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Genome-wide association analyses of autoimmune hypothyroidism reveal autoimmune and thyroid-specific contributions and an inverse relationship with cancer risk

The high prevalence (>5%) of autoimmune hypothyroidism (AIHT) provides a unique opportunity to dissect genetic contributions to systemic and organ-specific autoimmunity. Here we performed a genome-wide association meta-analysis of 81,718 AIHT cases in FinnGen and the UK Biobank, identifying 418 independent signals (P < 5 × 10−8). At 48 of these loci, a protein-coding variant is, or is highly corre

Differential splice isoforms of mouse CDK2 play functionally redundant roles during mitotic and meiotic division

In most mammals, the cell cycle kinase; cyclin-dependent kinase 2 (CDK2) is expressed as two major isoforms due to alternative splicing. The shorter CDK2 isoform: CDK2S, is expressed constitutively during the cell cycle and can be detected in several tissues. In contrast, the longer isoform: CDK2L, shows preferential expression in meiotically dividing cells and upon S-phase entry in the mitotic cy

Metabolic Health and Heterogenous Outcomes of Prenatal Interventions : A Secondary Analysis of a Randomized Clinical Trial

Importance: Prenatal intensive behavioral therapy (IBT) interventions that promote adequate gestational weight gain (GWG) have had variable and mostly modest effects on clinically relevant maternal and infant outcomes. It is unknown whether different maternal obesity metabolic phenotypes underlie the heterogeneity in response. Objective: To examine GWG, adverse perinatal outcomes, substrate change

Induction of murine experimental autoimmune myocarditis – technical details, implementation and evaluation

Introduction: Myocarditis is a complex cardiac disorder with multifactorial etiology, characterized by myocardial inflammation, cardiomyocyte damage, and fibrosis. Left untreated, myocarditis may lead to acute and chronic heart failure and life-threatening arrhythmias. Reliable experimental models of myocarditis are required to study the underlying pathological mechanisms of the disease and to dev

Rapporten om RALS-enkät 2024 final

Rapporten om RALS-enkät 2024 final Medlemmarnas inställning till lönesättande samtal vid Lunds universitet Rapportförfattare Adam Brenthel (PhD), ordf. Saco-S-rådets styrelse vid Lunds universitet. Statistiken och figurerna har gjorts av Roger Senden. Marie Hoen, vice ordförande tillika RALS-ansvarig har bistått författaren. SAMMANFATTNING AV RESULTATEN ............................................

https://www.saco.se/globalassets/lokala-akademikerforeningar/statlig/lunds-universitet/dokument/rapporten-om-rals-enkat-2024.pdf - 2026-05-31

Altered Desaturation and Elongation of Fatty Acids in Hormone-Sensitive Lipase Null Mice

Background: Hormone-sensitive lipase (HSL) is expressed predominantly in adipose tissue, where it plays an important role in catecholamine-stimulated hydrolysis of stored lipids, thus mobilizing fatty acids. HSL exhibits broad substrate specificity and besides acylglycerides it hydrolyzes cholesteryl esters, retinyl esters and lipoidal esters. Despite its role in fatty acid mobilization, HSL null

The Effect of ACACB cis-Variants on Gene Expression and Metabolic Traits

Background: Acetyl Coenzyme A carboxylase beta (ACACB) is the rate-limiting enzyme in fatty acid oxidation, and continuous fatty acid oxidation in Acacb knock-out mice increases insulin sensitivity. Systematic human studies have not been performed to evaluate whether ACACB variants regulate gene expression and insulin sensitivity in skeletal muscle and adipose tissues. We sought to determine wheth

Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility.

Fasting glucose and insulin are intermediate traits for type 2 diabetes. Here we explore the role of coding variation on these traits by analysis of variants on the HumanExome BeadChip in 60,564 non-diabetic individuals and in 16,491 T2D cases and 81,877 controls. We identify a novel association of a low-frequency nonsynonymous SNV in GLP1R (A316T; rs10305492; MAF=1.4%) with lower FG (β=-0.09±0.01

Healthy Lifestyle and Leukocyte Telomere Length in US Women

Context: Whether a healthy lifestyle may be associated with longer telomere length is largely unknown. Objectives: To examine healthy lifestyle practices, which are primary prevention measures against major age-related chronic diseases, in relation to leukocyte telomere length. Design and Setting: Cross-sectional analysis in the Nurses' Health Study (NHS). Participants: The population consisted of

Clinical and Genetic Determinants of Progression of Type 2 Diabetes: A DIRECT Study

OBJECTIVETo identify the clinical and genetic factors that explain why the rate of diabetes progression is highly variable between idividuals following diagnosis of type 2 diabetes.RESEARCH DESIGN AND METHODSWe studied 5,250 patients with type 2 diabetes using comprehensive electronic medical records in Tayside, Scotland, from 1992 onward. We investigated the association of clinical, biochemical,

Time-resolved metabolomics analysis of beta-cells implicates the pentose phosphate pathway in the control of insulin release

Insulin secretion is coupled with changes in beta-cell metabolism. To define this process, 195 putative metabolites, mitochondrial respiration, NADP(+), NADPH and insulin secretion were measured within 15 mm of stimulation of clonal INS-1 832/13 beta-cells with glucose. Rapid responses in the major metabolic pathways of glucose occurred, involving several previously suggested metabolic coupling fa

Genetic Predictors of Weight Loss and Weight Regain After Intensive Lifestyle Modification, Metformin Treatment, or Standard Care in the Diabetes Prevention Program

OBJECTIVE-We tested genetic associations with weight loss and weight regain in the Diabetes Prevention Program, a randomized controlled trial of weight-loss inducing interventions (lifestyle and metformin) versus placebo. RESEARCH DESIGN AND METHODS-Sixteen obesity-predisposing single nucleotide polymorphisms (SNPs) were tested for association with short-term (baseline to 6 months) and long-term (

Fruit and vegetable intake and type 2 diabetes: EPIC-InterAct prospective study and meta-analysis

Fruit and vegetable intake (FVI) may reduce the risk of type 2 diabetes (T2D), but the epidemiological evidence is inconclusive. The aim of this study is to examine the prospective association of FVI with T2D and conduct an updated meta-analysis. In the European Prospective Investigation into Cancer-InterAct (EPIC-InterAct) prospective case-cohort study nested within eight European countries, a re

Genetic and epigenetic catalysts in early-life programming of adult cardiometabolic disorders.

Evidence has emerged across the past few decades that the lifetime risk of developing morbidities like type 2 diabetes, obesity, and cardiovascular disease may be influenced by exposures that occur in utero and in childhood. Developmental abnormalities are known to occur at various stages in fetal growth. Epidemiological and mechanistic studies have sought to delineate developmental processes and

Estimation of Daily Energy Expenditure in Pregnant and Non-Pregnant Women Using a Wrist-Worn Tri-Axial Accelerometer

Background: Few studies have compared the validity of objective measures of physical activity energy expenditure (PAEE) in pregnant and non-pregnant women. PAEE is commonly estimated with accelerometers attached to the hip or waist, but little is known about the validity and participant acceptability of wrist attachment. The objectives of the current study were to assess the validity of a simple s

Development of Protocols for Metabolomics in Biomedical Research using Chemometrics

Metabolomics is a rapidly growing research field. It aims for quantification of all the metabolites in a biological sample such as plasma, saliva, cerebrospinal fluid or cells. Because the metabolite levels in a biological sample are the end result of the regulatory processes in cells, metabolomics is a very powerful approach for characterisation of phenotypes. Metabolomics has been used to find d