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Genome studies: Genetics by numbers

Nature volume 451, pages 516–518 (2008)Cite this article

Genomewide association studies are starting to turn up increasingly reliable disease markers. Monya Baker investigates where we are now and what comes next.

Who would have thought that the future of human health would read like a list of car number plates? Last year, a suite of studies1, 2, 3 pinned an increased likelihood of developing heart disease on some mysterious culprits: seemingly incomprehensible strings of numbers such as rs10757274 and rs1333040. The number sequences, technically known as single nucleotide polymorphisms or SNPs, are located close to one another on chromosome 9. No one knows what they do, if anything. But carrying two copies of any of them boosts a person's chance of developing heart disease by the same amount as smoking ten cigarettes a day. The effect is less than that brought on by diabetes or heavier smoking, but it is still one of the strongest risks so far identified by genomewide association studies, which attempt to find genetic variants that occur more frequently in one group of people than another.

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Authors
  1. Monya Baker
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Monya Baker is the editor of Nature Reports Stem Cells and writes for Nature from San Francisco.

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Wellcome Trust Case Control Consortium

Database of Genotype and Phenotype (dbGaP)

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Baker, M. Genome studies: Genetics by numbers. Nature 451, 516–518 (2008). https://doi.org/10.1038/451516a

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