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- Title
Genetic associations of nonsynonymous exonic variants with psychophysiological endophenotypes.
- Authors
Vrieze, Scott I.; Malone, Stephen M.; Pankratz, Nathan; Vaidyanathan, Uma; Miller, Michael B.; Kang, Hyun Min; McGue, Matt; Abecasis, Gonçalo; Iacono, William G.
- Abstract
We mapped ∼85,000 rare nonsynonymous exonic single nucleotide polymorphisms ( SNPs) to 17 psychophysiological endophenotypes in 4,905 individuals, including antisaccade eye movements, resting EEG, P300 amplitude, electrodermal activity, affect-modulated startle eye blink. Nonsynonymous SNPs are predicted to directly change or disrupt proteins encoded by genes and are expected to have significant biological consequences. Most such variants are rare, and new technologies can efficiently assay them on a large scale. We assayed 247,870 mostly rare SNPs on an Illumina exome array. Approximately 85,000 of the SNPs were polymorphic, rare ( MAF < .05), and nonsynonymous. Single variant association tests identified a SNP in the PARD3 gene associated with theta resting EEG power. The sequence kernel association test, a gene-based test, identified a gene PNPLA7 associated with pleasant difference startle, the difference in startle magnitude between pleasant and neutral images. No other single nonsynonymous variant, or gene-based group of variants, was strongly associated with any endophenotype.
- Subjects
EXONS (Genetics); HUMAN genetic variation; PSYCHOPHYSIOLOGY &; genetics; SINGLE nucleotide polymorphisms; ELECTROENCEPHALOGRAPHY; GALVANIC skin response
- Publication
Psychophysiology, 2014, Vol 51, Issue 12, p1300
- ISSN
0048-5772
- Publication type
Article
- DOI
10.1111/psyp.12349