Janne Pott

About Janne Pott:
No description specified

LHA ID: 7WWC6YJJU9-1

Location:  Germany

ORCID: https://orcid.org/0000-0002-5983-5331

Joined: 19th Jun 2019

Expertise: Not specified

Tools: Not specified

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LIFE Heart

The LIFE-Heart study recruited 7,000 patients with suspected coronary heart disease, manifest heart disease or myocardial infarction. All patients received coronary angiography so that the vascular status in the heart is precisely known. In principle, this examination is not feasible in population-related studies. In addition, the patients were thoroughly examined with regard to the general vascular status and the health of the cardiovascular system. Extensive environmental factors were recorded. ...

Programme: LIFE Management Cluster

Public web page: http://life.uni-leipzig.de/

Start date: 1st Jan 2009

LIFE - Leipzig Research Center for Civilization Diseases

Goal of the Leipzig Research Center for Civilization Diseases (LIFE) is the investigation of civilization diseases like depression, diabetes, allergies or cardiovascular diseases. For this purpose we collect as much data as possible regarding health and living conditions of the population in Leipzig and provide these data for scientists of the University of Leipzig and other research institutions.

Programme: LIFE Management Cluster

Public web page: http://life.uni-leipzig.de/

Start date: 1st Jan 2009

LIFE Adult

This population-based study examined 10,000 participants randomly selected from the Leipzig population (2011 to 2014). A follow-up is to be carried out from 2017 - 2020. The study mainly included people aged between 40 and 79. All participants underwent a 6-hour study program and people over 60 years of age were invited two more times to in-depth study of cognition and depression and the brain (MRI, EEG). Extensive measurements of genome, metabolome and transcriptome are available. The LIFE-ADULT ...

Programme: LIFE Management Cluster

Public web page: http://life.uni-leipzig.de/en/adults/life_adult.html

Start date: 1st Jan 2009

Genetical Statistics and Systems Biology

The group is interested in omic-level studies including the genome, methylome, transcriptome, and metabolome of the general population as well as of various diseases including cardiovascular diseases, pneumonia, sepsis, obesity, and brain cancers. Additionally, we aim at transfering results of biomathematical model simulations into clinical practice e.g. by haematopoietic growth-factor opimization during cytotoxic chemotherapy and optimization of EPO applications in chronic kidney disease.

The ...

Programme: This Project is not associated with a Programme

Public web page: http://www.imise.uni-leipzig.de/en/Groups/GenStat/

Start date: 1st Jan 2013

GWAMA PCSK9
LIFE Adult, Genetical Statistics and Systems Biology, LIFE Heart

Summary statistics of Meta-GWAS results will be made available upon acceptance of our manuscript.

Submitter: Janne Pott

Investigation: OMICS Investigations

Resources: Summary Statistics

Study type: Genetic study

GWAMA Steroid hormones
LIFE Adult, Genetical Statistics and Systems Biology, LIFE Heart

Genome-wide Association Meta-Analyses of four steroid hormones (progesterone, 17-OH-progesterone, androstenedione, and aldosterone) and the ratio of testosterone to estradiol. Summary statistics of GWAMA results will be made available upon acceptance of our manuscript.

Submitter: Janne Pott

Investigation: OMICS Investigations

Resources: No Resources

Study type: Genetic study

GWAMA Phytosterole
LIFE Adult, Genetical Statistics and Systems Biology, LIFE Heart

Genome-wide Association Meta-Analyses of 32 phytosterol traits reflecting resorption, cholesterol synthesis and esterification in six studies with up to 9,758 subjects Summary statistics of GWAMA results will be made available upon acceptance of our manuscript.

Submitter: Janne Pott

Investigation: OMICS Investigations

Resources: Summary Statistics - Phytosterols

Study type: Genetic study

GWAS Body Scanner Measures
LIFE Adult, Genetical Statistics and Systems Biology, LIFE Heart
No description specified

Submitter: Janne Pott

Investigation: OMICS Investigations

Resources: Summary Statistics

Study type: Genetic study

GWAS Pulse Wave Velocity
LIFE Adult, Genetical Statistics and Systems Biology, LIFE Heart

We analysed if measuring PWV in different segments of the body leads to association with different genetic variants, as well as different heritability and different genetic correlation with other biological traits. Furthermore we searched for shared genetic architecture concerning PWV, blood pressure (BP) and coronary artery disease (CAD) and examined the causal relationship between PWV and BP.

