Cholesterol not particle concentration mediates the atherogenic risk conferred by apolipoprotein B particles: a Mendelian randomization analysis.

Background And Aims: The causal contribution of apolipoprotein B (apoB) particles to coronary artery disease (CAD) is established. We examined whether this atherogenic contribution is better reflected by non-high-density lipoprotein cholesterol (non-HDL-C) or apoB particle concentration.

Method And Results: We performed Mendelian randomization (MR) analysis using 235 variants as genetic instruments; testing the relationship between their effects on the exposures, non-HDL-C and apoB, and on the outcome CAD using weighted regression.

Ethical Dilemmas in Physicians' Consultations with COPD Patients.

Aim: This phenomenological study was aimed at exploring principal physicians' (participants') experience of attending to COPD patients and motivating their self-management, in light of the GOLD clinical guidelines of COPD therapy.

Methods: Interviews were conducted with nine physicians, who had referred patients to PR, five general practitioners (GPs) and four lung specialists (LSs). The interviews were recorded, transcribed, and analyzed through a process of deconstruction and reconstruction.

The risk of respiratory tract infections and antibiotic use in a general population and among people with asthma.

Aim: The aim of this study was to investigate occupational, environmental, early life and other risk factors associated with respiratory infections and antibiotics use in a general population and among asthmatic individuals.

Method: This study included 15 842 participants of the Respiratory Health in Northern Europe (RHINE) study aged 25-54 years from five Nordic countries, who answered a questionnaire covering respiratory outcomes, exposures, demographic characteristics and numbers of infections and courses of antibiotics in the last 12 months. Multiple logistic regression with and without adjustment for age, sex, smoking status, body mass index and centre were used to study the risk of infection and antibiotics in relation to asthma, and also the association between infection and antibiotics and occupations.

Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland.

Objective: Familial hypercholesterolemia (FH) is traditionally defined as a monogenic disease characterized by severely elevated LDL-C (low-density lipoprotein cholesterol) levels. In practice, FH is commonly a clinical diagnosis without confirmation of a causative mutation. In this study, we sought to characterize and compare monogenic and clinically defined FH in a large sample of Icelanders.

Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits.

Long-read sequencing (LRS) promises to improve the characterization of structural variants (SVs). We generated LRS data from 3,622 Icelanders and identified a median of 22,636 SVs per individual (a median of 13,353 insertions and 9,474 deletions). We discovered a set of 133,886 reliably genotyped SV alleles and imputed them into 166,281 individuals to explore their effects on diseases and other traits.

PopDel identifies medium-size deletions simultaneously in tens of thousands of genomes.

Thousands of genomic structural variants (SVs) segregate in the human population and can impact phenotypic traits and diseases. Their identification in whole-genome sequence data of large cohorts is a major computational challenge. Most current approaches identify SVs in single genomes and afterwards merge the identified variants into a joint call set across many genomes.

Lifelong Reduction in LDL (Low-Density Lipoprotein) Cholesterol due to a Gain-of-Function Mutation in .

Background: Loss-of-function mutations in the LDL (low-density lipoprotein) receptor gene () cause elevated levels of LDL cholesterol and premature cardiovascular disease. To date, a gain-of-function mutation in with a large effect on LDL cholesterol levels has not been described. Here, we searched for sequence variants in that have a large effect on LDL cholesterol levels.

Frustrated Caring: Family Members' Experience of Motivating COPD Patients Towards Self-Management.

Aim: The aim of this phenomenological study was to explore principal family members' experience of motivating patients with chronic obstructive pulmonary disease (COPD) towards self-management.

Methods: Interviews were conducted with 10 family members (spouses and adult children) of COPD patients. The interviews were audio recorded, transcribed and analyzed thematically.

Genetic variability in the absorption of dietary sterols affects the risk of coronary artery disease.

Aims: To explore whether variability in dietary cholesterol and phytosterol absorption impacts the risk of coronary artery disease (CAD) using as instruments sequence variants in the ABCG5/8 genes, key regulators of intestinal absorption of dietary sterols.

Methods And Results: We examined the effects of ABCG5/8 variants on non-high-density lipoprotein (non-HDL) cholesterol (N up to 610 532) and phytosterol levels (N = 3039) and the risk of CAD in Iceland, Denmark, and the UK Biobank (105 490 cases and 844 025 controls). We used genetic scores for non-HDL cholesterol to determine whether ABCG5/8 variants confer greater risk of CAD than predicted by their effect on non-HDL cholesterol.

Association of Genetically Predicted Lipid Levels With the Extent of Coronary Atherosclerosis in Icelandic Adults.

Importance: Genetic studies have evaluated the influence of blood lipid levels on the risk of coronary artery disease (CAD), but less is known about how they are associated with the extent of coronary atherosclerosis.

Objective: To estimate the contributions of genetically predicted blood lipid levels on the extent of coronary atherosclerosis.

Design, Setting, And Participants: This genetic study included Icelandic adults who had undergone coronary angiography or assessment of coronary artery calcium using cardiac computed tomography.

COPD patients' experiences, self-reported needs, and needs-driven strategies to cope with self-management.

