Genomes of Icelanders
DNA analysis of Icelanders revealed previously unknown genetic variants
The information obtained allowed scientists to evaluate certain sections of the genomes of another 100 thousand inhabitants of Iceland, that is, almost a third of the entire population of the country. While some diseases, such as cystic fibrosis, are caused by a single genetic mutation, most of the most common diseases, such as heart failure or breast cancer, are predetermined by many genes. The identification of these "pathogenic" variants can shed light on the nature of the disease and on the path of treatment. But many of the mutations are rare, and large groups of people need to be examined to detect them, which was done in a new Icelandic study. In particular, eight people with the same MYL4 mutation were found. The medical records of these people indicate an early onset of atrial fibrillation.
According to the New York Times expert Gilian McVean, a geneticist from the University of Oxford, "the discovery of rare associations (meaning the association of a genetic variant with a disease) is in some way a 'grail cup' for geneticists." Another rare mutation identified in the deCODE study has to do with thyroid hormone levels. Icelanders inheriting this mutation on the maternal side are distinguished by an increased level of one of the thyroid hormones, whereas when inherited from the father, it is reduced. Mcveen's Oxford colleague Luke Jostins calls this discovery "super-strange" and is eager to meet something similar in some other population.
Among the genetic rarities discovered by the authors, there is also a mutation that increases the risk of cholelithiasis and a new genetic risk factor for Alzheimer's disease, in the latter case, a specific mutation in the previously assumed site is described.
Iceland is a fertile country for genetic research. It was founded by a small number of settlers – from eight thousand to 20 thousand people who arrived from Scandinavia, Ireland and Scotland 1100 years ago. For the next millennium, they lived in isolation, and therefore modern Icelanders are distinguished by a relatively low level of genetic diversity, and this makes it easier to identify genetic variants that increase the risk of developing a particular disease. Careful genealogical records accepted in Icelandic families are also an important help for geneticists.
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