Thousands of rare protein coding genetic variants clarify the impact of disease

Science and Technology Daily, Beijing, August 12 (Reporter Zhang Mengran) A genetics paper published on the 12th in the British "Nature" magazine, based on information from 280,000 volunteers from the British Biobank, clarified thousands of rare protein codes The impact of genetic variation on disease
.

Genome-wide association studies have 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 disease has been relatively sufficient, but there have been few studies on rare variants in the scientific community.
, So people know less about it
.

The great opportunity to study these rare variants is the large-scale biomedical database
.

This time, a team led by researchers from AstraZeneca in the United Kingdom used whole-exome sequencing data from 281,104 volunteers in the biological library to evaluate rare protein coding variants and more than 18,500 complex phenotypes (such as asthma, etc.
).
Genetic and environmental factors)
.

The researchers said that some of the gene-phenotype associations in the results are considered to have the potential to become new targets for drug intervention

However, although about 12,000 of the volunteers in this study have genetic ancestors from Africa, East Asia and South Asia, most of the samples are from volunteers of European descent, which means that the diversity of the biological sample bank needs to be strengthened.

The British Biobank is a 30-year large-scale scientific research initiated by the British government.