Icelanders a genetic “selfie” become – iprofesional.com

A team of Icelandic scientists developed the most comprehensive genetic study to date of a closed population, which places the first common ancestor of humans 239,000 years ago, 100,000 earlier than previously thought.

The study, published in the journal Nature Genetics , also identifies various mutations associated with diseases such as Alzheimer and liver ailments, and extends the current knowledge about which genes essential to human life.

For these data, scientists sequenced the complete genome of 2,636 Icelanders and combined that information with individual genotype-less detallado- 104,000 other people, about one third of the population of this small country.

This comprehensive database, hosted on the tabs photo of this note, crossed with clinical histories of the public health system and with detailed genealogical records preserved Iceland, which allowed to determine which genetic variations increase risk of Alzheimer’s disease, liver and thyroid ailments, among other diseases.

This genetic “national selfie”, as defined by Kari Stefansson , a professor at the Reykjavik University and author of the work, will have in the future important implications for medicine and research.

Nature Genetics simultaneously published four articles related to the same study, the first of which identified over 20 million genetic variants among Icelanders.

With that information, the group of scientists led by Stefansson started working on specific applications that present in other documents.

One of them points to a mutation in the gene MYL4 as responsible for disorders of heart rhythm (atrial fibrillation) and identifies genetic variations that can predict the risk of liver disease and the possibility of maternally inherited an imbalance in the hormones of the thyroid gland.

The mutations ABCA7 are also associated in this study the possibility of developing Alzheimer’s.

The scientists also identified about 8,000 individuals with at least one gene completely lost its function, a finding that You can make a new pathway in genetic research.

For decades, blocked in laboratories genes in mice in order to realize what is its function in the body, a kind of analysis can now be performed in humans.

The scientists identified 1,171 genes blocked, most of which are linked to the olfactory receptors, which allow to discriminate between different odors.

The genes linked to brain functions, however, rarely are blocked, a finding that allow research to deepen knowledge about those parts of the genome essential for human life.

“When we started to study the genome diversity we focus on determining mutations that can cause disease, but there is more to this data. Will allow us to study the history of our population in Iceland and human populations in general, “he said in a conference call Stefansson, quoted by the agency Efe.

Professor at the University of Reykjavik and founder of the Icelandic pharmaceutical deCODE Genetics signed a fourth study published in Nature Genetics that quantifies the mutations of the Y chromosome, present only in males.

Thanks to the accurate data on 753 Icelandic men belonging to 274 households has managed to present the most accurate so far on that chromosome variations between generations estimate.

That estimate goes beyond medical applications and can be used to date events historical and deepen the knowledge on the evolution of the human species.

From these data, Stefansson and his group argue that the most recent common ancestor shared by all human beings through the Y chromosome is “younger than we thought until now” and could have lived about 239,000 years ago, about 100,000 years earlier than previous estimates.