Submitter: Janne Pott

Investigation: OMICS Investigations

Resources: Summary Statistic for PWV GWAS

Study type: Genetic study

GWAS Carotid Plaque Burden
LIFE Adult, Genetical Statistics and Systems Biology, LIFE Heart

We defined six operationalizations of CPB considering plaques in common carotid arteries, carotid bulb, and internal carotid arteries (maximal plaque area, mean plaque area, sum of plaque areas at all six regions, maximal degree of stenosis, mean degree of stenosis, and sum of stenosis at all six regions). Link to publication (PMID, DOI), Supplemental Figures and Tables, and Summary Statistics of GWAS will be made available upon acceptance of our manuscript.

Submitter: Janne Pott

Investigation: OMICS Investigations

Resources: Summary Statistics

Study type: Genetic study

GWAS Steroid Hormones
LIFE Adult, Genetical Statistics and Systems Biology, LIFE Heart

Supplement Data for Publication including Supplement Material & Results (eQTL annotation, Mendelian Randomization (MR), further significant loci), Figures (correlation plot of steroid hormones, scatter plot of genetic effect sizes, regional association plots, scatter plots of MR) and Tables (Correlations, GWAS summary statistics, interaction tests, MR results)

Submitter: René Hänsel

Investigation: OMICS Investigations

Resources: Summary Statistics, Supplement Data

Study type: Genetic study

Summary Statistics
LIFE Adult, Genetical Statistics and Systems Biology, LIFE Heart

We are releasing the summary data from our GWAMA of PCSK9 levels, pending on acceptance of our publication, to empower other researchers to examine variants or loci in which they are interested for associations. These data are intended for research purposes only.

Citation: tba

When using this data acknowledge the source as follows: 'Data on PCSK9 has been downloaded from https://www.health-atlas.de/data_files/551.'

For any enquiries about the datasets, please contact Janne Pott (janne.pott@imise.uni-leipzig.de) ...

Submitter: Janne Pott

Resource type: Experimental Assay Type

Technology type: SNP Array

Investigation: OMICS Investigations

Study: GWAMA PCSK9

Summary Statistics - Phytosterols
LIFE Adult, Genetical Statistics and Systems Biology, LIFE Heart

We are releasing the summary data from our GWAMA of phytosterol traits, pending on acceptance of our publication, to empower other researchers to examine variants or loci in which they are interested for associations. These data are intended for research purposes only.

Citation: tba

When using this data acknowledge the source as follows: 'Data on phytosterol X has been contributed by LIFE investigators and has been downloaded from https://www.health-atlas.de/assays/53.'

For any enquiries about ...

Submitter: Janne Pott

Resource type: Experimental Assay Type

Technology type: SNP Array

Investigation: OMICS Investigations

Study: GWAMA Phytosterole

Summary Statistics
LIFE Adult, Genetical Statistics and Systems Biology, LIFE Heart

We are releasing the summary data from our GWAS of carotid plaque burden traits, pending on acceptance of our publication, to empower other researchers to examine variants or loci in which they are interested for associations. These data are intended for research purposes only.

Citation:

When using this data acknowledge the source as follows: 'Data on carotid plaque burden has been contributed by LIFE-Adult investigators and has been downloaded from https://www.health-atlas.de/assays/31 '

For any ...

Submitter: Janne Pott

Resource type: Genome Wide Association

Technology type: SNP Array

Investigation: OMICS Investigations

Study: GWAS Carotid Plaque Burden

Summary Statistics
LIFE Adult, Genetical Statistics and Systems Biology, LIFE Heart

We are releasing the summary data from our meta-analyses of steroid hormones, to empower other researchers to examine variants or loci in which they are interested for association with these hormonal traits. These data are intended for research purposes only.

Citation: Pott et al. (2019) Genetic Association Study of Eight Steroid Hormones and Implications for Sexual Dimorphism of Coronary Artery Disease. J Clin Endocrinol Metab 104: 5008–5023. PubMed ID: 31169883

When using this data acknowledge ...

Submitter: Janne Pott

Resource type: Genome Wide Association

Technology type: SNP Array

Investigation: OMICS Investigations

Study: GWAS Steroid Hormones

Supplement Data
LIFE Adult, Genetical Statistics and Systems Biology, LIFE Heart

The primary goal of this study was to identify genetic loci associated with steroid hormone levels (cortisol, DHEA-S, testosterone, estradiol, progesterone, 17-hydroxyprogesterone, androstenedione, and aldosterone). In a secondary analysis, we searched for causal effects of steroid hormones on coronary artery disease.

