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RESEARCH HIGHLIGHTS

Nature Reviews Genetics | AOP, published online 9 October 2012; doi:10.1038/nrg3347

DISEASE GENOMICS pathogenic bacteria. In terms of


specific functions, T2D metagenomes

Associations go metagenome-wide are enriched for genes involved in


sulphate reduction and response to
oxidative stress.
Alterations in the human microbiome and 74 controls), and the resulting The authors also explored whether
are increasingly being linked to metagenomic information was used to the associations could provide
diseases, but new methods are needed update the existing reference. Next, biomarkers for T2D. They identified
to probe these links more quickly and in the authors carried out a two-stage a set of 50 genes that provided the
more detail. The publication of the first MGWA study. First, they quantified gut best discrimination between cases
metagenome-wide association (MGWA) microbial genes from the same 145 cases and controls and tested whether this
study which identifies changes in and controls and identified genes that set could distinguish affected and
the microbial composition of the gut are significantly enriched in individuals unaffected individuals in another
that are associated with type 2 diabetes with T2D. These associations were then group. The results were promising,
this approach (T2D) is an important step towards validated in a second analysis using providing better specificity than
these goals. another 200 Chinese individuals, giving a human genetic markers.
promises a Jun Wang and colleagues developed set of 52,484 reliable gene associations. With other MGWA studies underway,
host of new an approach that is analogous to the By analysing the functional and this approach promises a host of
insights into genome-wide association study design: taxonomic groupings of the associated new insights into microbial functions
they compared the composition of the genes, the authors were able to explore that are perturbed for a number of
microbial gut metagenome between Chinese perturbations of the gut microbiome in important human diseases and will
functions that individuals with T2D and an unaffected T2D. Overall, the T2D microbiome potentially allow the development
are perturbed control group. The first step was to showed a mild but significant degree of improved tools for identifying and
develop a suitable reference gut of dysbiosis: that is, a disruption of the monitoring disease states.
for a number metagenome, as the existing reference normal balance of the microbiota. Wang Louisa Flintoft
of important did not include data from the Chinese and colleagues particularly note a lower ORIGINAL RESEARCH PAPER Qin, J. et al.
human population. Whole-genome sequencing abundance of butyrate-producing A metagenome-wide association study of gut
was carried out on faecal samples bacteria in T2D microbiomes and an microbiota in type 2 diabetes. Nature 26 Sep
diseases from 145 Chinese individuals (71 cases increase in opportunistic species of 2012 (doi:10.1038/nature11450)

NPG

NATURE REVIEWS | GENETICS VOLUME 13 | NOVEMBER 2012

2012 Macmillan Publishers Limited. All rights reserved

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