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Abundant Quantitative Trait Loci Exist for DNA Methylation and Gene Expression in Human Brain
A set of integrated experiments that investigate the effects of common genetic variability on DNA methylation and mRNA expression in four human brain regions each from 150 individuals find an abundance of genetic cis regulation of mRNA expression and show for the first time abundant quantitative trait loci for DNA CpG methylation across the genome. Expand
Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study
The data suggest the presence of a founder mutation for chromosome 9p21-linked ALS in the Finnish population, and the overlap with the risk haplotype recently reported for frontotemporal dementia provides further evidence of a shared genetic cause for these two neurodegenerative diseases. Expand
Genome-wide meta-analysis identifies new susceptibility loci for migraine
A meta-analysis across 29 genome-wide association studies, including a total of 23,285 individuals with migraine and 95,425 population-matched controls, identifies 12 loci associated with migraine susceptibility and suggests potential functional candidate genes at four loci. Expand
A Genome-Wide Association Study Identifies Protein Quantitative Trait Loci (pQTLs)
It is shown that common genetic variation influences levels of clinically relevant proteins in human serum and plasma and the identification of protein quantitative trait loci (pQTLs) may be a powerful complementary method of improving the understanding of disease pathways. Expand
Identification of common variants influencing risk of the tauopathy Progressive Supranuclear Palsy
Two independent variants in MAPT affecting risk for PSP are confirmed, one of which influences MAPT brain expression and the genes implicated encode proteins for vesicle-membrane fusion at the Golgi-endosomal interface and for a myelin structural component. Expand
Common genetic variants influence human subcortical brain structures
The highly complex structure of the human brain is strongly shaped by genetic influences. Subcortical brain regions form circuits with cortical areas to coordinate movement, learning, memory andExpand
Distinct DNA methylation changes highly correlated with chronological age in the human brain.
It is shown that the CpG sites where the DNA methylation level is significantly associated with age are physically close to genes involved in DNA binding and regulation of transcription, which suggests that specific age-related DNAmethylation changes may have quite a broad impact on gene expression in the human brain. Expand
MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies
These findings would suggest that contrary to the prevailing view, genetic risk factors for neurodegenerative diseases at the MAPT locus are likely to operate by changing mRNA splicing in different brain regions, as opposed to the overall expression of theMAPT gene. Expand
Genome-wide association study of obsessive-compulsive disorder
Although no SNPs were identified to be associated with OCD at a genome-wide significant level in the combined trio–case–control sample, a significant enrichment of methylation QTLs and frontal lobe expression quantitative trait loci (eQTLs) was observed within the top-ranked SNPs, suggesting these top signals may have a broad role in gene expression in the brain, and possibly in the etiology of OCD. Expand
Novel genetic loci underlying human intracranial volume identified through genome-wide association
Variants for intracranial volume were also related to childhood and adult cognitive function, and Parkinson's disease, and were enriched near genes involved in growth pathways, including PI3K-AKT signaling. Expand