Submitter: René Hänsel

Resource type: Experimental Assay Type

Technology type: Technology Type

Investigation: OMICS Investigations

Study: GWAS Steroid Hormones

Genome-wide association analysis of pulse wave velocity traits provide new insights into the causal relationship between arterial stiffness and blood pressure
LIFE Adult

Abstract (Expand)

Background The pathophysiology of arterial stiffness is not completely understood. Pulse wave velocity (PWV) is an established marker for arterial stiffness. We compare genetics of three PWV modes, … namely carotid-femoral PWV (cfPWV), brachial-ankle (baPWV) and brachial-femoral (bfPWV), reflecting different vascular segments to analyse association with genetic variants, heritability and genetic correlation with other biological traits. Furthermore we searched for shared genetic architecture concerning PWV, blood pressure (BP) and coronary artery disease (CAD) and examined the causal relationship between PWV and BP. Methods and results We performed a genome-wide association study (GWAS) for cfPWV, baPWV and bfPWV in LIFE-Adult (N = 3,643–6,734). We analysed the overlap of detected genetic loci with those of BP and CAD and performed genetic correlation analyses. By bidirectional Mendelian Randomization, we assessed the causal relationships between PWV and BP. For cfPWV we identified a new locus with genome-wide significance near SLC4A7 on cytoband 3p24.1 (lead SNP rs939834: p = 2.05x10-8). We replicated a known PWV locus on cytoband 14q32.2 near RP11-61O1.1 (lead SNPs: rs17773233, p = 1.38x10-4; rs1381289, p = 1.91x10-4) For baPWV we estimated a heritability of 28% and significant genetic correlation with hypertension (rg = 0.27, p = 6.65x10-8). We showed a positive causal effect of systolic blood pressure on PWV modes (cfPWV: p = 1.51x10-4; bfPWV: p = 1.45x10-3; baPWV: p = 6.82x10-15). Conclusions We identified a new locus for arterial stiffness and successfully replicated an earlier proposed locus. PWV shares common genetic architecture with BP and CAD. BP causally affects PWV. Larger studies are required to further unravel the genetic determinants and effects of PWV.

Authors: Michael Rode, Andrej Teren, Kerstin Wirkner, Katrin Horn, Holger Kirsten, Markus Loeffler, Markus Scholz, Janne Pott

Date Published: 13th Aug 2020

Publication Type: Journal article

Human Diseases: arteriosclerosis, arteriosclerotic cardiovascular disease

Cohort profile: The Leipzig Research Center for Civilization Diseases–Heart study (LIFE-Heart)
Genetical Statistics and Systems Biology

Abstract

Not specified

Authors: Markus Scholz, Sylvia Henger, Frank Beutner, Andrej Teren, Ronny Baber, Anja Willenberg, Uta Ceglarek, Janne Pott, Ralph Burkhardt, Joachim Thiery

Date Published: 3rd Aug 2020

Publication Type: Journal article

Genome-wide analysis of carotid plaque burden suggests a role of IL5 in men.
Genetical Statistics and Systems Biology

Abstract (Expand)

BACKGROUND: Carotid artery plaque is an established marker of subclinical atherosclerosis with pronounced sex-dimorphism. Here, we aimed to identify genetic variants associated with carotid plaque … burden (CPB) and to examine potential sex-specific genetic effects on plaque sizes. METHODS AND RESULTS: We defined six operationalizations of CPB considering plaques in common carotid arteries, carotid bulb, and internal carotid arteries. We performed sex-specific genome-wide association analyses for all traits in the LIFE-Adult cohort (n = 727 men and n = 550 women) and tested significantly associated loci for sex-specific effects. In order to identify causal genes, we analyzed candidate gene expression data for correlation with CPB traits and corresponding sex-specific effects. Further, we tested if previously reported SNP associations with CAD and plaque prevalence are also associated with CBP. We found seven loci with suggestive significance for CPB (p<3.33x10-7), explaining together between 6 and 13% of the CPB variance. Sex-specific analysis showed a genome-wide significant hit for men at 5q31.1 (rs201629990, beta = -0.401, p = 5.22x10-9), which was not associated in women (beta = -0.127, p = 0.093) with a significant difference in effect size (p = 0.008). Analyses of gene expression data suggested IL5 as the most plausible candidate, as it reflected the same sex-specific association with CPBs (p = 0.037). Known plaque prevalence or CAD loci showed no enrichment in the association with CPB. CONCLUSIONS: We showed that CPB is a complementary trait in analyzing genetics of subclinical atherosclerosis. We detected a novel locus for plaque size in men only suggesting a role of IL5. Several estrogen response elements in this locus point towards a functional explanation of the observed sex-specific effect.

