Search results for "Multifactorial Inheritance"
showing 6 items of 26 documents
The Relationship Between Polygenic Risk Scores and Cognition in Schizophrenia
2020
Abstract Background Cognitive impairment is a clinically important feature of schizophrenia. Polygenic risk score (PRS) methods have demonstrated genetic overlap between schizophrenia, bipolar disorder (BD), major depressive disorder (MDD), educational attainment (EA), and IQ, but very few studies have examined associations between these PRS and cognitive phenotypes within schizophrenia cases. Methods We combined genetic and cognitive data in 3034 schizophrenia cases from 11 samples using the general intelligence factor g as the primary measure of cognition. We used linear regression to examine the association between cognition and PRS for EA, IQ, schizophrenia, BD, and MDD. The results wer…
The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management.
2014
Item does not contain fulltext Plasma triglyceride concentration is a biomarker for circulating triglyceride-rich lipoproteins and their metabolic remnants. Common mild-to-moderate hypertriglyceridaemia is typically multigenic, and results from the cumulative burden of common and rare variants in more than 30 genes, as quantified by genetic risk scores. Rare autosomal recessive monogenic hypertriglyceridaemia can result from large-effect mutations in six different genes. Hypertriglyceridaemia is exacerbated by non-genetic factors. On the basis of recent genetic data, we redefine the disorder into two states: severe (triglyceride concentration >10 mmol/L), which is more likely to have a mono…
Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes.
2019
International audience; Epidemiologic studies show an increased risk of non-Hodgkin lymphoma (NHL) in patients with autoimmune disease (AD), due to a combination of shared environmental factors and/or genetic factors, or a causative cascade: chronic inflammation/antigen-stimulation in one disease leads to another. Here we assess shared genetic risk in genome-wide-association-studies (GWAS). Secondary analysis of GWAS of NHL subtypes (chronic lymphocytic leukemia, diffuse large B-cell lymphoma, follicular lymphoma, and marginal zone lymphoma) and ADs (rheumatoid arthritis, systemic lupus erythematosus, and multiple sclerosis). Shared genetic risk was assessed by (a) description of regional g…
Febrile seizure and related syndromes
2018
Abstract Febrile seizures (FS) are the result of particular sensitivity to fever in the developing brain, have a major genetic predisposition, and nearly always have a benign outcome. Febrile seizures are the most common for of seizures in childhood. They have been observed in 2–6% of children before the age of 5 years, but in some populations this figure increase to 15%. Febrile seizures could be the first manifestations of epilepsy. About 13% of epileptic patients have a history of febrile seizures, and 30% have had recurrent febrile seizures Their phenotypic characteristics allow, in the majority of cases, a classification of the seizure, an elaboration of a prognosis and to assume a spe…
On the genetics of psoriasis
1973
To elucidate the mode of inheritance in psoriasis, Falconer's model for estimating heritability which is under the assumption of multifactorial inheritance, was applied to the data of Hellgren (1967) from Sweden. The heritability estimates were based on both manifest and potential psoriasis since a clear separation of these two categories was impossible. These estimates were 64% for parents, 60% for siblings and 52% for all first degree relatives which included the children of psoriatic cases. For second degree relatives it was 48%. None of these differences are statistically significant. The results are discussed.
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…