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Genome‐wide scans of genetic variants for psychophysiological endophenotypes: A methodological overview
Author(s) -
Iacono William. G.,
Malone Stephen. M.,
Vaidyanathan Uma,
Vrieze Scott I.
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.12343
Subject(s) - endophenotype , heritability , single nucleotide polymorphism , genome wide association study , genetic association , genetics , genetic analysis , missing heritability problem , genome , computational biology , candidate gene , biology , psychology , gene , genotype , cognition , neuroscience
This article provides an introductory overview of the investigative strategy employed to evaluate the genetic basis of 17 endophenotypes examined as part of a 20‐year data collection effort from the M innesota C enter for T win and F amily R esearch. Included are characterization of the study samples, descriptive statistics for key properties of the psychophysiological measures, and rationale behind the steps taken in the molecular genetic study design. The statistical approach included (a) biometric analysis of twin and family data, (b) heritability analysis using 527,829 single nucleotide polymorphisms ( SNPs ), (c) genome‐wide association analysis of these SNPs and 17,601 autosomal genes, (d) follow‐up analyses of candidate SNPs and genes hypothesized to have an association with each endophenotype, (e) rare variant analysis of nonsynonymous SNPs in the exome, and (f) whole genome sequencing association analysis using 27 million genetic variants. These methods were used in the accompanying empirical articles comprising this special issue, Genome‐Wide Scans of Genetic Variants for Psychophysiological Endophenotypes .