Authors: J. Pott, F. Beutner, K. Horn, H. Kirsten, K. Olischer, K. Wirkner, M. Loeffler, M. Scholz

Date Published: 30th May 2020

Publication Type: Journal article

Human Diseases: cardiovascular system disease, atherosclerosis

Genetic association study of eight steroid hormones and implications for sexual dimorphism of coronary artery disease
LIFE Adult, Genetical Statistics and Systems Biology, LIFE Heart

Abstract (Expand)

CONTEXT: Steroid hormones are important regulators of physiological processes in humans and are under genetic control. A link to coronary artery disease (CAD) is supposed. OBJECTIVE: Our main objective …e was to identify genetic loci influencing steroid hormone levels. As secondary aim, we searched for causal effects of steroid hormones on CAD. DESIGN: We conducted genome-wide meta-association studies for eight steroid hormones: cortisol, DHEA-S, estradiol and testosterone in two independent cohorts (LIFE-Adult, LIFE-Heart, max. n=7667), and progesterone, 17-hydroxyprogesterone, androstenedione and aldosterone in LIFE-Heart only (max. n=2070). All genome-wide significant loci were tested for sex interactions. Further, we tested if previously reported CAD SNPs were associated with our steroid hormone panel and investigated causal links between hormone levels and CAD status using Mendelian Randomization (MR) approaches. RESULTS: We discovered 15 novel associated loci for 17-hydroxyprogesterone, progesterone, DHEA-S, cortisol, androstenedione, and estradiol. Five of these loci relate to genes directly involved in steroid metabolism: CYP21A1, CYP11B1, CYP17A1, STS, and HSD17B12, almost completing the set of steroidogenic enzymes with genetic associations. Sexual dimorphisms were found for seven of the novel loci. Other loci correspond, e.g., to the WNT4/β-catenin pathway. MR revealed that cortisol, androstenedione, 17-hydroxyprogesterone and DHEA-S had causal effects on CAD. We also observed enrichment of cortisol and testosterone associations among known CAD hits. CONCLUSION: Our study greatly improves insight into genetic regulation of steroid hormones and their dependency on sex. These results could serve as a basis for analyzing sex-dimorphisms in other complex diseases.

Authors: J. Pott, YJ. Bae, K. Horn, A. Teren, Andreas Kühnapfel, H. Kirsten, U. Ceglarek, Markus Löffler, J. Thiery, J. Kratzsch, Markus Scholz

Date Published: 6th Jun 2019

Publication Type: Not specified

Human Diseases: coronary artery disease

A modular transcriptome map of mature B cell lymphomas.
GLA - German Lymphoma Alliance, MMML-MYC-SYS, oBIG - omics Bioinformatics for Health

Abstract (Expand)

BACKGROUND: Germinal center-derived B cell lymphomas are tumors of the lymphoid tissues representing one of the most heterogeneous malignancies. Here we characterize the variety of transcriptomic … phenotypes of this disease based on 873 biopsy specimens collected in the German Cancer Aid MMML (Molecular Mechanisms in Malignant Lymphoma) consortium. They include diffuse large B cell lymphoma (DLBCL), follicular lymphoma (FL), Burkitt's lymphoma, mixed FL/DLBCL lymphomas, primary mediastinal large B cell lymphoma, multiple myeloma, IRF4-rearranged large cell lymphoma, MYC-negative Burkitt-like lymphoma with chr. 11q aberration and mantle cell lymphoma. METHODS: We apply self-organizing map (SOM) machine learning to microarray-derived expression data to generate a holistic view on the transcriptome landscape of lymphomas, to describe the multidimensional nature of gene regulation and to pursue a modular view on co-expression. Expression data were complemented by pathological, genetic and clinical characteristics. RESULTS: We present a transcriptome map of B cell lymphomas that allows visual comparison between the SOM portraits of different lymphoma strata and individual cases. It decomposes into one dozen modules of co-expressed genes related to different functional categories, to genetic defects and to the pathogenesis of lymphomas. On a molecular level, this disease rather forms a continuum of expression states than clearly separated phenotypes. We introduced the concept of combinatorial pattern types (PATs) that stratifies the lymphomas into nine PAT groups and, on a coarser level, into five prominent cancer hallmark types with proliferation, inflammation and stroma signatures. Inflammation signatures in combination with healthy B cell and tonsil characteristics associate with better overall survival rates, while proliferation in combination with inflammation and plasma cell characteristics worsens it. A phenotypic similarity tree is presented that reveals possible progression paths along the transcriptional dimensions. Our analysis provided a novel look on the transition range between FL and DLBCL, on DLBCL with poor prognosis showing expression patterns resembling that of Burkitt's lymphoma and particularly on 'double-hit' MYC and BCL2 transformed lymphomas. CONCLUSIONS: The transcriptome map provides a tool that aggregates, refines and visualizes the data collected in the MMML study and interprets them in the light of previous knowledge to provide orientation and support in current and future studies on lymphomas and on other cancer entities.

