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Participation in Genetic Studies Has Ties to DNA, UK Biobank Study Shows

NEW YORK – The answer to why some people choose to participate in genetic studies may be partially rooted in their genes, a new study has found.

In a new paper published in Nature Genetics on Thursday, researchers from the University of Oxford suggested that the probability of someone participating in genetic studies has a genetic component that is correlated with but distinct from other human traits.

"Our results really show that participation in a genetic study is a complex trait in its own right, and it should be an established phenotype on its own," lead and co-corresponding author Stefania Benonisdottir, a researcher at the Big Data Institute of the Li Ka Shing Centre for Health Information Discovery at Oxford, told GenomeWeb.

For their study, the researchers turned to data from the UK Biobank, which contains information from half a million participants. Because they could not directly compare DNA from participants in that study with that of non-participants, they instead analyzed close relatives that participated.

Specifically, they studied 4,427 parent-offspring pairs and 16,668 sibling pairs of white British descent and compared allele frequencies in shared and not-shared genetic segments.

The idea was that an allele that occurs more frequently in participants of a study than in non-participants would also be more common in segments of DNA that are shared between two related participants versus areas that they don't share. The findings showed that the genetic component underlying participation in the study is correlated with, but distinct from, genetic elements associated with traits such as educational attainment and body mass index.

"Instead of thinking of participation as a consequence of other characteristics and established traits, we propose that the propensity to participate in a wide range of events is a behavioral trait in its own right," the authors noted.

The genetic regions responsible for participation in research projects can be passed down through families and may affect people's participation in many different studies over their lifetimes, they wrote.

Of note, the results revealed a participation bias, or ascertainment bias, in the UK Biobank, meaning that the people the resource contains do not necessarily represent the intended study population.

"Our study identifies detectable footprints of participation bias in the genetic data of participants, which can be exploited statistically to enhance research accuracy for both participants and non-participants alike," co-corresponding author Augustine Kong, a professor of statistical genetics at Oxford's Leverhulme Centre for Demographic Science, said in a statement. 

In the future, the findings could help identify the problem of participation bias in other genetic studies, Benonisdottir said. "We, however, don't necessarily expect to see the same results in different datasets as each of those may have a different design and study environment compared to the UK Biobank," she added.