Study identifies genetic variants giving rise to differences in metabolism

Nov 28, 2008

Common genetic polymorphisms induce major differentiations in the metabolic make-up of the human population, according to a paper published November 28 in the open-access journal PLoS Genetics. An international team of researchers, led by Karsten Suhre, has conducted a genome-wide association study with metabolomics, identifying genetic variants in genes involved in the breakdown of fats. The resulting differences in metabolic capacity can affect individuals' susceptibility to complex diseases such as diabetes and hyperactivity.

In the rapidly evolving field of metabolomics, scientists aim to measure all endogenous metabolites in a cell or body fluid. These measurements provide a functional readout of the physiological state of the human body. Investigation into these so-called "genetically determined metabotypes" in their biochemical context may help determine the pathogenesis of common diseases and gene-environment interactions.

The team identified four single nucleotide polymorphisms (SNPs) located in genes coding for well-characterized enzymes of the lipid metabolism. Individuals with different genotypes in these genes have significantly different metabolic capacities with respect to the synthesis of some polyunsaturated fatty acids, the beta-oxidation of short- and medium-chain fatty acids and the breakdown of triglycerides. By simultaneous measurements of both SNPs and serum concentrations of endogenous metabolites, the researchers determined the metabolome of several hundred healthy individuals and compared it to their genetic inheritance.

The results suggest that most individuals carry one or more risk alleles in their genetic inheritance that may determine a certain medical phenotype, the response to a given drug treatment, or the reaction to a nutritional intervention or environmental challenge. These findings may lead to more targeted approaches to health care based on a combination of genotyping and metabolic characterization. To achieve this goal, it will be necessary to identify the major genetically determined metabotypes and their association to complex diseases.

Citation: Gieger C, Geistlinger L, Altmaier E, Hrabe´ de Angelis M, Kronenberg F, et al. (2008) Genetics Meets Metabolomics: A Genome-Wide Association Study of Metabolite Profiles in Human Serum. PLoS Genet 4(11): e1000282. doi:10.1371/journal.pgen.1000282
dx.plos.org/10.1371/journal.pgen.1000282

Source: Public Library of Science

Explore further: Innovative 'genotype first' approach uncovers protective factor for heart disease

add to favorites email to friend print save as pdf

Related Stories

Recommended for you

Study clarifies parents as source of new disease mutations

21 hours ago

Scientists have long speculated that mosaicism – a biological phenomenon, in which cells within the same person have a different genetic makeup – plays a bigger role in the transmission of rare disease mutations than ...

How black truffles deal with the jumpers in their genome

Jul 31, 2014

The black truffle uses reversible epigenetic processes to regulate its genes, and adapt to changes in its surroundings. The 'methylome' - a picture of the genome regulation taking place in the truffle, is published in the ...

Gene research targets scarring process

Jul 28, 2014

Scientists have identified three genes that may be the key to preventing scar formation after burn injury, and even healing existing scars.

User comments : 0