Authors: H. Loeffler-Wirth, M. Kreuz, L. Hopp, A. Arakelyan, A. Haake, S. B. Cogliatti, A. C. Feller, M. L. Hansmann, D. Lenze, P. Moller, H. K. Muller-Hermelink, E. Fortenbacher, E. Willscher, G. Ott, A. Rosenwald, C. Pott, C. Schwaenen, H. Trautmann, S. Wessendorf, H. Stein, M. Szczepanowski, L. Trumper, M. Hummel, W. Klapper, R. Siebert, M. Loeffler, H. Binder

Date Published: 30th Apr 2019

Publication Type: Not specified

Human Diseases: B-cell lymphoma, diffuse large B-cell lymphoma, follicular lymphoma, Burkitt lymphoma

GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes
Genetical Statistics and Systems Biology

Abstract (Expand)

Carotid artery intima media thickness (cIMT) and carotid plaque are measures of subclinical atherosclerosis associated with ischemic stroke and coronary heart disease (CHD). Here, we undertake meta-analyses … of genome-wide association studies (GWAS) in 71,128 individuals for cIMT, and 48,434 individuals for carotid plaque traits. We identify eight novel susceptibility loci for cIMT, one independent association at the previously-identified PINX1 locus, and one novel locus for carotid plaque. Colocalization analysis with nearby vascular expression quantitative loci (cis-eQTLs) derived from arterial wall and metabolic tissues obtained from patients with CHD identifies candidate genes at two potentially additional loci, ADAMTS9 and LOXL4. LD score regression reveals significant genetic correlations between cIMT and plaque traits, and both cIMT and plaque with CHD, any stroke subtype and ischemic stroke. Our study provides insights into genes and tissue-specific regulatory mechanisms linking atherosclerosis both to its functional genomic origins and its clinical consequences in humans.

Authors: Nora Franceschini, Claudia Giambartolomei, Paul S. de Vries, Chris Finan, Joshua C. Bis, Rachael P. Huntley, Ruth C. Lovering, Salman M. Tajuddin, Thomas W. Winkler, Misa Graff, Maryam Kavousi, Caroline Dale, Albert V. Smith, Edith Hofer, Elisabeth M. van Leeuwen, Ilja M. Nolte, Lingyi Lu, Markus Scholz, Muralidharan Sargurupremraj, Niina Pitkänen, Oscar Franzén, Peter K. Joshi, Raymond Noordam, Riccardo E. Marioni, Shih-Jen Hwang, Solomon K. Musani, Ulf Schminke, Walter Palmas, Aaron Isaacs, Adolfo Correa, Alan B. Zonderman, Albert Hofman, Alexander Teumer, Amanda J. Cox, André G. Uitterlinden, Andrew Wong, Andries J. Smit, Anne B. Newman, Annie Britton, Arno Ruusalepp, Bengt Sennblad, Bo Hedblad, Bogdan Pasaniuc, Brenda W. Penninx, Carl D. Langefeld, Christina L. Wassel, Christophe Tzourio, Cristiano Fava, Damiano Baldassarre, Daniel H. O’Leary, Daniel Teupser, Diana Kuh, Elena Tremoli, Elmo Mannarino, Enzo Grossi, Eric Boerwinkle, Eric E. Schadt, Erik Ingelsson, Fabrizio Veglia, Fernando Rivadeneira, Frank Beutner, Ganesh Chauhan, Gerardo Heiss, Harold Snieder, Harry Campbell, Henry Völzke, Hugh S. Markus, Ian J. Deary, J. Wouter Jukema, Jacqueline de Graaf, Jacqueline Price, Janne Pott, Jemma C. Hopewell, Jingjing Liang, Joachim Thiery, Jorgen Engmann, Karl Gertow, Kenneth Rice, Kent D. Taylor, Klodian Dhana, Lambertus A. L. M. Kiemeney, Lars Lind, Laura M. Raffield, Lenore J. Launer, Lesca M. Holdt, Marcus Dörr, Martin Dichgans, Matthew Traylor, Matthias Sitzer, Meena Kumari, Mika Kivimaki, Mike A. Nalls, Olle Melander, Olli Raitakari, Oscar H. Franco, Oscar L. Rueda-Ochoa, Panos Roussos, Peter H. Whincup, Philippe Amouyel, Philippe Giral, Pramod Anugu, Quenna Wong, Rainer Malik, Rainer Rauramaa, Ralph Burkhardt, Rebecca Hardy, Reinhold Schmidt, Renée de Mutsert, Richard W. Morris, Rona J. Strawbridge, S. Goya Wannamethee, Sara Hägg, Sonia Shah, Stela McLachlan, Stella Trompet, Sudha Seshadri, Sudhir Kurl, Susan R. Heckbert, Susan Ring, Tamara B. Harris, Terho Lehtimäki, Tessel E. Galesloot, Tina Shah, Ulf de Faire, Vincent Plagnol, Wayne D. Rosamond, Wendy Post, Xiaofeng Zhu, Xiaoling Zhang, Xiuqing Guo, Yasaman Saba, Abbas Dehghan, Adrie Seldenrijk, Alanna C. Morrison, Anders Hamsten, Bruce M. Psaty, Cornelia M. van Duijn, Deborah A. Lawlor, Dennis O. Mook-Kanamori, Donald W. Bowden, Helena Schmidt, James F. Wilson, James G. Wilson, Jerome I. Rotter, Joanna M. Wardlaw, John Deanfield, Julian Halcox, Leo-Pekka Lyytikäinen, Markus Loeffler, Michele K. Evans, Stéphanie Debette, Steve E. Humphries, Uwe Völker, Vilmundur Gudnason, Aroon D. Hingorani, Johan L. M. Björkegren, Juan P. Casas, Christopher J. O’Donnell

