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Approved Research

Trans-ethnic comparison of genetic basis in biobank scale

Principal Investigator: Dr Chikashi Terao
Approved Research ID: 50457
Approval date: August 3rd 2021

Lay summary

Genomic backgrounds differ between different ethnicities. So far, majority of the large genetic researches were performed using European populations.

The BioBank Japan project is one of the largest biobanks in the world that is composed of non-Europeans. We will compare the genetic analysis results of UK Biobank and those of BioBank Japan (n~200,000) to search for mutual benefits for genomic medicine in both ethnicities and also in humans.

By using the knowledge about similarities and differences of certain genetic factors between UK Biobank and the BioBank Japan,  the future genomic medicine would extend its scope from Europeans to multi-ethinic populations including East Asians. Our efforts of the analyses will also contribute to the health care of other ethnicities such as Africans, Central Asians, South Asians, Oceanians and so on, and will improve people's health in the world.

The BioBank Japan project started in 2003 and has recruited approximately 200,000 hospital-based Japanese participants. Clinical data were retrieved from medical records. DNA samples were also collected and genotyped by genome-wide SNP genotyping arrays.

We will compute the effects of genetic factors on diseases and other phenotypes between UK Biobank and the BioBank Japan, and perform phenome-wide similarity/dissimilarity search between two populations. We will also perform state-of-art analyses or develop some novel genetic methods which take population-specific linkage disequilibrium structure and population-specific gene expression patterns into consideration and compare their utility between multi-ethnic data.

We request the full cohort. We are aiming at investigating any possible phenotypes that are comparable between UK Biobank and BioBank Japan to maximize the possibility for the multi-ethnic comparison.  Primarily we are interested in genetic architecture of health outcomes (mortality and disease susceptibility).humans are substantially more likely to be approved than those without such support. The UK Biobank dataset has collected genetic information about 500,000 adults along with extensive information about those individuals' health. By examining relationships between genetic and health information we will identify those genes that play important roles in a range of illnesses. Since the human genome acts as the instructions for the body's functioning in both health and disease, the genes we identify are likely to be promising targets for new siRNA treatments. Since the number of participants in UK Biobank is so large, we will be able to identify the groups of patients within all those with a given illness who are more likely to benefit from treatment with a gene silencing drug.


i. Use genetic and health information to identify promising new targets for gene silencing drugs.

ii. Evaluate the potential safety of new targets by evaluating a wide range of health information.

iii. Identify and characterise the group(s) of patients most likely to benefit from a new gene silencing drug for a given target.

Project duration:

Since the project involves ongoing hypothesis generation and testing, we propose a three-year rolling period during which we will provide annual progress updates to UK Biobank.

Public health impact:

Gene silencing drugs offer opportunities for effective and safe treatment of long-term conditions. For example, a gene silencing drug called inclisiran, approved for prevention of cardiovascular disease, has been shown to be safe and effective and is taken once every six months. By accelerating development of similarly beneficial medicines using analysis in UK Biobank, Silence Therapeutics aims to reduce the burden of long-term conditions on the health of individuals and populations, and on the health services that care for them.