The CODATwins Project: The Current Status and Recent Findings of COllaborative Project of Development of Anthropometrical Measures in Twins.

The COllaborative project of Development of Anthropometrical measures in Twins (CODATwins) project is a large international collaborative effort to analyze individual-level phenotype data from twins in multiple cohorts from different environments. The main objective is to study factors that modify genetic and environmental variation of height, body mass index (BMI, kg/m2) and size at birth, and additionally to address other research questions such as long-term consequences of birth size. The project started in 2013 and is open to all twin projects in the world having height and weight measures on twins with information on zygosity.

Risk factors for subarachnoid haemorrhage: a nationwide cohort of 950 000 adults.

Background: Subarachnoid haemorrhage (SAH) is a devastating disease, with high mortality rate and substantial disability among survivors. Its causes are poorly understood. We aimed to investigate risk factors for SAH using a novel nationwide cohort consortium.

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Elevation of troponin reflects myocardial infarction. The underlying causes should be assessed, as treatment and prognosis may differ widely. Myocardial damage with non-obstructive coronary arteries requires further evaluation including magnetic resonance tomography.

Associations Between Attention-Deficit/Hyperactivity Disorder and Various Eating Disorders: A Swedish Nationwide Population Study Using Multiple Genetically Informative Approaches.

Background: Although attention-deficit/hyperactivity disorder (ADHD) and eating disorders (EDs) frequently co-occur, little is known about the shared etiology. In this study, we comprehensively investigated the genetic association between ADHD and various EDs, including anorexia nervosa (AN) and other EDs such as bulimia nervosa.

Methods: We applied different genetically informative designs to register-based information of a Swedish nationwide population (N = 3,550,118).

Pharmacogenomics of statin-related myopathy: Meta-analysis of rare variants from whole-exome sequencing.

Aims: Statin-related myopathy (SRM), which includes rhabdomyolysis, is an uncommon but important adverse drug reaction because the number of people prescribed statins world-wide is large. Previous association studies of common genetic variants have had limited success in identifying a genetic basis for this adverse drug reaction. We conducted a multi-site whole-exome sequencing study to investigate whether rare coding variants confer an increased risk of SRM.

Genome-wide analysis of dental caries and periodontitis combining clinical and self-reported data.

Dental caries and periodontitis account for a vast burden of morbidity and healthcare spending, yet their genetic basis remains largely uncharacterized. Here, we identify self-reported dental disease proxies which have similar underlying genetic contributions to clinical disease measures and then combine these in a genome-wide association study meta-analysis, identifying 47 novel and conditionally-independent risk loci for dental caries. We show that the heritability of dental caries is enriched for conserved genomic regions and partially overlapping with a range of complex traits including smoking, education, personality traits and metabolic measures.

Endothelial cell clonal expansion in the development of cerebral cavernous malformations.

Cerebral cavernous malformation (CCM) is a neurovascular familial or sporadic disease that is characterised by capillary-venous cavernomas, and is due to loss-of-function mutations to any one of three CCM genes. Familial CCM follows a two-hit mechanism similar to that of tumour suppressor genes, while in sporadic cavernomas only a small fraction of endothelial cells shows mutated CCM genes. We reported that in mouse models and in human patients, endothelial cells lining the lesions have different features from the surrounding endothelium, as they express mesenchymal/stem-cell markers.

[The wearable cardioverter defibrillator - temporary protection against sudden cardiac death].

Ventricular tachycardia or ventricular fibrillation can be terminated by defibrillation and implantable cardioverter defibrillators (ICDs) prevent sudden cardiac death. Since 2001 the wearable cardioverter defibrillator (WCD) has been available to provide temporary protection; it safely and effectively detects and terminates ventricular tachyarrhythmias. VEST (published in 2018) compared the effect of WCD in patients with ejection fraction ≤35 percent following myocardial infarction.

[Hemichorea/hemiballism a rare complication of hyperglycemia].

We present a case of hemichorea/hemiballism, a rare complication of hyperglycemia. Diagnosis is made clinically by signs of unilateral involuntary movements of the extremities combined with typical neuroradiological findings in the basal ganglia. Guidelines for treatment of the condition are lacking but in many cases correction for hyperglycemia is sufficient for full symptom relief.

[Syncope - contemporary management].

Syncope is the chief complaint in 1-2 percent of emergency department visits. Syncope belongs to the broader category transient loss of consciousness (TLOC), defined as a short loss of consciousness with loss of awareness and responsiveness, and with subsequent amnesia for the event. Syncope is defined as TLOC due to cerebral hypoperfusion, with rapid onset and spontaneous complete recovery.

Life-threatening peripartum cardiomyopathy-Not expected when expecting.

