Table 1. The top 20 differentially expressed adrenal genes and other selected genes associated with monogenic disorders in humans.
Genes are ranked based on log2FC in the adrenal (n=17) compared to control samples (n=6). Further clinical information is available at Online Mendelian Inheritance in Man (OMIM).
| Rank | Gene | log 2FC | Fold change |
OMIM gene | Clinical condition (monogenic) |
|---|---|---|---|---|---|
| 1 | CYP17A1 | 7.91 | 240.2 | 609300 | Congenital adrenal hyperplasia (due to 17 α-hydroxylase deficiency) |
| 2 | CYP11A1 | 6.85 | 115.4 | 118485 | Congenital adrenal hyperplasia (due to CYP11A1/ P450scc deficiency) |
| 3 | SULT2A1 | 6.60 | 97.3 | - | |
| 4 | STAR | 6.20 | 73.4 | 600617 | Congenital lipoid adrenal hyperplasia; Familial glucocorticoid deficiency type 3 |
| 5 | MC2R | 5.96 | 62.3 | 607397 | Familial glucocorticoid deficiency, type 1 |
| 6 | CYP11B1 | 5.58 | 47.8 | 610613 | Congenital adrenal hyperplasia (due to 11 β-hydroxylase deficiency) |
| 7 | MGARP | 5.21 | 37.1 | - | |
| 8 | GSTA1 | 5.15 | 35.5 | - | |
| 9 | MAP3K15 | 5.11 | 34.5 | - | |
| 10 | NPR3 | 4.62 | 24.6 | - | |
| 11 | ASB4 | 4.60 | 24.3 | - | |
| 12 | HPGD | 4.46 | 22.0 | 601688 | Cranioosteoarthropathy; Primary hypertrophic osteoarthropathy type 1 |
| 13 | GNRHR | 4.43 | 21.6 | 138850 | Hypogonadotropic hypogonadism |
| 14 | C7 | 4.34 | 20.3 | 217070 | C7 (complement) deficiency |
| 15 | SERPINA5 | 4.26 | 19.2 | - | |
| 16 | FDX1P1 | 4.26 | 19.1 | - | |
| 17 | SCARB1 | 4.15 | 17.8 | 601040 | High-density lipoprotein elevation |
| 18 | NRK | 4.09 | 17.1 | - | |
| 19 | CYP21A2 | 4.09 | 17.1 | 613815 | Congenital adrenal hyperplasia (due to 21-hydroxylase deficiency) |
| 20 | FDX1 | 4.03 | 16.3 | - | |
| 21 | PAPSS2 | 4.00 | 16.0 | 603005 | Brachyolmia type 4 with mild epiphyseal and metaphyseal changes, adrenal hyperandrogenism |
| 22 | DHCR24 | 4.00 | 15.9 | 606418 | Desmosterolosis |
| 25 | TDGF1 | 3.96 | 15.6 | 187395 | Forebrain defects |
| 36 | INHA | 3.67 | 12.8 | 147380 | Adrenocortical carcinoma (paediatric) |
| 43 | APOA1 | 3.42 | 10.7 | 107680 | Apoplipoprotein A-I deficiency |
| 46 | SAMD9 | 3.34 | 10.2 | 610456 | MIRAGE syndrome (includes growth restriction, adrenal hypoplasia, testicular dysfunction) |
| 49 | NR0B1 (DAX-1) |
3.25 | 9.5 | 300473 | X-linked adrenal hypoplasia congenita |
| 50 | HSD3B2 | 3.19 | 9.1 | 613890 | Congenital adrenal hyperplasia (due to 3 β-hydroxysteroid dehydrogenase deficiency type 2) |
| 60 | NR5A1 (SF-1) | 2.96 | 7.8 | 184757 | DSD (testicular dysgenesis/impaired testosterone synthesis) +/- adrenal insufficiency |
| 72 | LDLR | 2.81 | 7.0 | 600694 | Familial hypercholesterolaemia |
| 77 | AMHR2 | 2.73 | 6.7 | 600956 | Persistent Müllerian duct syndrome, type 2 |
| 105 | POR | 2.53 | 5.8 | 124015 | P450 oxidoreductase deficiency/Antley-Bixler syndrome |
| 117 | MRAP | 2.43 | 5.4 | 615410 | Familial glucocorticoid deficiency, type 2 |
| 142 | NPC1 | 2.31 | 5.0 | 607623 | Niemann-Pick disease type C1 |