Table 3.
Differential mRNA expression in whole blood from MR patients.
| Missense change | Truncating mutation | |||||
|---|---|---|---|---|---|---|
| Symbol | Sequence ID | Ratioa | Significanceb | Ratioa | Significancec | |
| CETPd | cholesteryl ester transfer protein, plasma | NM_000078.1 | ND | ND | ||
| CD55e | decay accelerating factor for complement | NM_000574.2 | 7.50 | ** | 1.00 | NS |
| CMKOR1f | chemokine orphan receptor 1 | NM_020311.1 | 6.30 | *** | 3.40 | *** |
| EMILIN2 | elastin microfibril interfacer 2 | NM_032048.1 | 1.18 | NS | 0.82 | NS |
| HSPA1Be | heat shock 70 kDa protein 1B | NM_005346.3 | 2.71 | * | 1.34 | NS |
| KDM5Bf | lysine (K)-specific demethylase 5B | NM_006618.2 | 3.74 | *** | 1.58 | * |
| KIAA0469f | KIAA0469 | XM_375685.1 | 3.22 | *** | 2.04 | ** |
| MGC20983d | hypothetical protein LOC115948 | NM_145045.3 | ND | ND | ||
| MKNK2e | MAP kinase-interacting serine/threonine kinase 2 | NM_017572.2 | 3.65 | *** | 1.27 | NS |
| MYC | myc proto-oncogene protein | NM_002467.2 | 1.20 | NS | 0.75 | NS |
| SLAMF6 | activating NK receptor precursor | NM_052931.3 | 1.09 | NS | 1.08 | NS |
| TNFSF4e | tumor necrosis factor (ligand) superfamily | NM_003326.2 | 1.66 | * | 0.99 | NS |
ND: Not determined; NS: Not significant; *: P < 0.05; **: P < 0.01; ***: P < 0.001
a) Ratio was calculated as the mean expression from affected in the family divided by mean control expression
b) Level of significance was calculated by students' t-test using expression data from patients with missense a change (n = 2) and controls (n = 5)
c) Level of significance was calculated by students' t-test using expression data from patients premature termination (n = 2) and controls (n = 5)
d)Genes with too low expression for reliable QRT-PCR evaluation
e) Genes significantly deregulated in missense change carriers
f) 3 genes that are significantly deregulated in affected from both families are marked in bold