Peripartum cardiomyopathy is challenging to diagnose as it mimics symptoms present in normal pregnancy. The clinical course and prognosis are various. In selected cases, a cardioverter implantable defibrillator with/without cardiac resynchronization therapy, mechanical ventricular assist device treatment, and transplantation is indicated.

A catalog of genetic loci associated with kidney function from analyses of a million individuals.

Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through trans-ancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) and independent replication (n = 1,046,070), we identified 264 associated loci (166 new). Of these, 147 were likely to be relevant for kidney function on the basis of associations with the alternative kidney function marker blood urea nitrogen (n = 416,178).

The metabolites urobilin and sphingomyelin (30:1) are associated with incident heart failure in the general population.

Aims: We aimed to investigate whether metabolomic profiling of blood can lead to novel insights into heart failure pathogenesis or improved risk prediction.

Methods And Results: Mass spectrometry-based metabolomic profiling was performed in plasma or serum samples from three community-based cohorts without heart failure at baseline (total n = 3924; 341 incident heart failure events; median follow-up ranging from 4.6 to 13.

A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure.

Elevated blood pressure (BP), a leading cause of global morbidity and mortality, is influenced by both genetic and lifestyle factors. Cigarette smoking is one such lifestyle factor. Across five ancestries, we performed a genome-wide gene-smoking interaction study of mean arterial pressure (MAP) and pulse pressure (PP) in 129 913 individuals in stage 1 and follow-up analysis in 480 178 additional individuals in stage 2.

Family history of coronary artery disease is associated with acute coronary syndrome in 28,188 chest pain patients.

Background: The value of family history of coronary artery disease (CAD) in diagnosing acute coronary syndrome (ACS) in chest pain patients is uncertain, especially in relation to high-sensitivity assays for cardiac troponin T (hs-cTnT), which have improved ACS diagnostics. Our objective was to investigate the association between verified family history of CAD and ACS in chest pain patients, overall and in different strata of initial hs-cTnT.

Methods: Data on chest pain patients visiting four emergency departments in Sweden during 2013-2016 were cross-referenced with national registers of kinship, diseases and prescriptions.

Evidence of large genetic influences on dog ownership in the Swedish Twin Registry has implications for understanding domestication and health associations.

Dogs were the first domesticated animal and, according to the archaeological evidence, have had a close relationship with humans for at least 15,000 years. Today, dogs are common pets in our society and have been linked to increased well-being and improved health outcomes in their owners. A dog in the family during childhood is associated with ownership in adult life.

The frailty index is a predictor of cause-specific mortality independent of familial effects from midlife onwards: a large cohort study.

Background: Frailty index (FI) is a well-established predictor of all-cause mortality, but less is known for cause-specific mortality and whether familial effects influence the associations. Middle-aged individuals are also understudied for the association between FI and mortality. Furthermore, the population mortality impact of frailty remains understudied.

Prospective study of growth and bone mass in Swedish children treated with the modified Atkins diet.

Purpose: The modified Atkins diet (MAD) is a less restrictive treatment option than the ketogenic diet (KD) for intractable epilepsy and some metabolic conditions. Prolonged KD treatment may decrease bone mineralization and affect linear growth; however, long-term studies of MAD treatment are lacking. This study was designed to assess growth, body composition, and bone mass in children on MAD treatment for 24 months.

Apical hypertrophic cardiomyopathy with preexcitation presenting as a myocardial infarction and ischemic stroke with a history of recurrent syncope: A case report.

Contrast-enhanced echocardiography or cardiac magnetic resonance imaging is of value in the diagnosis of apical hypertrophic cardiomyopathy. Apical hypertrophic cardiomyopathy is rare in Caucasians, and gene negativity does not rule out the diagnosis. Risk stratification for sudden cardiac death and decisions about anticoagulation in cases with atrial fibrillation should be based on guidelines.

Parental Education and Genetics of BMI from Infancy to Old Age: A Pooled Analysis of 29 Twin Cohorts.

Objective: The objective of this study was to analyze how parental education modifies the genetic and environmental variances of BMI from infancy to old age in three geographic-cultural regions.

Methods: A pooled sample of 29 cohorts including 143,499 twin individuals with information on parental education and BMI from age 1 to 79 years (299,201 BMI measures) was analyzed by genetic twin modeling.

Results: Until 4 years of age, parental education was not consistently associated with BMI.

On the relationship between the heritability and the attributable fraction.

Heritability is the most commonly used measure of genetic contribution to disease outcomes. Being the fraction of the variance of latent trait liability attributable to genetic factors, heritability of binary traits is a difficult technical concept that is sometimes misinterpreted as the more-easily understandable concept of attributable fraction. In this paper we use the liability threshold model to describe the analytical relationship between heritability and attributable fraction.