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Genetic variants at the RTP4/MASP1 locus are associated with fatigue in Scandinavian patients with primary Sjögren’s syndrome
(Journal article; Peer reviewed, 2021)Objectives Fatigue is common and severe in primary Sjögren’s syndrome (pSS). The aim of this study was to identify genetic determinants of fatigue in pSS through a genome-wide association study. Methods Patients with ... -
Genetic variation in 117 myelination-related genes in schizophrenia: Replication of association to lipid biosynthesis genes
(Peer reviewed; Journal article, 2018-05-02)Schizophrenia is a serious psychotic disorder with high heritability. Several common genetic variants, rare copy number variants and ultra-rare gene-disrupting mutations have been linked to disease susceptibility, but there ... -
Genetic variation in metronidazole metabolism and oxidative stress pathways in clinical giardia lamblia assemblage A and B isolates
(Peer reviewed; Journal article, 2019-05-10)Purpose: Treatment-refractory Giardia cases have increased rapidly within the last decade. No markers of resistance nor a standardized susceptibility test have been established yet, but several enzymes and their pathways ... -
Genetics and pathophysiology of haemophagocytic lymphohistiocytosis
(Journal article; Peer reviewed, 2021)Haemophagocytic lymphohistiocytosis (HLH) represents a life-threatening hyperinflammatory syndrome. Familial studies have established autosomal and X-linked recessive causes of HLH, highlighting a pivotal role for lymphocyte ... -
Genetics of diabetes-associated microvascular complications
(Journal article; Peer reviewed, 2023)Diabetes is associated with excess morbidity and mortality due to both micro- and macrovascular complications, as well as a range of non-classical comorbidities. Diabetes-associated microvascular complications are those ... -
Genetics of Sputum Gene Expression in Chronic Obstructive Pulmonary Disease
(Peer reviewed; Journal article, 2011-09-16)Previous expression quantitative trait loci (eQTL) studies have performed genetic association studies for gene expression, but most of these studies examined lymphoblastoid cell lines from non-diseased individuals. We ... -
Genetics of vestibular schwannoma : Genetic landscape of irradiated and radiation-naïve benign and malignant vestibular schwannoma
(Doctoral thesis, 2022-05-06)Background: Vestibular schwannoma (VS) is a benign intracranial neoplasm associated with reduced quality of life. Malignant peripheral nerve sheath tumor of the vestibular nerve (VN-MPNST) is the malignant counterpart, an ... -
Genome wide response to dietary tetradecylthioacetic acid supplementation in the heart of Atlantic Salmon (Salmo salar L.)
(Peer reviewed; Journal article, 2012-05-11)Background: Under-dimensioned hearts causing functional problems are associated with higher mortality rates in intensive Atlantic salmon aquaculture. Previous studies have indicated that tetradecylthioacetic acid (TTA) ... -
Genome-wide analyses reveal novel opioid use disorder loci and genetic overlap with schizophrenia, bipolar disorder, and major depression
(Journal article; Peer reviewed, 2023)Opioid use disorder (OUD) and mental disorders are often comorbid, with increased morbidity and mortality. The causes underlying this relationship are poorly understood. Although these conditions are highly heritable, their ... -
Genome-wide analysis of anorexia nervosa and major psychiatric disorders and related traits reveals genetic overlap and identifies novel risk loci for anorexia nervosa
(Journal article; Peer reviewed, 2023)Anorexia nervosa (AN) is a heritable eating disorder (50–60%) with an array of commonly comorbid psychiatric disorders and related traits. Although significant genetic correlations between AN and psychiatric disorders and ... -
Genome-wide analysis reveals extensive genetic overlap between schizophrenia, bipolar disorder, and intelligence
(Peer reviewed; Journal article, 2019)Schizophrenia (SCZ) and bipolar disorder (BD) are severe mental disorders associated with cognitive impairment, which is considered a major determinant of functional outcome. Despite this, the etiology of the cognitive ... -
Genome-wide analysis reveals genetic overlap between alcohol use behaviours, schizophrenia and bipolar disorder and identifies novel shared risk loci
(Journal article; Peer reviewed, 2022)Background and aim Schizophrenia (SCZ) and bipolar disorder (BD) have a high comorbidity of alcohol use disorder (AUD), and both comorbid AUD and excessive alcohol consumption (AC) have been linked to greater illness ... -
Genome-wide Association Analysis of Parkinson’s Disease and Schizophrenia Reveals Shared Genetic Architecture and Identifies Novel Risk Loci
(Journal article; Peer reviewed, 2021)Background Parkinson’s disease (PD) and schizophrenia (SCZ) are heritable brain disorders that involve dysregulation of the dopaminergic system. Epidemiological studies have reported potential comorbidity between the ... -
Genome-wide association meta-analysis of childhood and adolescent internalizing symptoms
(Journal article; Peer reviewed, 2022)Objective: To investigate the genetic architecture of internalizing symptoms in childhood and adolescence. Method: In 22 cohorts, multiple univariate genome-wide association studies (GWASs) were performed using repeated ... -
Genome-wide association study identifies 30 loci associated with bipolar disorder
(Journal article; Peer reviewed, 2019)Bipolar disorder is a highly heritable psychiatric disorder. We performed a genome-wide association study (GWAS) including 20,352 cases and 31,358 controls of European descent, with follow-up analysis of 822 variants with ... -
A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry
(Peer reviewed; Journal article, 2015-12-03)Background Pulmonary function decline is a major contributor to morbidity and mortality among smokers. Post bronchodilator FEV1 and FEV1/FVC ratio are considered the standard assessment of airflow obstruction. We performed ... -
Genome-wide association study identifies Sjögren’s risk loci with functional implications in immune and glandular cells
(Journal article; Peer reviewed, 2022)Sjögren’s disease is a complex autoimmune disease with twelve established susceptibility loci. This genome-wide association study (GWAS) identifies ten novel genome-wide significant (GWS) regions in Sjögren’s cases of ... -
A genome-wide association study in chronic obstructive pulmonary disease (COPD): Identification of two major susceptibility loci
(Peer reviewed; Journal article, 2009-03-20)There is considerable variability in the susceptibility of smokers to develop chronic obstructive pulmonary disease (COPD). The only known genetic risk factor is severe deficiency of α1-antitrypsin, which is present in ... -
Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia
(Peer reviewed; Journal article, 2017-06-20)Borderline personality disorder (BOR) is determined by environmental and genetic factors, and characterized by affective instability and impulsivity, diagnostic symptoms also observed in manic phases of bipolar disorder ... -
A genome-wide association study of bronchodilator response in participants of European and African ancestry from six independent cohorts
(Journal article; Peer reviewed, 2022)Introduction Bronchodilator response (BDR) is a measurement of acute bronchodilation in response to short-acting β2-agonists, with a heritability between 10 and 40%. Identifying genetic variants associated with BDR may ...