Date Published: 1st Dec 2018

Publication Type: Journal article

Genetic Regulation of PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9) Plasma Levels and Its Impact on Atherosclerotic Vascular Disease Phenotypes
Genetical Statistics and Systems Biology

Abstract (Expand)

BACKGROUND Inhibition of PCSK9 (proprotein convertase subtilisin/kexin type 9) is a novel strategy to treat hypercholesterolemia and reduce cardiovascular events. However, the potential role of circulating …g plasma PCSK9 concentrations as a diagnostic and predictive biomarker remains uncertain as of now. Here, we aimed to identify genetic variants associated with plasma PCSK9 and investigate possible causal effects on atherosclerotic vascular disease phenotypes. METHODS We performed the first genome-wide association study of plasma PCSK9 levels in a cohort of suspected and confirmed coronary artery disease (LIFE-Heart; n=3290). RESULTS Several independent variants at the PCSK9 gene locus were associated with circulating PCSK9 levels at genome-wide significance (lead SNP rs11591147, PCSK9-R46L; P=1.94\times10-17). We discovered 4 independent PCSK9 SNPs explaining 4.4% of the variance of plasma PCSK9. In addition, we identified a genome-wide significant locus at chromosome 7p22.1 (rs6957201; P=7.01\times10-9) and 7 suggestive hits (P\textless1\times10-6). Using MR (Mendelian Randomization), we detected significant causal effects of circulating PCSK9 on coronary artery disease status and severity, carotid plaques, and intima-media thickness. CONCLUSIONS Variants at the PCSK9 gene locus seem to be the major genetic determinants of plasma PCSK9 levels with 4 independent variants at the PCSK9 gene locus expressing allelic heterogeneity. The detected MR estimates support the hypothesis of a causal effect of PCSK9 on coronary artery disease and other vascular phenotypes. Other observed genetic associations for PCSK9 require validation in independent cohorts. CLINICAL TRIAL REGISTRATION URL: http://www.clinicaltrials.gov. Unique Identifier: NCT00497887.

Authors: Janne Pott, Valentin Schlegel, Andrej Teren, Katrin Horn, Holger Kirsten, Christina Bluecher, Juergen Kratzsch, Markus Loeffler, Joachim Thiery, Ralph Burkhardt, Markus Scholz

Date Published: 1st May 2018

Publication Type: Journal article

Genome-wide meta-analysis identifies novel loci of plaque burden in carotid artery.
Genetical Statistics and Systems Biology

Abstract (Expand)

