
Diabetes Gene Common In Latinos Has Ancient Roots - rosser
http://www.npr.org/blogs/health/2013/12/25/256832685/diabetes-gene-common-in-latinos-has-ancient-roots
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tokenadult
I read through the submitted article here to find the link to the scientific
journal article[1] that has just come out from this research group. The
abstract tells the basic story:

"Performing genetic studies in multiple human populations can identify disease
risk alleles that are common in one population but rare in others1, with the
potential to illuminate pathophysiology, health disparities, and the
population genetic origins of disease alleles. Here we analysed 9.2 million
single nucleotide polymorphisms (SNPs) in each of 8,214 Mexicans and other
Latin Americans: 3,848 with type 2 diabetes and 4,366 non-diabetic controls.
In addition to replicating previous findings2, 3, 4, we identified a novel
locus associated with type 2 diabetes at genome-wide significance spanning the
solute carriers SLC16A11 and SLC16A13 (P = 3.9 × 10−13; odds ratio (OR) =
1.29). The association was stronger in younger, leaner people with type 2
diabetes, and replicated in independent samples (P = 1.1 × 10−4; OR = 1.20).
The risk haplotype carries four amino acid substitutions, all in SLC16A11; it
is present at ~50% frequency in Native American samples and ~10% in east
Asian, but is rare in European and African samples. Analysis of an archaic
genome sequence indicated that the risk haplotype introgressed into modern
humans via admixture with Neanderthals. The SLC16A11 messenger RNA is
expressed in liver, and V5-tagged SLC16A11 protein localizes to the
endoplasmic reticulum. Expression of SLC16A11 in heterologous cells alters
lipid metabolism, most notably causing an increase in intracellular
triacylglycerol levels. Despite type 2 diabetes having been well studied by
genome-wide association studies in other populations, analysis in Mexican and
Latin American individuals identified SLC16A11 as a novel candidate gene for
type 2 diabetes with a possible role in triacylglycerol metabolism."

The most novel and startling part of the factual claims in the abstract, and
definitely the part that I am most dubious about, is "the risk haplotype
introgressed into modern humans via admixture with Neanderthals." Well, maybe,
but maybe not. There have been very few samples of ancient hominid DNA so far,
so we are still not sure what range of variation was found among ancestors of
today's _Homo sapiens_ species to which we all belong.

[1]
[http://www.nature.com/nature/journal/vaop/ncurrent/full/natu...](http://www.nature.com/nature/journal/vaop/ncurrent/full/nature12828.html)

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csense
Since the "Latino" category encompasses people of European, African, and
Native American ancestry [1] [2], I was thinking the headline/article would be
more informative if it stated which of these ancestral populations had the
gene (assuming that question could be answered from the research methodology
used).

Your comment answers my question; the gene occurs at highest frequency in
Native American samples.

[1]
[http://en.wikipedia.org/wiki/Latino#Terminology](http://en.wikipedia.org/wiki/Latino#Terminology)

[2]
[http://en.wikipedia.org/wiki/Latin_Americans#Demographics](http://en.wikipedia.org/wiki/Latin_Americans#Demographics)

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DonGateley
Does this imply that Neanderthals skedaddled to the Americas?

There was equal mention of Neanderthals and native Americans in the article
but they seem to have avoided making the connection explicit.

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gonnakillme
No. It's disputed, but Neanderthals almost definitely died out before the
human migration to North America.

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kimonos
Very interesting! Thanks for sharing!

