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10 new genes that tune cholesterol levels discovered in large-scale meta-analysis

Date:
May 11, 2015
Source:
University of Helsinki
Summary:
An international research consortium has generated significant new knowledge about genetic factors underlying lipid levels. The team was able to discover ten new genes affecting blood cholesterol levels. Nearly 200 genetic variants are now known to have an effect on blood cholesterol. Together they explain nearly one-fifth of differences between individuals.
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An international research consortium has generated significant new knowledge about genetic factors underlying lipid levels. The team was able to discover ten new genes affecting blood cholesterol levels. Nearly 200 genetic variants are now known to have an effect on blood cholesterol. Together they explain nearly one-fifth of differences between individuals.

An international research consortium has discovered ten new genes underlying blood lipid levels. This large study, published Nature Genetics, was led by researchers at the Institute for Molecular Medicine Finland and Medical Faculty, University of Helsinki. In this study the DNA of more than 60,000 individuals was examined to discover genetic variants associated with cholesterol levels.

In addition to identifying novel risk genes, the researchers were able to pinpoint new genetic risk variants having the most significant effect on cholesterol for most of the already known genomic susceptibility areas. Many of these new risk variants were shown to have a manifold effect on blood cholesterol compared to the previously identified variants.

To identify different types of associated loci, genome-wide genetic information consisting of nearly 10 million variants and blood lipid level data from 22 European cohorts was combined. The study beautifully demonstrates the benefits of international collaboration and sharing the data.

"In the earlier genome-wide studies the genome information available has been less dense and the studies have concentrated on variants that at least one in twenty people have. By analyzing large numbers of samples and utilizing sophisticated statistical methods we were able to concentrate on variants that are much rarer in the population," explains Dr. Ida Surakka, the first author of the study.

The results demonstrated the many faces of the genomic variants impacting on cholesterol metabolism. Among the thus far identified risk variants are both rare familial mutations causing severe hypercholesterolemia and variants that are very common amongst the people with European origin.

Professor Samuli Ripatti from the University of Helsinki, the principal investigator behind this study comments: "These genetic findings provide information about the personal, lifelong exposure to cholesterol and thus about the risk of developing a cardiovascular disease. Identifying the high-risk individuals already in childhood would allow them to lower their risks by changing life style and through medication already early in their life and thus prevent the disease later.

A significant proportion of the variation in cholesterol levels is due to genetic factors. When combining all the genetic information available nearly fifth of the variation in cholesterol levels can now be explained.


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Materials provided by University of Helsinki. Note: Content may be edited for style and length.


Journal Reference:

  1. Ida Surakka, Momoko Horikoshi, Reedik Mägi, Antti-Pekka Sarin, Anubha Mahajan, Vasiliki Lagou, Letizia Marullo, Teresa Ferreira, Benjamin Miraglio, Sanna Timonen, Johannes Kettunen, Matti Pirinen, Juha Karjalainen, Gudmar Thorleifsson, Sara Hägg, Jouke-Jan Hottenga, Aaron Isaacs, Claes Ladenvall, Marian Beekman, Tõnu Esko, Janina S Ried, Christopher P Nelson, Christina Willenborg, Stefan Gustafsson, Harm-Jan Westra, Matthew Blades, Anton J M de Craen, Eco J de Geus, Joris Deelen, Harald Grallert, Anders Hamsten, Aki S Havulinna, Christian Hengstenberg, Jeanine J Houwing-Duistermaat, Elina Hyppönen, Lennart C Karssen, Terho Lehtimäki, Valeriya Lyssenko, Patrik K E Magnusson, Evelin Mihailov, Martina Müller-Nurasyid, John-Patrick Mpindi, Nancy L Pedersen, Brenda W J H Penninx, Markus Perola, Tune H Pers, Annette Peters, Johan Rung, Johannes H Smit, Valgerdur Steinthorsdottir, Martin D Tobin, Natalia Tsernikova, Elisabeth M van Leeuwen, Jorma S Viikari, Sara M Willems, Gonneke Willemsen, Heribert Schunkert, Jeanette Erdmann, Nilesh J Samani, Jaakko Kaprio, Lars Lind, Christian Gieger, Andres Metspalu, P Eline Slagboom, Leif Groop, Cornelia M van Duijn, Johan G Eriksson, Antti Jula, Veikko Salomaa, Dorret I Boomsma, Christine Power, Olli T Raitakari, Erik Ingelsson, Marjo-Riitta Järvelin, Unnur Thorsteinsdottir, Lude Franke, Elina Ikonen, Olli Kallioniemi, Vilja Pietiäinen, Cecilia M Lindgren, Kari Stefansson, Aarno Palotie, Mark I McCarthy, Andrew P Morris, Inga Prokopenko, Samuli Ripatti. The impact of low-frequency and rare variants on lipid levels. Nature Genetics, 2015; DOI: 10.1038/ng.3300

Cite This Page:

University of Helsinki. "10 new genes that tune cholesterol levels discovered in large-scale meta-analysis." ScienceDaily. ScienceDaily, 11 May 2015. <www.sciencedaily.com/releases/2015/05/150511125207.htm>.
University of Helsinki. (2015, May 11). 10 new genes that tune cholesterol levels discovered in large-scale meta-analysis. ScienceDaily. Retrieved May 25, 2017 from www.sciencedaily.com/releases/2015/05/150511125207.htm
University of Helsinki. "10 new genes that tune cholesterol levels discovered in large-scale meta-analysis." ScienceDaily. www.sciencedaily.com/releases/2015/05/150511125207.htm (accessed May 25, 2017).

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