BACKGROUND AND AIMS: Carotid artery plaque is an established marker of subclinical atherosclerosis and common patho-mechanisms with coronary artery disease (CAD) are hypothesized. We aimed to identify … genetic variants associated with carotid plaque and to examine the potential shared genetic basis with CAD. METHODS: After investigating the reliability of plaque detection, we performed a genome-wide meta-association study in two independent cohorts (LIFE-Adult, n = 4037 and LIFE-Heart, n = 3152) for carotid plaque score (PS), defined as the sum of the plaque load of common carotid artery and carotid bulb. Further, we analyzed whether previously reported CAD and stroke loci were also associated with PS. RESULTS: We identified two loci with genome-wide significance for PS. One locus is the known CAD-locus at chromosome 9p21 (lead SNP rs9644862, p = 8.73 x 10(-12)). We also describe a novel locus on chromosome 10q24 within the SFXN2 gene as the most probable candidate (lead SNP rs2902548, p = 1.97 x 10(-8)). In addition, 17 out of 58 known CAD loci and six of 17 known stroke loci were associated with PS at a nominal level of significance. CONCLUSIONS: We showed that PS is a reliable trait to analyze genetics of atherosclerosis. Two new loci of genome-wide significant association with PS were found. The observed non-random overlap of CAD and PS associations strengthens the hypothesis of a shared genetic basis for these atherosclerotic manifestations.

Authors: J. Pott, R. Burkhardt, F. Beutner, K. Horn, A. Teren, H. Kirsten, L. M. Holdt, G. Schuler, D. Teupser, M. Loeffler, J. Thiery, M. Scholz

Date Published: 11th Mar 2017

Publication Type: Journal article

Human Diseases: atherosclerosis

Summary statistics for PCSK9
Genetical Statistics and Systems Biology

Summary statistics from GWAMA of PCSK9 levels. These data are intended for research purposes only, and available upon publication. For any enquiries about the datasets, please contact Janne Pott (janne.pott@imise.uni-leipzig.de) or Markus Scholz (markus.scholz@imise.uni-leipzig.de).

Citation: tba

When using this data acknowledge the source as follows: 'Data on PCSK9 has been downloaded from https://www.health-atlas.de/data_files/551'

We make three data sets available:

  1. Containing statistics ...

Creator: Janne Pott

Submitter: Janne Pott

Data file type: Not specified

Human Diseases: atherosclerosis

Summary statistics for stigmasterol (part 2)
LIFE Adult, Genetical Statistics and Systems Biology, LIFE Heart

Summary statistics from GWAMA of stigmasterol (stf_chf, free stigmasterol to free cholesterol; stt_cht, total stigmasterol to total cholesterol; stf_laf, free stigmasterol to free lanosterol; stt_laf, total stigmasterol to free lanosterol). These data are intended for research purposes only, and available upon publication. For any enquiries about the datasets, please contact Janne Pott (janne.pott@imise.uni-leipzig.de) or Markus Scholz (markus.scholz@imise.uni-leipzig.de).

Citation: tba

When ...

Creators: Katrin Horn, Markus Scholz, Janne Pott

Submitter: Janne Pott

Data file type: Other OMICs Data

Summary statistics for stigmasterol (part 1)
LIFE Adult, Genetical Statistics and Systems Biology, LIFE Heart

Summary statistics from GWAMA of stigmasterol (ste, esterified stigmasterol; stf, free stigmasterol; stt, total stigmasterol; stf_ste, free to esterified stigmasterol). These data are intended for research purposes only, and available upon publication. For any enquiries about the datasets, please contact Janne Pott (janne.pott@imise.uni-leipzig.de) or Markus Scholz (markus.scholz@imise.uni-leipzig.de).

Citation: tba

When using this data acknowledge the source as follows: 'Data on stigmasterol ...

Creators: Katrin Horn, Markus Scholz, Janne Pott

Submitter: Janne Pott

Data file type: Other OMICs Data

Summary statistics for sitosterol (part 2)
LIFE Adult, Genetical Statistics and Systems Biology, LIFE Heart

Summary statistics from GWAMA of sitosterol (sif_chf, free sitosterol to free cholesterol; sit_cht, total sitosterol to total cholesterol; sif_laf, free sitosterol to free lanosterol; sit_laf, total sitosterol to free lanosterol). These data are intended for research purposes only, and available upon publication. For any enquiries about the datasets, please contact Janne Pott (janne.pott@imise.uni-leipzig.de) or Markus Scholz (markus.scholz@imise.uni-leipzig.de).

Citation: tba

When using this ...

Creators: Katrin Horn, Markus Scholz, Janne Pott

Submitter: Janne Pott

Data file type: Other OMICs Data

Summary statistics for sitosterol (part 1)
LIFE Adult, Genetical Statistics and Systems Biology, LIFE Heart

Summary statistics from GWAMA of sitosterol (sie, esterified sitosterol; sif, free sitosterol; sit, total sitosterol; sif_sie, free to esterified sitosterol). These data are intended for research purposes only, and available upon publication. For any enquiries about the datasets, please contact Janne Pott (janne.pott@imise.uni-leipzig.de) or Markus Scholz (markus.scholz@imise.uni-leipzig.de).

