Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples.

ABSTRACT:

Importance;

Copy number variants (CNVs) classified as pathogenic are identified in 10% to 15% of patients referred for neurodevelopmental disorders. However, their effect sizes on cognitive traits measured as a continuum remain mostly unknown because most of them are too rare to be studied individually using association studies.

Objective

To measure and estimate the effect sizes of recurrent and nonrecurrent CNVs on IQ.

Design, setting, and participants

This study identified all CNVs that were 50 kilobases (kb) or larger in 2 general population cohorts (the IMAGEN project and the Saguenay Youth Study) with measures of IQ. Linear regressions, including functional annotations of genes included in CNVs, were used to identify features to explain their association with IQ.

SUBMITTER: Huguet G 

PROVIDER: S-EPMC5875373 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature