Table 1 Examples of captured transcripts with exonic eQTLs. Protein-coding genes whose expression is influenced by eQTLs are characterized by their function and tissue expression in GTEx. In brackets: fold change overexpression of associated genes in specific tissues compared to their average expression, as given by GTEx or Human Integrated Protein Expression Database (HIPED) [118] in case of KALRN
From: Intergenic disease-associated regions are abundant in novel transcripts
Captured transcript | Highest tissue expression | Haploblock associated phenotype | eQTL | Associated gene | Gene function | Tissue expression |
|---|---|---|---|---|---|---|
GCS0300 | Cervix | Prostate cancer | rs72928357 | MYEOV | Stimulation of cancer growth and proliferation [119] | Vagina (2.6x) |
GCS0406 | Heart | HDL cholesterol | rs7134375 | PDE3A | Hypertension, fat metabolism [120] | Heart (19x) |
GCS0736 | Liver, thyroid | HDL cholesterol | rs11875196 | LIPG | Modulation of HDL cholesterol [121] | Liver (14x), thyroid (78x) |
GCS1080 | Heart | Mean platelet volume | rs13058993 | KALRN | Activates Rho GTPases to regulate actin cytoskeleton [122] | Platelets (10x, HIPED), heart (2x) |
GCS1212 | Thyroid | Thyroid function | rs4835532 | Mineralocorticoid receptor (NR3C2) | Regulation of cellular ion concentrations [123] | Thyroid (7.0x) |
GCS0965 | Testes | Age at first menstruation | rs708984 | PCSK2 | Conversion of proinsulin to insulin [124] | Testis (2x), thyroid (15x) |
GCS1190 | Kidney | Metabolic traits in urine | rs2348209 | ENPEP | Peptide cleavage [125] | Kidney (11x) |