FEB 03, 2020 4:19 PM PST

Advances in Genetics From the GenomeAsia 100K Project

WRITTEN BY: Carmen Leitch

Scientists are taking note of the lack of diversity in genetics; often, genetic information from people only of European descent has been used for research studies. In recent years, investigators have noted that this limits our understanding of human genetics. In an attempt to start fixing this problem, there have been efforts to include people with ancestry from different groups, and while there is still a lot more work to be done, some researchers are trying to widen the scope of the impact of genetic research. New work has investigated Asian genetics and is now helping us learn more about the history of human migration, human genetics, and human disease. The effort has been led by the GenomeAsia100K Consortium and includes genomic data from 1,739 people living in 64 Asian countries in 219 population groups. They want to eventually sequence the genomes of 100,000 Asian people.

Image credit: Pixabay

"Under-representation of Asian populations in genetic studies has meant that medical relevance for more than half of the human population is reduced," noted researcher Aakrosh Ratan, Ph.D., of the University of Virginia'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."

Everyone carries a genome with basically the same genes, but there are small changes in those genes, some of which are common in a population. These small variations can change certain characteristics, for example they might make people more susceptible to diabetes or heart disease. This work will help scientists learn more about these risk factors in Asian populations, the diseases they are involved in, and how to treat those diseases.

"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."

"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 added. "These reference databases are vital to predict or understand why some drugs should not be dispensed in certain dosages to people of certain populations."

Sources: AAAS/Eurekalert! via University of Virginia Health System, Nature

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