Table 2.
Validation of some of the TWAS prioritized genes.
| GENES | METHODS | TISSUES | Q-VALUE+ | ACTG TRAITS | GWAS CATALOG REPORTED TRAITS | PMID |
|---|---|---|---|---|---|---|
| ATF6 | PrediXcan | Brain | 1.30E-02 | Absolute neutrophil count | White blood cell count | 28158719 |
| UTMOST | Transformed Fibroblasts*, Brain | 1.63E-02 | ||||
| VANGL2 | PrediXcan | Brain | 1.30E-02 | Absolute neutrophil count | Multiple sclerosis | 24076602 |
| UTMOST | Brain | 4.70E-02 | ||||
| ADAMTS4 | UTMOST | Artery | 1.50E-04 | Absolute neutrophil count*, White blood cell count | Monocyte percentage of white cells | 27863252 |
| ALDH5A1 | PrediXcan | Colon*, Artery, Liver, Lung, Nerve, Pancreas, Skin, Thyroid, Transformed Lymphocytes | 1.57E-05 | Alkaline phosphatase | Liver enzyme levels (alkaline phosphatase) | 22001757 |
| UTMOST | Artery*, Adipose, Adrenal Gland, Brain, Breast, Colon, Esophagus, Heart, Liver, Lung, Nerve, Ovary, Pancreas, Pituitary, Prostate, Skeletal Muscle, Skin, Small Intestine, Spleen, Stomach, Testis, Thyroid, Transformed Lymphocytes, Uterus, Vagina | 6.58E-03 | Alkaline phosphatase | |||
| ITLN1 | PrediXcan | Stomach | 1.04E-05 | Alkaline phosphatase, Absolute basophil count, Triglyceride, Viral load | Crohn’s disease | 18587394 |
| CELSR2 | PrediXcan | Brain*, Skeletal Muscle | 6.67E-06 | Cholesterol, Fasting cholesterol, Fasting LDL, LDL | Total cholesterol, LDL | 20686565, 17903299 |
| PSRC1 | PrediXcan | Lung*, Brain, Esophagus, Pancreas, Pituitary, Skeletal Muscle, Skin, Whole Blood | 8.47E-06 | LDL*, Cholesterol, Fasting cholesterol, Fasting LDL | Total cholesterol, LDL | 20686565, 17903299, 19936222, 17903299, 25101658 |
| UTMOST | Heart*, Adipose, Brain, Breast, Colon, Esophagus, Liver, Lung, Nerve, Ovary, Pancreas, Pituitary, Prostate, Skeletal Muscle, Skin, Testis, Thyroid, Uterus, Whole Blood | 1.75E-05 | ||||
| CETP | PrediXcan | Colon | 3.24E-17 | HDL*, Fasting HDL | HDL cholesterol | 25884002, 20686565 |
| MROH2A | PrediXcan | Adipose | 5.23E-03 | Total bilirubin | Bilirubin levels | 25884002,21646302 |
| UTMOST | Stomach | 5.97E-27 | ||||
| UGT1A1 | PrediXcan | Skin | 7.13E-07 | Total bilirubin | Bilirubin levels | 25884002,21646302 |
| UGT1A7 | UTMOST | Skin*, Adrenal Gland, Colon, Esophagus, Liver, Stomach | 5.15E-40 | Total bilirubin | Bilirubin levels | 25884002,21646302 |
| APOA1 | PrediXcan | Brain | 2.93E-02 | Triglyceride | Total cholesterol, Triglyceride, LDL, HDL | 20686565,17903299 |
| APOC3 | PrediXcan | Heart | 1.61E-02 | Triglyceride | Total cholesterol, Triglyceride, LDL, HDL | 20686565,17903299 |
Bolded tissues are known trait-related tissues.
*
denotes the most significant tissue and/or trait that were associated with genes.
+
q-value in the most significant tissue denoted by asterisk.