Table 1.
Characteristics of the whole genome/proteome studies of POP.
| Dataset | Number of samples (age/MP status) | Analysis | DEG (DEP) | Main findingsa | Confirmation of whole genome/proteome data | Reference |
|---|---|---|---|---|---|---|
| Pubococcygeus muscle in Caucasian POP patients and mixed ethnicity controls | 5 cases (58.9 ± 5.5); 5 controls (45.5 ± 11.4) | Microarray gene expression | Down-regulation in POP patients: FC > 2.0, 257 genes; FC > 5, 20 genes; FC > 10, 3 genes. Up-regulation in POP patients: FC > 2.0, 479 genes; FC > 5, 18 genes; FC > 10, 2 genes. | The genes MYBPH (FC 24.7), MYH3 (FC 17.4) and COMP (FC 6.0) were down-regulated, while smooth muscle myosin heavy chain (FC 11.8), MLCK (FC 5.77) and TNC (FC 5.1) genes were up-regulated in POP patients in comparison with controls. | No | 10 |
| Full-thickness vaginal wall biopsies from patients with POP and age-, parity -, and body mass index -matched controlsb | 5 PrM cases, 5 PrM controls | Microarray gene expression | Upregulated genes (n = 50) comprised those involved in smooth muscle contraction, proteolysis, response to oxidative stress, transcriptional regulation, cytoskeletal organization, and lipid catabolism. | The PPP1R12A and ADAMTS1 genes were up-regulated 2.4 and 4-fold in cases compared to controls. | mRNA analysis for 4 matched pairs of POP/control tissues | 12 |
| USLs and RLs from mixed ethnicity patients with uterine prolapse (POP-Q stage ≥ 2) and controls | 8 POP patients (5 PrM and 3 PM); 9 controls (6 PrM and 3 PM) | Microarray gene expression | In a combined analysis of expression changes in USLs and RLs, 1521 genes were up-regulated and 1193 genes were down-regulated with FC change 1.5. 249 up-regulated gene probes met FDR criteria ≤ 5.18. | After FDR correction for multiple testing, genes enriched for ‘immunity and defense’ were up-regulated in POP patients. | qRT-PCR Up-regulation in POP patients: IL-6 (FC 9.8), ATF3 (FC 2.6), THBS1 (FC 3.5) and PTGS2 (FC 2.4) | 13 |
| Pubocervical fascia from females with POP and SUI and from asymptomatic controlsb | 4 cases (PM); 3 controls (PM) | Proteomic analysis (two-dimensional electrophoresis and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry) | 7 proteins with an expression FC more than two (3.8 ─ 54.3-fold). | The expression levels of transgelin (FC 54.3), smooth muscle gamma-actin (FC 6.3), myosin light polypeptide 6 (FC 4.4), and alpha-1 antitrypsin precursor (FC 4.3) were higher in patients than in controls. | 2-DE western blot analysis for transgelin | 11 |
| USLs from Asian women with POP-Q stage 3-4 (cases) or 0-1 (controls) | 12 cases (PM), 5 controls (PM) | Microarray gene expression | 143 genes were up-regulated and 87 genes were down-regulated with FC > 1.5 (P < 0.05). | The expression levels of ESRRA (FC 0.434) decreased, while the expression levels of DAPK2 (FC 2.013), IL15 (FC 2.1) and STAP2 (FC 2.392) increased in POP patients compared with controls. | qRT-PCR for the genes ESRRA, DAPK2, IL15, STAP2 | 14 |
| USLs from patients with uterine prolapse and controlsb | 16 POP patients (15 patients PM); 9 controls (7 females PM) | Microarray gene expression | 21 up-regulated and 7 down-regulated genes with FC > 2.0 were found in patients with POP compared to the control group. | Down-regulation in POP patients compared with controls after FDR correction for multiple testing: NKX2-3 (FC 2.6) in the whole set; KIF11 (FC 1.3) in patients with ≥ 3 deliveries compared to patients with < 3 deliveries; UGT1A1 (FC 1.4), SCARB1 (FC 3.2) and NKX2-3 (FC 6.2) in PrM patients compared to PrM controls; UGT1A1 (FC 1.1) in PM patients compared to PM controls. | No | 15 |
| USL samples of patients with stage II to stage IV POP (mean age 61 years) and normal controls (mean age 55 years)b | No data | RNA-seq (a HiSeqTM 2500 platform (Illumina)) | After FDR-correction, a total of 81 genes had different expression patterns in POP patients and controls. Sixty-six DEGs did not differ between the POP samples with different stages | Canonical Wnt receptor signaling pathway was the most significantly enriched GO term (P- value = 3.33E-07), and neuroactive ligand-receptor interaction was the most significantly enriched pathway (P- value = 1.24E-03). | No | 16 |
aData are uncorrected for multiplicity, otherwise specified. bEthnicity is not specified.
Abbreviations: DEG, differently expressed genes; DEP, differently expressed proteins; FC, fold change; FDR, false discovery rate; PM, postmenopausal; PrM, premenopausal; RLs, round ligaments; SUI, stress urinary incontinence; USLs, uterosacral ligaments.