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2021-08-13 13:16:53 | onclick: | Effects of thousands of rare protein coding genetic variations on diseases |
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According to the information from 280000 volunteers in the British biological sample bank, a genetics paper published in the British journal Nature on the 12th clarified the impact of thousands of rare protein coding genetic variations on diseases. This study may contribute to the understanding of diseases and the development of new drugs.
Genome wide association research has found thousands of common variants related to human diseases. It can be said that the research on the impact of these common gene variants on health and diseases has been relatively sufficient. However, there has been little research on rare variants in the scientific community, so people know less about them.
A great opportunity to study these rare variants is the large biomedical database. Among them, the British biological sample bank contains medical and genetic data of more than 500000 people (at the time of recruitment), and its resources are very helpful to study the genetic basis of health and disease. The largest data set contained in the biological sample database is genotype and brain scanning. These resources are conducive to the study of genes affecting human structure and function.
This time, the team led by AstraZeneca researchers in the UK used the whole exon sequencing data of 281104 biological sample bank volunteers to evaluate the relationship between rare protein coding variants and more than 18500 complex phenotypes (such as asthma and other diseases affected by multiple genetic and environmental factors). They identified correlations at the level of 46837 variants and 1703 genes, including previously unknown associations.
The researchers said that some gene phenotype associations in the results are considered to have the potential to become new targets for drug intervention.
However, although about 12000 volunteers in this study have genetic ancestors from Africa, East Asia and South Asia, most of the samples are volunteers of European descent, which means that the diversity construction of biological sample bank needs to be strengthened.
British biological sample bank is a 30-year large-scale scientific research initiated by the British government. It is also one of the largest and most ambitious health research projects in the UK. Its goal is to build the world's largest information resource bank on genes and environmental factors that cause or prevent diseases, and explore the relationship between human specific genes, lifestyle and health status, Improve understanding of some genetic diseases, including cancer, heart disease, diabetes and mental illness.
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