Genetic associations of nonsynonymous exonic variants with psychophysiological endophenotypes
Year: 2014
Type: article
Study design: Observational Study
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.
Source: Psychophysiology
DOI: 10.1111/psyp.12349
Institutions: University of Michigan, University of Minnesota
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze
Awards: G1050708039, G1052645489, G1104670545, G1342740831, Twin Study of Female Alcoholism and Other Disorders, G1505664221, Substance Abuse & Behavioral Disinhibition: Integrating Genes & Environment, G1766463397, G2399428660, Studies of Rare Genetic Variation in the Isolated Population of Sardinia, Adolescent drinking and midlife outcomes: A prospective cotwin control study, G3089696063, G3806324649, G3867764004, G3935526752, G5072599845, Twin Study of ADHD, CD and Substance Abuse, G5322692167, G5621506578, Computational and statistical models for human genetics, Substance Abuse & Behavioral Disinhibition: Integrating Genes & Environment, Twin Family Study of Vulnerability to Substance Abuse, Adult consequences of youth substance use: Twin study enriched for SUD risk, Twin Family Study of Vulnerability to Substance Abuse, Studies of Rare Genetic Variation in the Isolated Population of Sardinia, G8368690559, G8400609563, Delineating Gene, Environment, & Development Interplay in Substance Use Disorders, G937110402
OpenAlex ID: W1905087892