SEP 28, 2016 2:29 PM PDT

17 Rare Gene Mutations Linked to Heart Disease & Diabetes

WRITTEN BY: Kara Marker
The environmental and genetic factors surrounding the combined risk of cardiovascular disease is a complicated puzzle of connections, but scientists from the Wellcome Trust Sanger Institute have managed to put a few of the genetic pieces together. 
Using novel genetic analysis tools, a team of researchers studied the genomes of nearly 36,000 people of European ancestry, scanning for links to known risk factors, such as high blood cholesterol, for cardiovascular diseases. “We focused on cardiometabolic traits but the panel covers the entire human genome so it could be used to glean a deeper understanding of genetic contributions to disease in any part of the human body,” explained joint senior author Paul Auer.

Auer is talking about the dense imputation panel the researchers created to fill in gaps of missing data from lower resolution genetic studies so scientists could accurately identify specific disease factors. They used genomic sequences from two past studies, the UK10K project and the 1000 Genome Project. Thanks to the panel, researchers were able to identify genetic variants that would not have been discovered without it, and they made up 16 out of 17 of the total variants identified. 

"The dense imputation panel used in this study allowed us to search for genetic variations that are much less frequent than ever before, but that individually explain a greater genetic risk,” said joint senior author Nicole Soranzo.

Soranzo and Auer applied another analytical technique called fine-mapping before they eventually identified the 17 genetic variations. They started with hundreds of regions of the human genome and 17 million sequence variants that could contain genetic risk factors for cardiometabolic disease and hematological traits. The fine-mapping technique helped them narrow down their search to 59 regions and, finally, 17 rare human gene variants.

"This is the first stage of a discovery process that is going to tell us more about the contribution genetics makes to complex human diseases,” said first author Valentina Iotchkova. It’s not just cardiovascular disease risk factors that this process of genome sequencing can uncover. In fact, there’s a good chance that redoing these studies in the future could reveal much more about what causes human disease.

The recent study was published in the journal Nature Genetics

Source: Wellcome Trust Sanger Institute
About the Author
Master's (MA/MS/Other)
I am a scientific journalist and enthusiast, especially in the realm of biomedicine. I am passionate about conveying the truth in scientific phenomena and subsequently improving health and public awareness. Sometimes scientific research needs a translator to effectively communicate the scientific jargon present in significant findings. I plan to be that translating communicator, and I hope to decrease the spread of misrepresented scientific phenomena! Check out my science blog:
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