Table 1 eQTL studies in human brain^a

Gibbs et al.³⁴ (part of GTEx pilot)

Caudal pons

Neurologically normal controls

69% Male and 31% female

Caucasian

Microarray (Illumina Human Ref-8 Expression)

Cerebellum

frontal cortex

Temporal cortex

Ramasamy et al.³⁸ (UKBEC)

Occipital cortex

Neurologically normal controls

74.5% Male and 25.5% female

Caucasian

Microarray (Affymetrix Huamn ST 1.0)

Frontal cortex

Temporal cortex

Hippocampus

Intralobular white matter

Cerebellar cortex

Thalamus

Putamen

Substantia nigra

Medulla

Colantuoni et al.³² (BrainCloud)

Dorsolateral Pre frontal cortex

Neurological normal controls

66% Male and 34% female

147 African-American; 112 Caucasian; 6 Hispanic; 4 Asian

Microarray (Illumina Human 49K Oligo array)

Liu et al.⁴¹

Prefrontal cortex

39 Bipolar disorder; 37 schizophrenia; 11 major depression; 40 controls

65% Male and 35% female

Caucasian

Microarray (Affymetrix Human Genome U133A)

Myers et al.⁴²

Cortex (pooled data from 20% frontal, 70% temporal and 1% parietal)

Neurological normal controls

54% Male and 46% female

Caucasian

Microarray (Illumina Human Refseq-8)

Webster et al.⁴³

Cortex (pooled from 21% frontal, 73% temporal, 2% parietal and 3% cerebellar)

Neurological normal controls

55% Male and 45% female

Caucasian

Microarray (Illumina Human Refseq-8)

Cortex (pooled from 18% frontal, 60% temporal, 10% parietal and 13% cerebellar)

Patients with late-onset Alzheimer’s disease

50% Male and 50% female

Caucasian

Heinzen et al. ⁴⁰ (SNPExpress)

Frontal cortex

Neurological normal controls

59% Male and 41% female

Caucasian

Microarray (Affymetrix Huamn ST 1.0)

Zou et al. ⁴⁴

Cerebellum

Patients with Alzheimer’s disease

49% Male and 51% female

Caucasian

Microarray (Illumina HumanHT−12 v4.0)

Patients with other brain pathologies

64% Male and 36% female

Caucasian

Temporal cortex

Patients with Alzheimer’s disease

47% Male and 53% female

Caucasian

Patients with other brain pathologies

60% Male and 40% female

Caucasian

GTEx, v6^{35, 36}

Anterior cingulate caudate, caudate (basal ganglia), cerebellar hemisphere, cerebellum, cortex, frontal cortex, hippocampus, hypothalamus, nucleus accumbens (basal ganglia), putamen (basal ganglia)

Neurological normal controls

NA

NA

RNA-sequencing (polyA)

UKBEC (unpublished)

Substantia nigra, putamen

Neurological normal controls

NA

Caucasian

RNA-sequencing

Lieber Institute (unpublished)

Dorsolateral prefrontal cortex, hippocampus

Patients with bipolar disorder, schizophrenia and major depressive disorder, and neurological normal controls

NA

NA

RNA-sequencing

CommonMind consortium³⁹

Dorsolateral prefrontal cortex

258 Patients with schizophrenia; 279 controls

NA

Caucasian 80.7%; African-American 14.7%; Hispanic 7.7%; East Asian 0.6%

RNA-sequencing (RiboZero)