CHARLOTTESVILLE, Va., Jan. 28, 2020 – An ambitious new study of genes in Asian populations is filling in big gaps in our
understanding of human genetics, shedding light on the history of human migration and ultimately aiming to improve our
ability to treat disease.
Researchers from dozens of institutions around the world, including the University of Virginia School of Medicine, are
seeking to address the under-representation of Asian populations in genetic research. Working as the GenomeAsia100K
Consortium, they have examined the genomes of 1,739 people from 219 different population groups in 64 countries across
Asia. The ultimate goal, as the group’s name suggests, is to sequence the genomes of 100,000 people across Asia. This
will produce a treasure trove of genetic information to help medical researchers and doctors better understand and treat
genetic diseases, identify those at risk and even determine how patients will respond to drugs.
“Under-representation of Asian populations in genetic studies has meant that medical relevance for more than half of the
human population is reduced,” said researcher Aakrosh Ratan, PhD, of UVA’s Department of Public Health Sciences and the
Center for Public Health Genomics. “The main goal of the project is to increase the number of people included in these
genetic studies, primarily to boost our knowledge about medical genetics but also to understand human migration and
human origins.”
Important Gene Mutations
There are natural gene mutations among and between different populations, Ratan explained. This partly explains why
certain populations of different ancestry seem to have a greater risk of certain diseases. Creating detailed reference
databases for Asian populations will be a big benefit for medical genetics for all human populations but especially for
efforts to understand rare diseases in Asia.
“For example, in our new paper, we talk about MODY, which refers to maturity-onset diabetes of the young. This is a
rarer type of diabetes that usually develops before the age of 25, and often you do not require insulin,” Ratan said.
“What we showed was that if doctors wanted to treat patients in India with the disease, they would greatly benefit from
having information about genetic mutations found in Indian populations to identify the genetic differences that could be
causing the disease. If you only look in databases that contain mutation data from European individuals, you are more
likely to see false-positive results, and you will find it harder to pinpoint the exact gene causing the disease.”
Not only does the research shed light on the cause of diseases, but it will also help doctors better care for patients.
For example, some groups may be more prone to an adverse reaction to a particular drug. Identifying the genes
responsible could help doctors know which patients should not get that drug, or should not get that drug in certain
doses.
“We also studied the genetic differences associated with an adverse reaction to several common drugs and were able to
identify Asian populations that showed large variation in their response," Ratan said. "These reference databases are
vital to predict or understand why some drugs should not be dispensed in certain dosages to people of certain
populations.”
Findings Published
Ratan and his collaborators in the GenomeAsia100K Consortium have published their early findings in the prestigious
scientific journal Nature. They expect their research will continue for several years.
“I am excited that sequences from several Asian populations will become available as a result of this project,” Ratan
noted. “It was my first time working in an international consortium, and it was an amazing learning experience.”
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