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117 Result(s)
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Article
Open AccessMonogenic hypertriglyceridemia and recurrent pancreatitis in a homozygous carrier of a rare APOA5 mutation: a case report
Homozygous mutations in the APOA5 gene constitute a rare cause of monogenic hypertriglyceridemia, or familial chylomicronemia syndrome (FCS). We searched PubMed and identified 16 cases of homozygous mutations in ...
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Open AccessSex and statin-related genetic associations at the PCSK9 gene locus: results of genome-wide association meta-analysis
Proprotein convertase subtilisin/kexin type 9 (PCSK9) is a key player of lipid metabolism with higher plasma levels in women throughout their life. Statin treatment affects PCSK9 levels also showing evidence o...
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Open AccessX-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements
X-chromosomal genetic variants are understudied but can yield valuable insights into sexually dimorphic human traits and diseases. We performed a sex-stratified cross-ancestry X-chromosome-wide association met...
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Open AccessClusters of prediabetes and type 2 diabetes stratify all-cause mortality in a cohort of participants undergoing invasive coronary diagnostics
Heterogeneous metabolic clusters have been identified in diabetic and prediabetic states. It is not known whether such pathophysiologic clusters impact survival in at-risk persons being evaluated for coronary ...
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Open AccessGenetic insights into resting heart rate and its role in cardiovascular disease
Resting heart rate is associated with cardiovascular diseases and mortality in observational and Mendelian randomization studies. The aims of this study are to extend the number of resting heart rate associate...
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Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake
Distinct tissue-specific mechanisms mediate insulin action in fasting and postprandial states. Previous genetic studies have largely focused on insulin resistance in the fasting state, where hepatic insulin ac...
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Author Correction: The power of genetic diversity in genome-wide association studies of lipids
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Reply to: Apolipoprotein C3 induces inflammasome activation only in its delipidated form
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Hypercholesterolemia diagnosis, treatment patterns and target achievement in patients with acute coronary syndromes in Germany
Patients who experience an acute coronary syndrome (ACS) are at high risk of further cardiovascular events. Long-term treatment of cardiovascular risk factors, such as hyperlipidemia, is critical to prevent pr...
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Open AccessImplicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis
Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understandi...
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Article
Stellenwert primärer Fettstoffwechselstörungen im Kontext aktueller Dyslipidämie-Leitlinien und aktueller Innovationen in der Lipidtherapie
Kern aktueller Leitlinien zur Prävention kardiovaskulärer Erkrankungen ist die Empfehlung einer risikobasierten Intensität LDL-Cholesterin senkender Maßnahmen. Spezifischen primären Fettstoffwechselstörungen k...
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Article
Open AccessA saturated map of common genetic variants associated with human height
Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sa...
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Open AccessDifferential and shared genetic effects on kidney function between diabetic and non-diabetic individuals
Reduced glomerular filtration rate (GFR) can progress to kidney failure. Risk factors include genetics and diabetes mellitus (DM), but little is known about their interaction. We conducted genome-wide associat...
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Open AccessSerum markers of fibrosis, cardiovascular and all-cause mortality in hemodialysis patients: the AURORA trial
Biomarkers of fibrosis are associated with outcome in several cardiovascular diseases. However, their relevance to chronic kidney disease and dialysis is uncertain, as it remains unclear how the kidneys and th...
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Open AccessAuthor Correction: Genome-wide meta-analysis of phytosterols reveals five novel loci and a detrimental effect on coronary atherosclerosis
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Open AccessGenome-wide meta-analysis of phytosterols reveals five novel loci and a detrimental effect on coronary atherosclerosis
Phytosterol serum concentrations are under tight genetic control. The relationship between phytosterols and coronary artery disease (CAD) is controversially discussed. We perform a genome-wide meta-analysis of...
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Open AccessMeta-analyses identify DNA methylation associated with kidney function and damage
Chronic kidney disease is a major public health burden. Elevated urinary albumin-to-creatinine ratio is a measure of kidney damage, and used to diagnose and stage chronic kidney disease. To extend the knowledg...
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Open AccessEpigenome-wide association study of serum urate reveals insights into urate co-regulation and the SLC2A9 locus
Elevated serum urate levels, a complex trait and major risk factor for incident gout, are correlated with cardiometabolic traits via incompletely understood mechanisms. DNA methylation in whole blood captures ...
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The power of genetic diversity in genome-wide association studies of lipids
Increased blood lipid levels are heritable risk factors of cardiovascular disease with varied prevalence worldwide owing to different dietary patterns and medication use1. Despite advances in prevention and treat...
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Open AccessFH ALERT: efficacy of a novel approach to identify patients with familial hypercholesterolemia
Diagnosis rates of familial hypercholesterolemia (FH) remain low. We implemented FH ALERT to assess whether alerting physicians for the possibility of FH impacted additional diagnostic activity. The study was ...