Scientists discover genetic mechanism that may affect risk of obesity-related disease

The IIEG was involved in one of the largest epigenome-wide association studies (EWAS) of its kind, in which we have identified a new genetic mechanism that may play a role in mediating some of the harmful effects of becoming overweight, such as diabetes.

In this study, published in The Lancet, Samani and colleagues looked at epigenetic changes in DNA in relation to body mass index (BMI), a widely used measure of obesity. One particular type of epigenetic change, a process known as DNA methylation, was examined. DNA methylation involves specific locations along the DNA called cytosine bases being modified through the addition of methyl chemical groups.

We used microarray technology to measure methylation levels at over 351 000 sites across the genome using whole blood DNA samples taken from 459 individuals of European origin, and identified five sites where the level of methylation correlated with BMI.

We found that for every 10% increase in methylation at the most significant site—cg22891070—BMI increased by 3·6%, equating to about 0·98 kg/m2 for a person in the original cohort with an average BMI of 27 kg/m2. In comparison, the obesity risk gene, FTO, accounts for a more modest 0.39kg/ m2 increase in BMI.

However, further studies are needed to understand how and when obesity affects methylation at HIF3A and what the consequences are, but the findings could eventually lead to new treatments that may tackle the adverse effects of obesity on health.

At a more general level, our study shows that investigating epigenetic changes in DNA may reveal new mechanisms involved in common diseases.

SYSinflame and e:AtheroSysMed kicked-off

Two projects applying system medicine approaches to unravel the pathogenesis of atherosclerosis and inflammatory diseases started in 2014 with funding by the BMBF.
The IIEG is co-leading e:AtheroSysMed together with Prof. Schunkert (DHM) and is partner in SYSinflame aiming to understand the shared genetic basis of psoriasis and atherosclerosis.


First Master thesis defended at the IIEG

Congratulations! Mariana defended very sucessfully her master thesis about „Prevalence of familial hypercholesterolemia variants in the exome data of myocardial infarction patients“. She is the first master student officially affiliated with the IIEG! And she will now start her PhD at the IIEG!

Large proportion of FH patients escape the diagnosis, even when they have premature MI

Familial hypercholesterolemia (FH) is an oligogenic disorder characterized by markedly elevated low-density lipoprotein cholesterol (LDLC) levels.
As FH increases the risk for coronary artery disease (CAD) and myocardial infarction (MI), it might be specifically overlooked in the large number of such patients.
Here, Ingrid Brænne et al. systematically examined the frequency of potential FH-causing variants by exome sequencing in 255 German patients with premature MI and a positive family history for CAD. Our data reveal that a large proportion of FH patients indeed escape the diagnosis, even when they have premature MI.
Hence, systematic molecular-genetic screening for FH in such patients may reveal a substantial number of cases and thereby allow a timely LDLC-lowering in both FH/MI patients as well as their variant carrying family members.
In conclusion, our work demonstrates that exome sequencing can be used for FH-variant screening.
As the sequencing costs have decreased dramatically, exome sequencing might become the method of choice for molecular genetic screening of, for instance, FH.

Further information:

Successful kick-off meeting of e:AtheroSysMed

The BMBF funded consortium e:AtheroSysMed has met for two days in Aying nearby Munich to kick-off the project.
The consortium brings together major national and international resources and scientists from a wide spectrum of disciplines (e.g. clinicians, geneticists, epidemiologists, systems biologists, bioinformaticians, mathematicians). 30 participants – from senior scientists to PhD students – discussed project ideas and work plans for the next three years. Besides discussing science this meeting was also meant to get to know each other better.
The goal of the consortium is to better understand the genetics of atherosclerosis and stroke by identifying and investigating functional pathways.

Clinical Research Unit 303 „Pemphigoid Diseases“ gets funded

Today the DFG informed us that the Clinical Research Unit 303 „Pemphigoid Diseases“ gets funded for at least three years with an option for three additional years. This CRC will be coordinated by Detlef Zillikens and Christian Sadik from the Dermatology department. The IIEG is, together with Inke König,  involved in a Z-project – Biostatistics and Systems Medicine Core Unit.

Pemphigoid diseases (PD) are a group of subepidermal autoimmune blistering skin diseases. The epidemiology and pathogenesis of PD is not entirely clear. This CRC aims to unravel the pathomechanism of this threatening disease.

Jeanette Erdmann is appointed as Associate Editor of Cardiovascular Genetics (specialty section of Frontiers in Cardiovascular Medicine)

Jeanette Erdmann is now part of the Frontiers Community as an Associate Editor of Cardiovascular Genetics (specialty section of Frontiers in Cardiovascular Medicine) a very new, global and peer-reviewed Open Access medical journal providing unrestricted, online access to publications on diagnostic and therapeutic advances in cardiology and cardiovascular disease.

The specialty section Cardiovascular Genetics is devoted to studies enhancing our understanding of the genetic and epigenetic causes of cardiovascular diseases in order to better understand disease development and progression.

With this aim the journal fits extremely well to the IIEG and its members.


Integrative genomics reveals novel molecular pathways and gene networks for coronary artery disease

Based on extensive genotypic data from CARDIoGRAM we started a large-scale integrative genomic analyses together with colleagues from USA, Australia, Canada, UK, Singapore, and Germany.

More precisely, we conducted an analysis where we used the information of gene-gene interactions to capture groups of genes that are most likely to increase heart disease risk. In the end, we not only confirmed the importance of several known CAD risk processes such as the metabolism and transport of cholesterol, immune response, and blood coagulation, but also revealed many novel processes such as neuroprotection, cell cycle, and proteolysis that were not previously implicated in CAD. These results published in PLOS Genetics highlight the value of integrating population genetic data with diverse resources that functionally annotate the human genome.


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