Rare genetic variants linked to lower cognitive test scores in expanded analysis
The largest genetic study of cognition to date has been published, involving nearly half a million people of European ancestry. This provides a new understanding of the genetic factors that shape cognitive differences and can help us better understand certain health conditions, including neurodevelopmental conditions.
This study, published in Nature Genetics on October 5, 2026, analyzed a large genetic dataset of nearly half a million people of European ancestry. The research aimed to understand the genetic factors that influence cognitive differences and health conditions, including neurodevelopmental disorders. Previous studies had limited data due to ascertainment bias, which occurred when only a select group of participants (those who chose to complete a test) were included in the analysis.
This bias could lead to inaccurate conclusions about genetic influences on cognition. To address this issue, researchers at the Wellcome Sanger Institute and Amsterdam University Medical Center used statistical methods to estimate the likely cognitive test scores for participants who did not complete the test. This approach increased the study's sample size from around 270,000 to over 455,000 people.
The expanded dataset revealed that adding estimated scores increased the number of common DNA changes associated with cognitive test scores from 390 to 550, a 40% increase. This expansion also identified 26 rare genetic variants linked to differences in cognitive ability, with 14 of these genes previously known to play a role in neurodevelopmental conditions.
The findings highlight the complex interplay between genetics and cognition, suggesting that rare genetic variants can influence cognitive ability even without causing clinical diagnoses of neurodevelopmental disorders. The researchers emphasize that their results should be used to improve scientific understanding of cognition on a group level, rather than making individual predictions about cognitive ability.
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