Search results for "polygenic"
showing 10 items of 37 documents
Does a specific genetic background influence endurance or power-orientated phenotypes?
2012
The purpose of this study was to determine the probability of individuals having the “best” mitochondrial biogenesis related polygenic profile that could increase performance. We compared polygenic profile analyzing several polymorphisms on sixty professional italian soccer players, considered “power-oriented athletes” and thirty sedentary volunteers. Samples of venous blood were obtained by standard clinical procedures and anticoagulant-treated blood was used to prepare genomic DNA. The polymorphic sites were scanned using PCR-RFLP protocols with different enzyme. Furthermore, a cloted part of venus blood sample was used to obtain serum from which we analyzed total cholesterol, high densit…
Comparison of two polygenic risk score to identify non-monogenic primary hypocholesterolemias in a large cohort of Italian hypocholesterolemic subjec…
2022
Background: Primary Hypobetalipoproteinemias (HBL) are a group of dominant and recessive monogenic genetic disorders caused by mutations in APOB, PCSK9, ANGPTL3, MTTP, Sar1b genes and characterized by plasma levels of total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C) and apolipoprotein B (apoB) below the 5th percentile of the distribution in a given population. Mutations in the candidate genes account only for a small proportion of subjects with HBL suggesting a role for a polygenic contribution to the low cholesterol phenotype. Objective: To explore the complex genetic architecture of HBL we compared two polygenic risk scores in order to assess the role of the polygenic b…
T42. JUMPING TO CONCLUSIONS IS ASSOCIATED WITH THE POLYGENIC RISK SCORE FOR INTELLIGENCE BUT NOT FOR SCHIZOPHRENIA. PRELIMINARY FINDINGS FROM THE EU-…
2019
Background Psychotic patients tend to require less evidence to make decisions compared to general population. This bias named Jumping to Conclusions (JTC) has been found at First Episode Psychosis (FEP) in schizophrenia patients and associated with proneness to psychotic-like experiences in the general population. Interesting findings showed also strong association with lower cognitive functioning in psychotic patients, which in turn has been shown as a candidate intermediate phenotype for psychosis. Overall, findings to date could suggest a shared genetic liability between the occurrence of JTC and psychosis, potentially via IQ. The present study aims to investigate whether the presence of…
S126. THE RELATION OF THE PSYCHOSIS CONTINUUM WITH SCHIZOPHRENIA POLYGENIC RISK SCORE AND CANNABIS USE
2020
Abstract Background There has been much debate about whether research into psychosis should be conducted using symptom dimensions as opposed to diagnostic categories. Indeed, dimensions, like categories, may be practical but arbitrary tools for research and clinical practice; hence, they should not be based on psychometric data only. The aim of this study was to externally validate empirically derived symptom dimensions using combined genetic and environmental data. Specifically, we examined the hypothesis that the continuous multivariate distribution of psychosis is a function of cannabis use and genetic liability to schizophrenia, as summarised by polygenic risk score (SZ-PRS). Methods As…
Evidence, and replication thereof, that molecular-genetic and environmental risks for psychosis impact through an affective pathway
2022
AbstractBackgroundThere is evidence that environmental and genetic risk factors for schizophrenia spectrum disorders are transdiagnostic and mediated in part through a generic pathway of affective dysregulation.MethodsWe analysed to what degree the impact of schizophrenia polygenic risk (PRS-SZ) and childhood adversity (CA) on psychosis outcomes was contingent on co-presence of affective dysregulation, defined as significant depressive symptoms, in (i) NEMESIS-2 (n = 6646), a representative general population sample, interviewed four times over nine years and (ii) EUGEI (n = 4068) a sample of patients with schizophrenia spectrum disorder, the siblings of these patients and controls.ResultsT…
Synergistic effects of childhood adversity and polygenic risk in first-episode psychosis
2023
The European Network of National Schizophrenia Networks Studying Gene-Environment Interactions (EU-GEI) Project is funded by grant agreement HEALTH-F2-2010-241909 (Project EU-GEI) from the European Community’s Seventh Framework Programme.
Genetic and psychosocial stressors have independent effects on the level of subclinical psychosis: findings from the multinational EU-GEI study.
2022
the Spanish Ministry of Science and Innovation. Instituto de Salud Carlos III (SAM16PE07CP1, PI16/02012, PI19/024), co-financed by ERDF Funds from the European Commission, ‘A way of making Europe’, CIBERSAM. Madrid Regional Government (B2017/BMD-3740 AGES-CM-2), European Union Structural Funds. European Union Seventh Framework Program under grant agreements FP7-4-HEALTH-2009-2.2.1-2-241909 (Project EU-GEI) and FP7-HEALTH-2013-2.2.1-2-603196 (Project PSYSCAN); and European Union H2020 Program under the Innovative Medicines Initiative 2 Joint Undertaking (grant agreement No 115916, Project PRISM, and grant agreement No 777394, Project AIMS-2-TRIALS) (...)
Genetic variation in the primary sex ratio in populations of the intertidal copepod, Tigriopus californicus, is widespread on Vancouver Island.
2011
Hypothesis: Genetic variation for the primary sex ratio is widespread in a copepodwith polygenic sex determination. Cytoplasmic sex ratio distorters (e.g. Wolbachia andmicrosporidians) influence the primary sex ratio in this copepod. Organism: The intertidal copepod, Tigriopus californicus; six populations from VancouverIsland, British Columbia. Study site: Quantitative genetics experiment in the laboratory. PCR and antibioticsexperiment to test for the presence of cytoplasmic sex ratio distorters. Results: Genetic variation for the primary sex ratio was found in five of the six populationssurveyed. The primary sex ratio was paternally transmitted. There was no evidence thatWolbachia or mic…
Genetic basis of STEM occupational choice and regional economic performance : a UK biobank genome-wide association study
2023
Abstract Background Science, technology, engineering, and mathematics (STEM) professionals are regarded as the highly skilled labor force that fosters economic productivity, enterprise innovation, and international competitiveness of a country. This study aims to understand the genetic predisposition to STEM occupations and investigate its associations with regional economic performance. We conducted a genome-wide association study on the occupational choice of STEM jobs based on a sample of 178,976 participants from the UK Biobank database. Results We identified two genetic loci significantly associated with participants’ STEM job choices: rs10048736 on chromosome 2 and rs12903858 on chrom…
Use of multiple polygenic risk scores for distinguishing schizophrenia-spectrum disorder and affective psychosis categories in a first-episode sample…
2022
This work was supported by funding from the European Community’s Seventh Framework Programme under grant agreement No. HEALTH-F2-2010-241909 (Project EU-GEI). (...) CA was supported by the Spanish Ministry of Science and Innovation; Instituto de Salud Carlos III (SAM16PE07CP1, PI16/02012, PI19/024), co-financed by ERDF Funds from the European Commission, ‘A way of making Europe’, CIBERSAM. Madrid Regional Government (B2017/BMD-3740 AGES-CM-2), Fundación Familia Alonso and Fundación Alicia Koplowitz. MB was supported by the Ministry of Economy and Competitivity (PI08/0208; PI11/00325; PI14/00612), Instituto de Salud Carlos III – ERDF Funds from the European Commission, ‘A way of making Europ…