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Copy Number Variation as a Source of Genetic Variation and Child Behavior in the Fragile Families and Child Wellbeing Study

Sat, October 6, 1:15 to 2:45pm, Doubletree Hilton, Room: Coronado


Genetic heterogeneity has long been implicated in individual differences in children’s behavioral development. To date, most investigations of genetic contributions to phenotypic diversity examine variation in single base pairs in the DNA sequence (e.g., single nucleotide polymorphisms). However, there are other forms of variation in the genome that remain understudied in developmental and social sciences. Copy number variants (CNVs) broadly encompass deviations in chromosomal copies, including both deletions and duplications in the DNA sequence and account for substantial inter-individual variability in the structural genome. Importantly, CNVs can alter gene function and expression that can have downstream effects on biological processes that undergird phenotypic variation. Using data from the Fragile Families and Child Wellbeing Study (FFCWS), we identified CNVs using the PennCNV software tool (Wang et al., 2007). Participants were genotyped from saliva samples using the Illumina PsychChip. Preliminary evidence on 2224 youth (49.6% male; 48.1% Black, 26.8% Hispanic, 21.5% White) resulted in the identification of a CNV that intersects with the CC2D1A gene (140 deletions, 101 duplications). Research suggests that CC2D1A influences transcription of the serotonin-1A receptors and has been implicated in cognitive impairment (Rogaeva, Galaraga, & Albert, 2007). Preliminary analyses examined whether deviations in copy number (e.g., duplications or deletions) were associated with children’s attention. As a measure of attention, children completed the sustained attention task from the Leiter International Performance Scale (Roid & Miller, 1997) at age 5. Children were asked to put a line through as many target pictures without crossing out non-target pictures. Scores were standardized for child age at assessment. Regression analyses controlled for child sex, race/ethnicity, maternal education and poverty at birth. Deletions that intersected with the CC2D1A genes were associated with poor attentional skills at age 5 (B = -.83, SE = .41, p = .04). Providing consistent evidence across development, the presence of this deletion was also associated with higher levels of parent-reported attentional difficulties on the Child Behavior Checklist at age 15 (B = .33, SE = .16, p = .04). Duplications were not associated with attention skills at age 5 or 15. This research demonstrates the utility of the FFCWS for assessing the role of genetic variation in children’s behavior. Integration of copy number variation into developmental research has the potential to further our understanding of the ways in which genetic heterogeneity contributes to individual differences across the life course.


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