Abstract
Genome-wide association (GWA) studies have uncovered DNA variants associated with individual differences in general cognitive ability (g), but these are far from capturing heritability estimates obtained from twin studies. A major barrier to finding more of this ‘missing heritability’ is assessment––the use of diverse measures across GWA studies as well as time and the cost of assessment. In a series of four studies, we created a 15-min (40-item), online, gamified measure of g that is highly reliable (alpha = 0.78; two-week test-retest reliability = 0.88), psychometrically valid and scalable; we called this new measure Pathfinder. In a fifth study, we administered this measure to 4,751 young adults from the Twins Early Development Study. This novel g measure, which also yields reliable verbal and nonverbal scores, correlated substantially with standard measures of g collected at previous ages (r ranging from 0.42 at age 7 to 0.57 at age 16). Pathfinder showed substantial twin heritability (0.57, 95% CIs = 0.43, 0.68) and SNP heritability (0.37, 95% CIs = 0.04, 0.70). A polygenic score computed from GWA studies of five cognitive and educational traits accounted for 12% of the variation in g, the strongest DNA-based prediction of g to date. Widespread use of this engaging new measure will advance research not only in genomics but throughout the biological, medical, and behavioural sciences.
Highlights
Given its association with crucial life outcomes, it is essential to understand the genetic and environmental mechanisms that support the development of general cognitive ability (g)
The current paper describes our work developing and validating detect genetic associations, the effect sizes of the detected this new, brief, easy-to-administer, gamified measure of g in a associations, and the predictive power and specificity of the polygenic scores that derive from Genome-wide association (GWA) studies [35,36,37]
Study 1: Identifying the most informative verbal and nonverbal cognitive tests: principal component analysis In Study 1 we administered a battery of 18 widely used cognitive tests, which we identified through an in-depth review of the literature
Summary
Given its association with crucial life outcomes, it is essential to understand the genetic and environmental mechanisms that support the development of general cognitive ability (g). Traditional cognitive assessment is expensive and timeconsuming and unsuited to large biobanks; gene discovery studies have had to integrate data from multiple cohorts that differ widely in the quality of measurement of g. The symbol g was proposed more than a century ago to denote the substantial covariance among diverse tests of cognitive abilities. This underlying dimension runs through diverse cognitive abilities such as abstract reasoning, spatial ability and verbal ability and dominates the predictive validity of cognitive tests for educational, occupational, and life outcomes [2,3,4]. In a meta-analysis of over 460 datasets, the average correlation among such diverse tests was about 0.30, and a general factor (first unrotated principal component) accounted for about 40% of the tests’ total variance [5]
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