120 hasil untuk "Alexander Teumer"

Common Methods for Performing Mendelian Randomization

Alexander Teumer

Frontiers in Cardiovascular Medicine, Vol. 5 · 2018 · Inggris · DOAJ Scopus

Mendelian randomization (MR) is a framework for assessing causal inference using cross-sectional data in combination with genetic information. This paper summarizes statistical methods commonly applied and strait forward to use for conducting MR analyses including those taking advantage of the rich…

Mendelian randomization indicates causal effects of estradiol levels on kidney function in males

M. Kamal Nasr; Claudia Schurmann; Erwin P. Böttinger dkk.

Frontiers in Endocrinology, Vol. 14 · 2023 · Inggris · DOAJ Scopus

ContextChronic kidney disease (CKD) is a public health burden worldwide. Epidemiological studies observed an association between sex hormones, including estradiol, and kidney function.ObjectiveWe conducted a Mendelian randomization (MR) study to assess a possible causal effect of estradiol levels…

Discovery of novel eGFR-associated multiple independent signals using a quasi-adaptive method

Sahar Ghasemi; Tim Becker; Hans J. Grabe dkk.

Frontiers in Genetics, Vol. 13 · 2022 · Inggris · DOAJ Scopus

A decreased estimated glomerular filtration rate (eGFR) leading to chronic kidney disease is a significant public health problem. Kidney function is a heritable trait, and recent application of genome-wide association studies (GWAS) successfully identified multiple eGFR-associated genetic loci. To…

The impact of glucose and metabolic disturbances on white matter hyperintensity volume in apparently healthy adults

Aleksandra Szum-Jakubowska; Marlena Dubatówka; Małgorzata Chlabicz dkk.

Frontiers in Endocrinology, Vol. 17 · 2026 · Inggris · DOAJ Scopus

BackgroundWhite matter hyperintensities (WMHs), commonly seen in brain magnetic resonance imaging (MRI), are linked to cognitive decline and may be influenced by cardiovascular risk factors. This study explores the relationship between diabetes, prediabetes, metabolic syndrome, and the presence of…

Functional polymorphisms of the mineralocorticoid receptor gene NR3C2 are associated with diminished memory decline: Results from a longitudinal general‐population study

Jan Terock; Sandra Van der Auwera; Deborah Janowitz dkk.

Molecular Genetics & Genomic Medicine, Vol. 8 No. 9 · 2020 · Inggris · DOAJ Scopus

Abstract Background The mineralocorticoid receptor (MR) in the brain has a key role in the regulation of the central stress response and is associated with memory performance. We investigated whether the genetic polymorphisms rs5522 and rs2070951 of NR3C2 showed main and interactive effects with…

Association of Telomere Length With Risk of Disease and Mortality

Carolin Victoria Schneider; Kai Markus Schneider; Alexander Teumer dkk.

JAMA Internal Medicine · 2022 · Inggris · OpenAlex Scopus

IMPORTANCE: Telomeres protect DNA from damage. Because they shorten with each mitotic cycle, leukocyte telomere length (LTL) serves as a mitotic clock. Reduced LTL has been associated with multiple human disorders. OBJECTIVE: To determine the association between LTL and overall as well as…

New insights into the hypothalamic–pituitary– thyroid axis: a transcriptome- and proteome-wide association study

Sara Monteiro-Martins; Rosalie B T M Sterenborg; Oleg Borisov dkk.

European Thyroid Journal, Vol. 13 No. 3 · 2024 · Inggris · DOAJ Scopus

Introduction: Thyroid hormones have systemic effects on the human body and play a key role in the development and function of virtually all tissues. They are regulated via the hypothalamic–pituitary–thyroid (HPT) axis and have a heritable component. Using genetic information, we applied…

Thyroid function and risk of sepsis: a population-based prospective cohort study with traditional and genetic epidemiological analyses

Marianne S. Thorkildsen; Lise T. Gustad; Bjørn O. Åsvold dkk.

Frontiers in Endocrinology, Vol. 17 · 2026 · Inggris · DOAJ Scopus

IntroductionA recent two-sample Mendelian randomization study suggested a possible causal association between hypothyroidism and selected sepsis types. We address this knowledge gap by examining the association between thyroid-stimulating hormone (TSH) levels and risk of sepsis and severe…

Analysis of epidemiological association patterns of serum thyrotropin by combining random forests and Bayesian networks

Ann-Kristin Becker; Till Ittermann; Markus Dörr dkk.