COPD is a common cause of morbidity and mortality. The aim of this study was to explore patients' experiences, self-reported needs, and needs-driven strategies to cope with self-management of COPD. In this phenomenological study, 10 participants with mild to severe COPD were interviewed 1-2 times, until data saturation was reached.

Variants in NKX2-5 and FLNC Cause Dilated Cardiomyopathy and Sudden Cardiac Death.

Background: Dilated cardiomyopathy (DCM) is an important cause of heart failure. Variants in >50 genes have been reported to cause DCM, but causative variants have been found in less than half of familial cases. Variants causing DCM in Iceland have not been reported before.

A rare splice donor mutation in the haptoglobin gene associates with blood lipid levels and coronary artery disease.

Common sequence variants at the haptoglobin gene (HP) have been associated with blood lipid levels. Through whole-genome sequencing of 8,453 Icelanders, we discovered a splice donor founder mutation in HP (NM_001126102.1:c.

Adult height associates with angiographic extent of coronary artery disease.

Background And Aims: Shorter stature is an established risk factor for coronary artery disease (CAD), but less is known about its association with extent of the disease.

Methods: We assessed the relationship between self-reported height and angiographic findings in 7706 men and 3572 women identified from a nationwide coronary angiography registry in Iceland.

Results: After adjustment for traditional cardiovascular risk factors, a standard deviation decrease in height associated with a greater likelihood of significant CAD (defined as ≥50% luminal diameter stenosis) both in men (adjusted odds ratio [OR]: 1.

Incidence of rhinitis and asthma related to welding in Northern Europe.

Welding-related asthma is well recognised but less is known about rhinitis in relation to welding. The aim here, was to study associations between welding, rhinitis and asthma in a general population sample, and factors influencing selection into and out of a welding occupation.Adult-onset asthma and non-infectious rhinitis were investigated in the international multicentre population-based Respiratory Health in Northern Europe (RHINE) study, including 16,191 responders aged 26-54 years.

Common sequence variants associated with coronary artery disease correlate with the extent of coronary atherosclerosis.

Objective: Single-nucleotide polymorphisms predisposing to coronary artery disease (CAD) have been shown to predict cardiovascular risk in healthy individuals when combined into a genetic risk score (GRS). We examined whether the cumulative burden of known genetic risk variants associated with risk of CAD influences the development and progression of coronary atherosclerosis.

Approach And Results: We investigated the combined effects of all known CAD variants in a cross-sectional study of 8622 Icelandic patients with angiographically significant CAD (≥ 50% diameter stenosis).

[Pulmonary alveolar proteinosis - a case report].

Pulmonary alveolar proteinosis (PAP) is a rare lung disease of unknown origin, where an amorphous lipoprotein material accumulates in the alveoli of the lungs. We describe a young male with a four month history of progressive dyspnea, low grade fever, hypoxemia and weight loss. Chest X-ray showed diffuse interstitial and alveolar infiltrates in both lungs.

Indoor environment in three North European cities in relationship to atopy and respiratory symptoms.

Background: In the European Community Respiratory Health Survey (ECRHS) I, the lowest prevalence of asthma and atopy was found in Reykjavík (Iceland) and Tartu (Estonia). The aim of this study was to compare home environments in Reykjavík and Tartu to a town with a higher prevalence of asthma and atopy (Uppsala, Sweden) in an attempt to identify factors in the indoor environment that could explain these differences.

Method: A random sample of 129 ECRHS II participants was included in this analysis at each of the three study centres.

[Yellow nail syndrome].

We describe a 77 year old man with a prior history of recurrent airway infections, who presented with a history of cough, dyspnea and increased mucous production that had lasted several months. On chest X-ray a pleural effusion was observed. Subsequent thoracocentesis demonstrated an exudate with predominant eosinophils.

Airway hyperresponsiveness, peak flow variability and inflammatory markers in non-asthmatic subjects with respiratory infections.

Objective: The aim of this study was to characterise non-asthmatic subjects with asthma-like symptoms during a common cold, particularly in relation to airway hyperresponsiveness (AHR).

Materials And Methods: Subjects with acute respiratory infections and a group of controls (n = 20 + 20), age 20-65 years, underwent bronchial provocations with methacholine, adenosine and cold air. All were non-smokers and had no history of asthma or heart disease.

Circulating adhesion molecules in allergic and non-allergic asthma.

Circulating forms of adhesion molecules (intercellular-adhesion molecule-1 (ICAM-1), vascular cell adhesion molecule-1 (VCAM-1) and E-selectin ) are related to the turnover of these molecules on the cell surface. In contrast to the other molecules, the levels of E-selectin probably exclusively reflect the activity of endothelial cells. The aim of this study was to compare levels of circulating adhesion molecules in patients with allergic (AA) and non-allergic asthma (NA) and to relate the levels of soluble adhesion molecules to methacholine responsiveness and lung function.

The influence of active and passive smoking on habitual snoring.

The impact of active smoking, passive smoking, and obesity on habitual snoring in the population is mainly unknown. We aimed to study the relationship of habitual snoring with active and passive tobacco smoking in a population-based sample. A total of 15,555 of 21,802 (71%) randomly selected men and women aged 25-54 years from Iceland, Estonia, Denmark, Norway, and Sweden answered a postal questionnaire.