Titel på undersøgelse:

Genome-wide Association Meta-analysis in 269,867 Individuals Identifies New Genetic and Functional Links to Intelligence.

Forfattere: Savage, Jeanne E., et al. | År: 2018 | Kapitel:

En stor genetisk undersøgelse af intelligens med 269.867 deltagere har identificeret 205 genomiske loci, hvoraf 190 er nye. De associerede gener er stærkt udtrykt i hjernen og involverer vækst og synaptisk struktur. Der er også identificeret beskyttende effekter af intelligens mod Alzheimers sygdom og ADHD samt en bidirektional sammenhæng med skizofreni.

Hele abstrakt på originalsprog:

Intelligence is highly heritable and a major determinant of human health and well-being. Recent genome-wide meta-analyses have identified 24 genomic loci linked to variation in intelligence, but much about its genetic underpinnings remains to be discovered. Here, we present a large-scale genetic association study of intelligence (n = 269,867), identifying 205 associated genomic loci (190 new) and 1,016 genes (939 new) via positional mapping, expression quantitative trait locus (eQTL) mapping, chromatin interaction mapping, and gene-based association analysis. We find enrichment of genetic effects in conserved and coding regions and associations with 146 nonsynonymous exonic variants. Associated genes are strongly expressed in the brain, specifically in striatal medium spiny neurons and hippocampal pyramidal neurons. Gene set analyses implicate pathways related to nervous system development and synaptic structure. We confirm previous strong genetic correlations with multiple health-related outcomes, and Mendelian randomization analysis results suggest protective effects of intelligence for Alzheimer’s disease and ADHD and bidirectional causation with pleiotropic effects for schizophrenia. These results are a major step forward in understanding the neurobiology of cognitive function as well as genetically related neurological and psychiatric disorders.