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Genetic associations of nonsynonymous exonic variants with psychophysiological endophenotypes
Author(s) -
Vrieze Scott I.,
Malone Stephen M.,
Pankratz Nathan,
Vaidyanathan Uma,
Miller Michael B.,
Kang Hyun Min,
McGue Matt,
Abecasis Gonçalo,
Iacono William G.
Publication year - 2014
Publication title -
psychophysiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.661
H-Index - 156
eISSN - 1469-8986
pISSN - 0048-5772
DOI - 10.1111/psyp.12349
Subject(s) - endophenotype , nonsynonymous substitution , single nucleotide polymorphism , genetics , snp , biology , psychology , gene , genotype , neuroscience , cognition , genome
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 , P 300 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 PARD 3 gene associated with theta resting EEG power. The sequence kernel association test, a gene‐based test, identified a gene PNPLA 7 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.