Study Examines Association of Genetic Variants with Cognitive Impairment

Individually rare but collectively common intermediate-size copy number variations may be negatively associated with educational attainment, according to a study in the May 26 issue of JAMA. Copy number variations (CNVs) are regions of the genome that differ in the number of segments of DNA.

The Database of Genomic Variants catalogs approximately 2.4 million DNA CNVs. Some of them have been previously implicated as causal of a wide variety of traits and conditions. According to background information in the article large (defined as larger than 500 kb), recurrent CNVs have been particularly associated with developmental delay and intellectual disability (characterized by limited intellectual functioning and impaired adaptive behavior in everyday life) in symptomatic individuals ascertained in clinical settings.

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