The ten most important events of 2012 in genetics according to 23andMe
According to one of the founders and chief executive officer of the company, Anne Wojcicki, genetics is currently at a stage of rapid development. Technological advances and extensive databases provide incredible progress. Research in this area continues to bring important results, ranging from understanding the importance of using genetic data in combination with a family history to assess the health status of a particular person and ending with the identification of new links between variants of the nucleotide sequence of genes and the likelihood of various diseases.
Gene analysis provides an opportunity to learn about how hereditary characteristics affect health, risk levels for certain diseases and conditions, reactions to various medications, as well as to obtain information about their origin.
The ten most important genetic findings of 2012 were selected from the results of the company's own research obtained over the past year, as well as scientific data published in peer-reviewed journals.
1. A genetic variant that protects against Alzheimer's disease
A very rare genetic variant has been discovered that reduces the likelihood of developing Alzheimer's disease by about 5 times. Among people of European descent, the frequency of its occurrence (the T-version of the rs63750847 gene, also known as the A673T variant in the APP gene) is only 1 per 10,000 people. The study of this gene has shed new light on the mechanisms of disease development. Many mutations of the APP gene trigger the development of Alzheimer's disease by excessive production of beta-amyloid protein in brain tissue, which is the main sign of Alzheimer's disease). The results of the study indicate that the protective variant of this gene acts in the opposite way. New drugs developed on the basis of the data obtained can help in the prevention of Alzheimer's disease or even the extinction of cognitive function accompanying normal aging.
2. As part of the ENCODE project, a map of previously unexplored regions of the genome has been created
Previously, geneticists were mainly engaged in the study of DNA regions encoding proteins. However, these regions make up a very small part – only 1% – of the human genome. The goal of the ENCODE project, in which more than 400 researchers have participated for several years, is to map the remaining 99% – the so-called "dark matter" of the genome. The resulting "map" is the basis of a kind of encyclopedia of the functions of many of the previously unexplored regions of the genome. This resource has incredible potential, which specialists will be able to use in the coming years.
3. Noninvasive prenatal sequencing
With an interval of only a few weeks, two independent research groups published the results of successful sequencing of the human embryo genome, conducted without the use of invasive methods. This breakthrough indicates the possibility of prenatal screening at an earlier stage of pregnancy than currently used methods of amniocentesis or chorionic villus biopsy allow. Moreover, unlike traditional methods, the application of the new approach is not associated with a potential threat to the developing embryo.
4. A new look at a group of rare diseases of the blood system known as myeloproliferative neoplasiaIn less than a year, 23andMe gathered a cohort of 1,000 people suffering from rare blood diseases belonging to the myeloproliferative neoplasia group.
Within a few months after the recruitment of this cohort was completed, the company began to publish the results obtained. Among them were both confirmations of known genetic associations with diseases and new data, including the identification of previously unknown associations between diseases of this group and genetic variants in the TERT and ATM genes.
5. New data on the origin and evolution of manSeveral independent studies provide new information about our early predecessors and the evolution of modern man.
In addition to the fascinating story of our ancestors, their migration from the African continent and interbreeding with Neanderthals and Denisov man, new research sheds light on the significance of rare genetic variants that far exceed widespread variants not only in number, but also in the severity of the impact on the risk of various diseases.
6. To predict the risk of developing diseases, it is optimal to use genetic data in combination with a family medical history23andMe specialists have developed a model demonstrating that both family history and the results of genetic tests are important for predicting the risks of developing diseases, but their combination is the most informative predictive tool.
7. Biological clock of elderly fathers
For a long time, potential fathers could neglect the passing years without worrying about when to have children, while potential mothers were constantly thinking about their ticking biological clock. However, the results of a new study indicate that the number of newly emerging mutations that a father passes on to his children increases with age. According to preliminary data, the more such mutations a child gets, the higher the risk of developing certain abnormalities, such as autism and schizophrenia.
8. Breast size matters, but not for what you think
23andMe researchers have found that genetic factors determining breast size are interrelated with the genetics of breast cancer.
9. A new approach to the treatment of cystic fibrosis
In early 2012, the U.S. Food and Drug Administration approved ivacaftor (kalideco) – ivacaftor (Kalydeco®) as a new treatment for cystic fibrosis, one of the most common hereditary diseases with an autosomal recessive type of inheritance. This drug, developed by Vertex Pharmaceuticals, is the first drug that affects one of the main causes of cystic fibrosis – a certain genetic mutation – and not the symptoms of the disease.
10. No genetic associations were found in the study of autism
It may seem strange to single out a study that has not yielded results, but sometimes the lack of evidence can point to new research directions. Recently, the frequency of autism group diseases has significantly increased in the USA, which includes a wide range of disorders, ranging from Asperger's syndrome accompanied by relatively moderate difficulties in social communication and ending with severe autism, which is characterized by repetitive behavior and serious difficulties in communication and social contacts. The absence of association does not mean that genetics does not have an important role in the development of these diseases. The results of studies involving twins indicate that autism is characterized by at least a moderate degree of heritability. However, it is possible that genetic variations play a smaller role in the formation of the risk of autism than rare mutations and the number of copies of genes. According to experts, currently available clinical methods, including karyotyping and microchips, can detect genetic aberrations in about 20% of cases of autism group diseases.
Evgeniya Ryabtseva
Portal "Eternal youth" http://vechnayamolodost.ru based on the materials of 23andMe: 23andMe Presents Top Ten Most Interesting Genetic Findings of 2012.
27.12.2012