There is a new paper in Science linking genetic variation in people living in Greenland with long term selection for managing a marine-oriented diet, affecting stature, weight, and probably, physiological processing of omega-3 polyunsaturated fatty acids (PUFAs).

The vast majority of the variation we seen in stature (height) among humans is not genetic. That is a fact hard to swallow by so many of us who were told in biology class that “height is a complex genetic trait with many genes affecting it.” It also seems wrong because the classic examples of variation in stature, the Pygmies of Central Africa (short) and the Maasai of East Africa (tall) are assumed to be populations under selection that caused them to be outliers. Of course, the Maasai are really not that tall by modern Western standards, but the story about them being tall, first told by relatively short European travelers who met them in the 19th century, persists, despite the fact that those travelers’ offspring, such as Modern Americans and Brits, are in many cases significantly taller than their own ancestors without natural selection being the cause.

But there are some genetic factors that control height and weight and account for some percentage of variation in those phenotypes. Pygmies taken from their homeland and raised among people with unlimited food supply do not grow tall. They may become obese, but not tall, because one of the main genes that regulates growth in almost all humans simply does not function in Pygmies. (One individual Efe Pygmy I’ve met who was raised among Italian nuns, in Italy, was short but rather wide.) There may be other short statured populations with a similar genetically determined stature. But as far as we can tell, something like 20% (and that is probably an overestimate) of variation in stature in living humans over the last century or so can be accounted for by genetic variation. The rest is a combination of diet and, I suspect, an epigenetic effect linked to maternal size and diet. When a population of relatively short people get unlimited food the next generation is taller. But then, the next generation is taller still. It is as though mothers won’t give birth to maximally sized offspring, just somewhat larger offspring, who then give birth to somewhat larger offspring, so the part of the demographic transition where everyone gets taller happens over a few generations. This is a well documented but not very well explained phenomenon, and the explanation I suggest here is merely a hypothesis.

A new study in Science looks at the Inuit people, and some Europeans living in the same place they live, in this case Greenland, and finds a genetic component to Inuit stature and weight. There are also other differences having to do with processing elements of their relatively unusual diet.

The key result with respect to weight and height is shown in the graph at the top of the post. The letters (GG, GT, TT) are the alleles (T is the derived allele). Homozygotes for the derived allele are quite a bit less massive, and a small amount shorter, than those without the allele, and heterozygotes are in between.

Here is the abstract from the paper:

The indigenous people of Greenland, the Inuit, have lived for a long time in the extreme conditions of the Arctic, including low annual temperatures, and with a specialized diet rich in protein and fatty acids, particularly omega-3 polyunsaturated fatty acids (PUFAs). A scan of Inuit genomes for signatures of adaptation revealed signals at several loci, with the strongest signal located in a cluster of fatty acid desaturases that determine PUFA levels. The selected alleles are associated with multiple metabolic and anthropometric phenotypes and have large effect sizes for weight and height, with the effect on height replicated in Europeans. By analyzing membrane lipids, we found that the selected alleles modulate fatty acid composition, which may affect the regulation of growth hormones. Thus, the Inuit have genetic and physiological adaptations to a diet rich in PUFAs.

How long have the Inuit been living this lifeway, in this environment? Actually, not that long. The researchers, in their supplemental information, suggest that it could be as long as 30,000 years, but this is unlikely, or at least, the story is more complicated.

There are several complications to understanding the history of the selective environment of the Inuit, the environment that would have shaped this genetic adaptation. First, the environment has changed. Not only have we gone from an ice age to no ice age during this 30,000 year time period, but with sea level rise during the Holocene, the ecology of the arctic has changed considerably. Large areas of the continent have been inundated by the sea. Prior to that, most of the ocean adjoining land was immediately deep. With the inundation of the continent, vast relatively shallow areas of ocean would exist. Nutrients well up along the continental shelf, but shallow areas are also potentially nutrient rich because of sediments coming off shore. During glacial melt periods, there may have been frequent large scale fresh water incursions which would have had occasional disastrous effects on the local ecology. The position of estuarine settings, which can be very productive, would change. As sea level rise slowed, near shore sediments may have had a chance to build up, causing regional increases in productivity.

The migratory patterns, overall distribution, and abundance of marine mammals and common shoaling fish would have changed dramatically, and multiple times, during the last several thousand years. It would not have been until about five thousand years ago that things would have settled down allowing long term regional foraging adaptations to emerge. Prior to that there may have been periods when the marine environment was significantly more, or significantly less, productive.

Meanwhile, the ancestors of the Inuit themselves moved a great deal during this period. They were not in Greenland, or anywhere in North America, 30,000 years ago, but rather, in an unknown location in Asia. The Inuit ancestors were part of a later migration into the New World. The association (population wise) of true Arctic people and others living farther south is not known.

A second factor is cultural adaptation. When we look at the traditional Inuit foraging patterns and associated technology, together with the preceding prehistoric Thule adaptations, we can’t help but to be impressed with the highly specialized effective approaches, both strategically and technologically, to acquiring marine resources. Boats, lamps, harpoons, and processing tools are highly refined and efficient. That material culture and strategic approach, however, is only a few thousand years old. Before that, in the region, were the Dorset, who simply lacked many of these tools. It is possible that the Thule and Inuit had sled and sled dogs, but earlier people in the Arctic did not. And so on. The ancestors of the Inuit, just a few thousand years ago, could not have had as specialized a diet as the traditional (modern ethnohistoric) Inuit. Cultural adaptations changing over time is as important as, if not more important than, the afore mentioned likely changes in environment.

So, I’m not going to argue that these adaptations are not 30,000 years in the making. Rather, I’ll argue that strong selection for these alleles could be as recent a few thousand years or even less, and that prior selective environments (the combination of the natural environment and human cultural adaptations to it) may have different and the situation may have been rather complicated for many years. In other words, the new, and very interesting, results looking at the Inuit genome need to be integrated with a better understanding of Inuit history, which is probably going to require a lot more research in the region.

There is a second point I want to make about this paper. We see research suggesting a genetic explanation for a lot of things, but often, in the past, that has involved finding a correlation between this or that genetic variation and a presumed phenotypic feature. Often, the next key step to establish the link isn’t, perhaps sometimes can’t be, taken. This is the link between the observed genetic variation and a good physiological story. The present research finds genetic variation associated with physiological features that seem to be associated with a marine-oriented diet in an Arctic or Sub Arctic setting. That makes this research really valuable.

Greenlandic Inuit show genetic signatures of diet and climate adaptation
Matteo Fumagalli, Ida Moltke, Niels Grarup, Fernando Racimo, Peter Bjerregaard, Marit E. Jørgensen, Thorfinn S. Korneliussen, Pascale Gerbault, Line Skotte, Allan Linneberg, Cramer Christensen, Ivan Brandslund, Torben Jørgensen, Emilia Huerta-Sánchez, Erik B. Schmidt, Oluf Pedersen, Torben Hansen, Anders Albrechtsen, and Rasmus Nielsen
Science 18 September 2015: 349 (6254), 1343-1347. [DOI:10.1126/science.aab2319]