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. 2017 Jan 3;22(4):497–511. doi: 10.1038/mp.2016.241

Table 1. eQTL studies in human braina.

Study No. of individuals Tissue source No. of tissue samples Neuropathology Age Gender Ethnicity Expression detection methods
Gibbs et al.34 (part of GTEx pilot) 150 Caudal pons 142 Neurologically normal controls 15–101; mean 46.2 69% Male and 31% female Caucasian Microarray (Illumina Human Ref-8 Expression)
    Cerebellum 143          
    frontal cortex 143          
    Temporal cortex 144          
Ramasamy et al.38 (UKBEC) 134 Occipital cortex 129 Neurologically normal controls 16–102; mean 59 74.5% Male and 25.5% female Caucasian Microarray (Affymetrix Huamn ST 1.0)
    Frontal cortex 127          
    Temporal cortex 119          
    Hippocampus 122          
    Intralobular white matter 131          
    Cerebellar cortex 130          
    Thalamus 124          
    Putamen 129          
    Substantia nigra 101          
    Medulla 119          
Colantuoni et al.32 (BrainCloud) 269 Dorsolateral Pre frontal cortex 269 Neurological normal controls Fetal 80 mean 27.8 66% Male and 34% female 147 African-American; 112 Caucasian; 6 Hispanic; 4 Asian Microarray (Illumina Human 49K Oligo array)
Liu et al.41 127 Prefrontal cortex 127 39 Bipolar disorder; 37 schizophrenia; 11 major depression; 40 controls 20–65; median 45 65% Male and 35% female Caucasian Microarray (Affymetrix Human Genome U133A)
Myers et al.42 193 Cortex (pooled data from 20% frontal, 70% temporal and 1% parietal) 193 Neurological normal controls 65–100; average 81 54% Male and 46% female Caucasian Microarray (Illumina Human Refseq-8)
Webster et al.43 364 Cortex (pooled from 21% frontal, 73% temporal, 2% parietal and 3% cerebellar) 188 Neurological normal controls 65–100; average 81 55% Male and 45% female Caucasian Microarray (Illumina Human Refseq-8)
    Cortex (pooled from 18% frontal, 60% temporal, 10% parietal and 13% cerebellar) 176 Patients with late-onset Alzheimer's disease 68–102; average 84 50% Male and 50% female Caucasian  
Heinzen et al. 40 (SNPExpress) 93 Frontal cortex 93 Neurological normal controls 34–90; mean 74 59% Male and 41% female Caucasian Microarray (Affymetrix Huamn ST 1.0)
Zou et al. 44 ~400 Cerebellum 197 Patients with Alzheimer's disease Mean±s.d.; 73.6±5.6 49% Male and 51% female Caucasian Microarray (Illumina HumanHT−12 v4.0)
      177 Patients with other brain pathologies Mean ± s.d.; 71.7 ± 5.5 64% Male and 36% female Caucasian  
    Temporal cortex 202 Patients with Alzheimer's disease Mean±s.d.; 73.6±5.5 47% Male and 53% female Caucasian  
      197 Patients with other brain pathologies Mean±s.d.; 71.6±5.6 60% Male and 40% female Caucasian  
GTEx, v635, 36 72–103 Anterior cingulate caudate, caudate (basal ganglia), cerebellar hemisphere, cerebellum, cortex, frontal cortex, hippocampus, hypothalamus, nucleus accumbens (basal ganglia), putamen (basal ganglia) NA Neurological normal controls NA NA NA RNA-sequencing (polyA)
UKBEC (unpublished) 65–105 Substantia nigra, putamen NA Neurological normal controls NA NA Caucasian RNA-sequencing
Lieber Institute (unpublished) >700 Dorsolateral prefrontal cortex, hippocampus NA Patients with bipolar disorder, schizophrenia and major depressive disorder, and neurological normal controls NA NA NA RNA-sequencing
CommonMind consortium39 537 Dorsolateral prefrontal cortex 537 258 Patients with schizophrenia; 279 controls NA NA Caucasian 80.7% African-American 14.7% Hispanic 7.7% East Asian 0.6% RNA-sequencing (RiboZero)

Abbreviations: GTEx, Genotype-Tissue Expression; eQTL, expression quantitative trait locus; NA, not available; UKBEC, United Kingdom Brain Expression Consortium.

a

Nonexhaustive list of examples.