi Kastenmüller and colleagues report a large-scale analysis of genetic variants influencing human blood metabolite levels. They…”
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Vitamin D and Risk of Multiple Sclerosis: A Mendelian Randomization Study
Published in PLoS medicine (01-08-2015)“…Observational studies have demonstrated an association between decreased vitamin D level and risk of multiple sclerosis (MS); however, it remains unclear…”
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Rare Genetic Variants of Large Effect Influence Risk of Type 1 Diabetes
Published in Diabetes (New York, N.Y.) (01-04-2020)“…Most replicated genetic determinants for type 1 diabetes are common (minor allele frequency [MAF] >5%). We aimed to identify novel rare or low-frequency (MAF…”
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Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis
Published in Nature genetics (01-10-2017)“…David Evans, Brent Richards and colleagues carried out a genome-wide association study in 142,487 individuals from the UK Biobank and identified 153 new loci…”
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Vitamin D and COVID-19 susceptibility and severity in the COVID-19 Host Genetics Initiative: A Mendelian randomization study
Published in PLoS medicine (01-06-2021)“…Increased vitamin D levels, as reflected by 25-hydroxy vitamin D (25OHD) measurements, have been proposed to protect against COVID-19 based on in vitro,…”
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Mendelian randomisation applied to drug development in cardiovascular disease: a review
Published in Journal of medical genetics (01-02-2015)“…Despite increased expenditure, productivity of the pharmaceutical industry has decreased and currently 90% of developed molecules entering phase II and phase…”
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Genetic determinants of polygenic prediction accuracy within a population
Published in Genetics (Austin) (30-11-2022)“…Abstract Genomic risk prediction is on the emerging path toward personalized medicine. However, the accuracy of polygenic prediction varies strongly in…”
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Identifying Rare Genetic Determinants for Improved Polygenic Risk Prediction of Bone Mineral Density and Fracture Risk
Published in Journal of bone and mineral research (01-12-2023)“…ABSTRACT Osteoporosis and fractures severely impact the elderly population. Polygenic risk scores for bone mineral density have demonstrated potential clinical…”
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Genetic susceptibility and late bone outcomes in childhood acute lymphoblastic leukemia survivors
Published in Journal of bone and mineral research (22-03-2024)“…Childhood acute lymphoblastic leukemia (cALL) survivors are at increased risk for bone comorbidities, but accurate screening tools for such comorbidities are…”
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