PLOS ONE, Vol. 17 No. 7 · 2022 · Inggris · PLOS Scopus

Background: Approaching epidemiological data with flexible machine learning algorithms is of great value for understanding disease-specific association patterns. However, it can be difficult to correctly extract and understand those patterns due to the lack of model interpretability. Method: We…

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Correction: Analysis of epidemiological association patterns of serum thyrotropin by combining random forests and Bayesian networks

Ann-Kristin Becker; Till Ittermann; Markus Dörr dkk.

PLOS ONE, Vol. 18 No. 11 · 2023 · Inggris · PLOS Scopus

[This corrects the article DOI: 10.1371/journal.pone.0271610.].

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Cross-sectional and longitudinal association of seven DNAm-based predictors with metabolic syndrome and type 2 diabetes

Suet Mei Chew; Alexander Teumer; Pamela R. Matías‑García dkk.

Clinical Epigenetics, Vol. 17 No. 1 · 2025 · Inggris · DOAJ Scopus

Abstract Background To date, various epigenetic clocks have been constructed to estimate biological age, most commonly using DNA methylation (DNAm). These include “first-generation” clocks such as DNAmAgeHorvath and “second-generation” clocks such as DNAmPhenoAge and DNAmGrimAge. The divergence of…

Limited evidence for blood eQTLs in human sexual dimorphism

Eleonora Porcu; Annique Claringbould; Antoine Weihs dkk.

Genome Medicine, Vol. 14 No. 1 · 2022 · Inggris · DOAJ Scopus

Abstract Background The genetic underpinning of sexual dimorphism is very poorly understood. The prevalence of many diseases differs between men and women, which could be in part caused by sex-specific genetic effects. Nevertheless, only a few published genome-wide association studies (GWAS) were…

Effects of Apolipoprotein E polymorphism on carotid intima-media thickness, incident myocardial infarction and incident stroke

Anitha Pitchika; Marcello Ricardo Paulista Markus; Sabine Schipf dkk.

Scientific Reports, Vol. 12 No. 1 · 2022 · Inggris · DOAJ Scopus

Abstract The Apolipoprotein E (APOE) gene polymorphism (rs429358 and rs7412) shows a well-established association with lipid profiles, but its effect on cardiovascular disease is still conflicting. Therefore, we examined the association of different APOE alleles with common carotid artery…

Imputation-powered whole-exome analysis identifies genes associated with kidney function and disease in the UK Biobank

Matthias Wuttke; Eva König; Maria-Alexandra Katsara dkk.

Nature Communications, Vol. 14 No. 1 · 2023 · Inggris · DOAJ Scopus

An exome wide association study of UK Biobank data revealed 158 variants and 105 genes significantly associated with kidney function traits and disease. The findings are supported by functional evidence for a previously unreported mutation in CLDN10.

OTTERS: a powerful TWAS framework leveraging summary-level reference data

Qile Dai; Geyu Zhou; Hongyu Zhao dkk.

Nature Communications, Vol. 14 No. 1 · 2023 · Inggris · DOAJ Scopus

Here, the authors present a TWAS framework OTTERS that adapts multiple polygenic risk score methods to estimate eQTL weights from summary-level eQTL data. Both simulation and real studies show OTTERS is powerful across a wide range of genetic architectures.

Whole Exome Sequencing Enhanced Imputation Identifies 85 Metabolite Associations in the Alpine CHRIS Cohort

Eva König; Johannes Rainer; Vinicius Verri Hernandes dkk.

Metabolites, Vol. 12 No. 7 · 2022 · Inggris · DOAJ Scopus

Metabolites are intermediates or end products of biochemical processes involved in both health and disease. Here, we take advantage of the well-characterized Cooperative Health Research in South Tyrol (CHRIS) study to perform an exome-wide association study (ExWAS) on absolute concentrations of 175…

Genome-wide association study of 1,5-anhydroglucitol identifies novel genetic loci linked to glucose metabolism

Man Li; Nisa M. Maruthur; Stephanie J. Loomis dkk.

Scientific Reports, Vol. 7 No. 1 · 2017 · Inggris · DOAJ Scopus

Abstract 1,5-anhydroglucitol (1,5-AG) is a biomarker of hyperglycemic excursions associated with diabetic complications. Because of its structural similarity to glucose, genetic studies of 1,5-AG can deliver complementary insights into glucose metabolism. We conducted genome-wide association…

Novel (sulfated) thyroid hormone transporters in the solute carrier 22 family

Zhongli Chen; Robin P Peeters; Wesley Flach dkk.

European Thyroid Journal, Vol. 12 No. 4 · 2023 · Inggris · DOAJ Scopus

Objective: Thyroid hormone (TH) transport represents a critical first step in governing intracellular TH regulation. It is still unknown whether the full repertoire of TH transporters has been identified. Members of the solute carrier (SLC) 22 family have substrates in common with the known TH…