Citation: tba

When using this data acknowledge the source as follows: 'Data on sitosterol has been ...

Creators: Katrin Horn, Markus Scholz, Janne Pott

Submitter: Janne Pott

Data file type: Other OMICs Data

Summary statistics for campesterol (part 2)
LIFE Adult, Genetical Statistics and Systems Biology, LIFE Heart

Summary statistics from GWAMA of campesterol (caf_chf, free campesterol to free cholesterol; cat_cht, total campesterol to total cholesterol; caf_laf, free campesterol to free lanosterol; cat_laf, total campesterol to free lanosterol). These data are intended for research purposes only, and available upon publication. For any enquiries about the datasets, please contact Janne Pott (janne.pott@imise.uni-leipzig.de) or Markus Scholz (markus.scholz@imise.uni-leipzig.de).

Citation: tba

When using ...

Creators: Katrin Horn, Markus Scholz, Janne Pott

Submitter: Janne Pott

Data file type: Other OMICs Data

Summary statistics for campesterol (part 1)
LIFE Adult, Genetical Statistics and Systems Biology, LIFE Heart

Summary statistics from GWAMA of campesterol (cae, esterified campesterol; caf, free campesterol; cat, total campesterol; caf_cae, free to esterified campesterol). These data are intended for research purposes only, and available upon publication. For any enquiries about the datasets, please contact Janne Pott (janne.pott@imise.uni-leipzig.de) or Markus Scholz (markus.scholz@imise.uni-leipzig.de).

Citation: tba

When using this data acknowledge the source as follows: 'Data on campesterol has been ...

Creators: Katrin Horn, Markus Scholz, Janne Pott

Submitter: Janne Pott

Data file type: Other OMICs Data

Summary statistics for brassicasterol (part 2)
LIFE Adult, Genetical Statistics and Systems Biology, LIFE Heart

Summary statistics from GWAMA of brassicasterol (brf_chf, free brassicasterol to free cholesterol; brt_cht, total brassicasterol to total cholesterol; brf_laf, free brassicasterol to free lanosterol; brt_laf, total brassicasterol to free lanosterol). These data are intended for research purposes only, and available upon publication. For any enquiries about the datasets, please contact Janne Pott (janne.pott@imise.uni-leipzig.de) or Markus Scholz (markus.scholz@imise.uni-leipzig.de).

Citation: ...

Creators: Katrin Horn, Markus Scholz, Janne Pott

Submitter: Janne Pott

Data file type: Other OMICs Data

Summary statistics for brassicasterol (part 1)
LIFE Adult, Genetical Statistics and Systems Biology, LIFE Heart

Summary statistics from GWAMA of brassicasterol (bre, esterified brassicasterol; brf, free brassicasterol; brt, total brassicasterol; brf_bre, free to esterified brassicasterol). These data are intended for research purposes only, and available upon publication. For any enquiries about the datasets, please contact Janne Pott (janne.pott@imise.uni-leipzig.de) or Markus Scholz (markus.scholz@imise.uni-leipzig.de).

Citation: tba

When using this data acknowledge the source as follows: 'Data on ...

Creators: Katrin Horn, Markus Scholz, Janne Pott

Submitter: Janne Pott

Data file type: Other OMICs Data

Summary Statistics for CPS_mean
Genetical Statistics and Systems Biology

Summary statistics from GWAS of CPS_mean for

  • all samples (adjusted for age and sex)
  • men only (adjusted for age)
  • women only (adjusted for age)

These data are intended for research purposes only.

Citation: Pott et al. (2020) Genome-wide analysis of carotid plaque burden suggests a role of IL5 in men. PLOS ONE. PubMed ID: 32469969

When using this data acknowledge the source as follows: 'Data on mean degree of stenosis has been contributed by LIFE-Adult investigators and has been downloaded ...

Creator: Janne Pott

Submitter: Janne Pott

Data file type: Not specified

Download
GWAS_SteroidHormones_SupData
LIFE Adult, LIFE Heart, Genetical Statistics and Systems Biology

Supplement Data for Publication including Supplement Material & Results (eQTL annotation, Mendelian Randomization (MR), further significant loci), Figures (correlation plot of steroid hormones, scatter plot of genetic effect sizes, regional association plots, scatter plots of MR) and Tables (Correlations, GWAS summary statistics, interaction tests, MR results)

Creator: Janne Pott

Submitter: René Hänsel

Download

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