Low-Frequency Copy-Number Variants and General Cognitive Ability: No Evidence of Association.

ABSTRACT: Although twin, family, and adoption studies have shown that general cognitive ability (GCA) is substantially heritable, GWAS has not uncovered a genetic polymorphism replicably associated with this phenotype. However, most polymorphisms used in GWAS are common SNPs. The present study explores use of a different class of genetic variant, the copy-number variant (CNV), to predict GCA in a sample of 6,199 participants, combined from two longitudinal family studies. We aggregated low-frequency (<5%) CNV calls into eight different mutational burden scores, each reflecting a different operationalization of mutational burden. We further conducted three genome-wide association scans, each of which utilized a different subset of identified low-frequency CNVs. Association signals from the burden ana

SUBMITTER: Kirkpatrick RM 

PROVIDER: S-EPMC3909536 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature