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Time and again, an association between a gene and a disease was reported, but when other researchers looked for the same effect, they could not reproduce the result. “About 10 years ago, geneticists got very nervous about these kinds of studies,” says Professor Cardon. “They were afraid that differences in population structure were leading to the irreproducible results – and there are examples where population structure is known to have caused problems. But it was not only lack of attention to broad ethnic differences, but small samples that led to the confusion. We now know that if we are to find the genes that have small effects on common diseases, such as heart disease, diabetes, and osteoporosis, we need to study large numbers of people and we need to know, at a fine level, the genetic structure of that sample of people.”

Searching for structure

The last 50–100 years have seen remarkable flux in the UK population. The Oxford team is therefore looking for volunteers who come from rural areas, and whose parents and grandparents were from the same area.

The goal is to gather DNA from 3500 people, from 30 locations in the UK. “We have collaborators throughout the country: Scotland, Newcastle and Cumbria, Leeds, London, Wales, Northern Ireland and so on,” says Professor Bodmer. “They are absolutely key: they make it possible for the project to happen, as they know their own area.”

To understand the range of differences between different parts of the population, each participant’s DNA will be tested for 2000 single nucleotide polymorphisms (SNPs). The data and the DNA samples will become a national resource for other researchers to use. Researchers will be able to use the samples and the data on their genetic marker distribution to match their disease samples to appropriate controls and so reduce the chance of finding spurious associations.

With a number of very large population studies, such as the UK Biobank, getting underway, a knowledge of the UK’s genetic structure will be particularly timely. Although the team expect there to be extensive interest in the historical insights that the project is likely to bring, they are firmly focused on the scientific benefits: “If we are to use population studies effectively to find genes involved in disease,” says Professor Cardon, “this is information we just have to have.”


Box 1: Invading genes

The genetic history of the British Isles is intertwined with that of mainland Europe and Scandinavia. For modern-day geneticists, teasing apart the legacies of migrations and invasions is a tricky task, as different peoples tended to intermarry. While relatively few Romans settled on the islands, many other peoples came and stayed, eventually merging with the original occupants.

Some insights have popped up from studies of single genes. Variations in the pigmentation gene MC1R, for example, that cause red hair and fair skin are commonest in the UK’s ‘Celtic fringe’.

Perhaps the best two sources of historical genetic information are the Y chromosome, which is passed on by fathers, and mitochondrial DNA, which is passed on by mothers. Patterns of variations (haplotypes) form signatures that can be traced back through many generations

“The Orkney isles, for example, were controlled by the Vikings until the 13th century,” says Professor Bodmer. “The original populations probably represent a relic of the so-called Celtic population of the British isles which was there before agriculture arrived there from the middle east about 5000 to 6000 years ago, and so well before the Viking invasions that came in 700–800 AD from North Denmark and Norway.”

“There is a particular Y type that is relatively common in both Orkney and Scandinavian, as well as northern Russian males, though not in most of the rest of the UK, but the mitochondrial DNA of the Orkneys appears to be very similar to the rest of the UK population. So the evidence suggests that the influx was male – the raiders on the boats settled and married the Orkney women who were there already.”

The relative distributions of certain diseases may also be influenced by history. “Multiple sclerosis is relatively common in Orkney, and the common cystic fibrosis mutation is much more frequent in northern areas of the UK than elsewhere in Europe,” points out Professor Bodmer. “There may be many disease-related gene variants that show gradients in frequency across the country. But there’s a huge amount that’s yet to be understood.”


By Dr Giles Newton, Science Editor, the Wellcome Trust This article first appeared in Wellcome News 40, November 2004.

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