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  1. Article

    Open Access

    Genetic 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...

    Yordi J. van de Vegte, Ruben N. Ep**a, M. Yldau van der Ende in Nature Communications (2023)

  2. Article

    Open Access

    Pharmacogenetic association of diabetes-associated genetic risk score with rapid progression of coronary artery calcification following treatment with HMG-CoA-reductase inhibitors —results of the Heinz Nixdorf Recall Study

    HMG-CoA-Reductase inhibitors (HMGRIs) are currently the most widely used group of drugs in patients with coronary artery disease (CAD) and are given preemptively to patients with high levels of cholesterol, in...

    Sonali Pechlivanis, Dominik Jung in Naunyn-Schmiedeberg's Archives of Pharmaco… (2021)

  3. Article

    Open Access

    Klotho KL-VS haplotype does not improve cognition in a population-based sample of adults age 55–87 years

    The heterozygous human Klotho KL-VS haplotype has been associated with improved cognitive performance but results are inconsistent. Here we assessed Klotho KL-VS haplotype and cognition using data from the thi...

    Bernhard W. Müller, Anke Hinney, Norbert Scherbaum, Christian Weimar in Scientific Reports (2021)

  4. Article

    Open Access

    Hypoxia-inducible factor-2α is crucial for proper brain development

    Sufficient tissue oxygenation is required for regular brain function; thus oxygen supply must be tightly regulated to avoid hypoxia and irreversible cell damage. If hypoxia occurs the transcription factor comp...

    Kira Kleszka, Tristan Leu, Theresa Quinting, Holger Jastrow in Scientific Reports (2020)

  5. Article

    Open Access

    Risk prediction for coronary heart disease by a genetic risk score - results from the Heinz Nixdorf Recall study

    A Genetic risk score for coronary artery disease (CAD) improves the ability of predicting coronary heart disease (CHD). It is unclear whether i) the use of a CAD genetic risk score is superior to the measureme...

    Sonali Pechlivanis, Nils Lehmann, Per Hoffmann, Markus M. Nöthen in BMC Medical Genetics (2020)

  6. Article

    Open Access

    Association between lipoprotein(a) (Lp(a)) levels and Lp(a) genetic variants with coronary artery calcification

    To examine the association between lipoprotein(a) (Lp(a)) levels, LPA (rs10455872 and rs3798220) and IL1F9 (rs13415097) single nucleotide polymorphisms (SNPs) with coronary artery calcification (CAC), an importan...

    Sonali Pechlivanis, Amir A. Mahabadi, Per Hoffmann in BMC Medical Genetics (2020)

  7. No Access

    Article

    HDAC9 is implicated in atherosclerotic aortic calcification and affects vascular smooth muscle cell phenotype

    Aortic calcification is an important independent predictor of future cardiovascular events. We performed a genome-wide association meta-analysis to determine SNPs associated with the extent of abdominal aortic...

    Rajeev Malhotra, Andreas C. Mauer, Christian L. Lino Cardenas in Nature Genetics (2019)

  8. Article

    Open Access

    Enrichment of B cell receptor signaling and epidermal growth factor receptor pathways in monoclonal gammopathy of undetermined significance: a genome-wide genetic interaction study

    Recent identification of 10 germline variants predisposing to monoclonal gammopathy of undetermined significance (MGUS) explicates genetic dependency of this asymptomatic precursor condition with multiple myel...

    Subhayan Chattopadhyay, Hauke Thomsen, Miguel Inacio da Silva Filho in Molecular Medicine (2018)

  9. Article

    Open Access

    Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness

    Male-pattern baldness (MPB) is a common and highly heritable trait characterized by androgen-dependent, progressive hair loss from the scalp. Here, we carry out the largest GWAS meta-analysis of MPB to date, c...

    Stefanie Heilmann-Heimbach, Christine Herold, Lara M. Hochfeld in Nature Communications (2017)

  10. Article

    Open Access

    A statistical model for the analysis of beta values in DNA methylation studies

    The analysis of DNA methylation is a key component in the development of personalized treatment approaches. A common way to measure DNA methylation is the calculation of beta values, which are bounded variable...

    Leonie Weinhold, Simone Wahl, Sonali Pechlivanis, Per Hoffmann in BMC Bioinformatics (2016)

  11. No Access

    Article

    Genetic fine map** and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

    Kyle Gaulton, Mark McCarthy, Andrew Morris and colleagues report fine map** and genomic annotation of 39 established type 2 diabetes susceptibility loci. They find that the set of potential causal variants i...

    Kyle J Gaulton, Teresa Ferreira, Yeji Lee, Anne Raimondo, Reedik Mägi in Nature Genetics (2015)

  12. No Access

    Article

    New genetic loci link adipose and insulin biology to body fat distribution

    Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distr...

    Dmitry Shungin, Thomas W. Winkler, Damien C. Croteau-Chonka, Teresa Ferreira in Nature (2015)

  13. No Access

    Article

    Genetic studies of body mass index yield new insights for obesity biology

    Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), ...

    Adam E. Locke, Bratati Kahali, Sonja I. Berndt, Anne E. Justice, Tune H. Pers in Nature (2015)

  14. No Access

    Article

    Defining the role of common variation in the genomic and biological architecture of adult human height

    Timothy Frayling, Joel Hirschhorn, Peter Visscher and colleagues report a meta-analysis of genome-wide association studies for adult height in 253,288 individuals. They identify 697 variants in 423 loci signif...

    Andrew R Wood, Tonu Esko, Jian Yang, Sailaja Vedantam, Tune H Pers in Nature Genetics (2014)

  15. Article

    Open Access

    Exploring genetic variants predisposing to diabetes mellitus and their association with indicators of socioeconomic status

    The relevance of disease-related genetic variants for the explanation of social inequalities in complex diseases is unclear and empirical analyses are largely missing. The aim of our study was to examine wheth...

    Börge Schmidt, Nico Dragano, André Scherag, Sonali Pechlivanis in BMC Public Health (2014)

  16. No Access

    Article

    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

    Andrew Morris, Mark McCarthy, Michael Boehnke and colleagues report a meta-analysis of genome-wide association studies for type 2 diabetes, including 26,488 cases and 83,964 controls from populations of Europe...

    Anubha Mahajan, Min ** Go, Weihua Zhang, Jennifer E Below in Nature Genetics (2014)

  17. No Access

    Article

    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

    Erik Ingelsson and colleagues report a large-scale genome-wide meta-analysis for associations to the extremes of anthropometric traits, including body mass index, height, waist-to-hip ratio and clinical obesit...

    Sonja I Berndt, Stefan Gustafsson, Reedik Mägi, Andrea Ganna in Nature Genetics (2013)

  18. Article

    Open Access

    Risk loci for coronary artery calcification replicated at 9p21 and 6q24 in the Heinz Nixdorf Recall Study

    Atherosclerosis is the primary cause of coronary heart disease (CHD), preceding the onset of cardiovascular disease by decades in most cases. Here we examine the association between single nucleotide polymorph...

    Sonali Pechlivanis, Thomas W Mühleisen, Stefan Möhlenkamp in BMC Medical Genetics (2013)

  19. Article

    Open Access

    Microsomal triglyceride transfer protein -164 T > C gene polymorphism and risk of cardiovascular disease: results from the EPIC-Potsdam case-cohort study

    The microsomal triglyceride transfer protein (MTTP) is encoded by the MTTP gene that is regulated by cholesterol in humans. Previous studies investigating the effect of MTTP on ischemic heart disease have produce...

    Romina di Giuseppe, Sonali Pechlivanis, Eva Fisher, Maria Arregui in BMC Medical Genetics (2013)