Whole Genome Sequencing Analysis Identifies 90 Rare Variants in the Human Blood Metabolome – Bioscience Technology

In the largest whole genome sequencing and analysis of blood metabolites, researchers found that rare variants associated with abnormal blood metabolite profiles are higher in the adult population than previously thought and could be key factors in health.

The study, led by genomic-based health intelligence company Human Longevity Inc., discovered 101 new sites in the genome associated to 246 metabolites and identified 90 rare variants connected to abnormal blood levels of certain metabolites.

Researchers, led by first author Tao Long, Ph.D., from Sanford Burnham Prebys Medical Discovery Institute, and HLI Chief Scientific Officer Amalio Telenti, M.D., Ph.D., performed whole genome analysis and metabolite profiling on 1,960 adults, including twin pairs, who were observed at three clinical visits over 18 years. The analysis focused on 644 particular blood metabolites.

Blood metabolites were measured using ultra-high-performance liquid chromatography tandem mass spectrometry technology.

The analysis revealed that 10 percent of the 1,054 non-related participants carried heterozygous rare variants that affect function of 17 genes. Thirteen of these genes are linked to inborn metabolic errors and other genetic disorders.

The collection of small molecules and chemicals in blood called the metabolome reflect the intimate workings of our body, Telenti said in a prepared statement. It was very surprising to us that so many adults would display abnormalities in blood metabolites, and that a high proportion would be the result of genetic defects. We believe the metabolome should be a continued area of research, and our findings today highlight the importance of looking holistically at the body and all the components that factor into our health and potential for disease.

Along with HLI, metabolomics company Metabolon and researchers from the Twins UK study collaborated on this work.

The findings were published March 6 in Nature Genetics.

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Whole Genome Sequencing Analysis Identifies 90 Rare Variants in the Human Blood Metabolome - Bioscience Technology