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Mapping the genetic variation of regional brain volumes as explained by all common SNPs from the ADNI study
Journal article   Open access   Peer reviewed

Mapping the genetic variation of regional brain volumes as explained by all common SNPs from the ADNI study

Christopher Bryant, Kelly S Giovanello, Joseph G Ibrahim, Jing Chang, Dinggang Shen, Bradley S Peterson, Hongtu Zhu and Alzheimer's Disease Neuroimaging Initiative
PloS one, Vol.8(8), pp.e71723-e71723
2013
DOI: 10.1371/journal.pone.0071723
PMCID: PMC3756017
PMID: 24015190
url
https://doi.org/10.1371/journal.pone.0071723View
Published (Version of record) Open Access

Abstract

Typically twin studies are used to investigate the aggregate effects of genetic and environmental influences on brain phenotypic measures. Although some phenotypic measures are highly heritable in twin studies, SNPs (single nucleotide polymorphisms) identified by genome-wide association studies (GWAS) account for only a small fraction of the heritability of these measures. We mapped the genetic variation (the proportion of phenotypic variance explained by variation among SNPs) of volumes of pre-defined regions across the whole brain, as explained by 512,905 SNPs genotyped on 747 adult participants from the Alzheimer's Disease Neuroimaging Initiative (ADNI). We found that 85% of the variance of intracranial volume (ICV) (p = 0.04) was explained by considering all SNPs simultaneously, and after adjusting for ICV, total grey matter (GM) and white matter (WM) volumes had genetic variation estimates near zero (p = 0.5). We found varying estimates of genetic variation across 93 non-overlapping regions, with asymmetry in estimates between the left and right cerebral hemispheres. Several regions reported in previous studies to be related to Alzheimer's disease progression were estimated to have a large proportion of volumetric variance explained by the SNPs.
Phenotype Genome-Wide Association Study Humans Middle Aged Male Alzheimer Disease - pathology Organ Size - genetics Aged, 80 and over Brain - pathology Female Aged Polymorphism, Single Nucleotide Alzheimer Disease - genetics

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