Table 1.
Characteristics of the PAH Cohort eQTL mapping study and published eQTL studies used for confirmation.
| Westra et al. | Joehanes et al. | GTEx | This Study | |
|---|---|---|---|---|
| Gene expression array | Illumina HumanHT-12 v4.0 | Affymetrix HuEx 1.0 ST | RNAseq | RNAseq |
| Genotyping panel | HapMap2 | 1000-Genomes | WGS | WGS |
| MAF threshold | ≥5% | ≥1% | ≥1% | ≥5% |
| n variants in analysis | not reported | 8,510,936 | 10,008,325 | 7,362,566 |
| cis-eQTL | ≤250 kb from PMP | ≤1 Mb from the TSS | ≤1 Mb from the TSS | ≤1 Mb from the TSS |
| trans-eQTL | ≥5 Mb from PMP | >1 Mb from the TSS | >1 Mb from the TSS | >1 Mb from the TSS |
Comparison of gene expression- and genetic data and expression quantitative trait locus (eQTL) definitions. MAF = minor allele frequency; PMP = probe midpoint; TSS = transcription start site; RNAseq = RNA sequencing; WGS = whole-genome sequencing.