| Domain | Finding (with numbers) | Population/study design | Publication date | URL | PMID | Evidence IDs |
|---|---|---|---|---|---|---|
| Epidemiology / demographics | Prevalence reported at ~3%–6% in people of European ancestry; men are 2–7 times more likely to be affected; onset usually after age 40; up to 20% of men >60 years may be affected | Narrative review of current literature | 2024-12 | https://doi.org/10.7759/cureus.74945 |  | (pqac-00000002, pqac-00000042) |
| Epidemiology / ancestry | Prevalence estimates in a 2023 meta-analysis of 3 biobanks: 0.73% (95% CI 0.72–0.75%) in primarily European ancestry vs 0.13% (95% CI 0.12–0.14%) in primarily African ancestry; authors note up to ~30% of men over 60 in northern Europe | Meta-analysis of 3 biobanks; 7,871 cases, 645,880 controls | 2023-06 | https://doi.org/10.1093/molbev/msad130 |  | (pqac-00000012, pqac-00000009) |
| Epidemiology / range in literature | Reported prevalence ranges widely from 2% to 42%, increasing with age and higher in males and Northern European populations | Systematic review/meta-analysis of treatment studies | 2024-01 | https://doi.org/10.7759/cureus.53147 |  | (pqac-00000004, pqac-00000041) |
| Healthcare burden | In England Hospital Episode Statistics, 75,157 admissions were recorded over 5 years (64,506 analyzed), averaging 12,901 admissions/year | Retrospective administrative database analysis (England NHS HES) | 2011-04 | https://doi.org/10.1186/1471-2474-12-73 |  | (pqac-00000039, pqac-00000040) |
| Healthcare burden / utilization | Day-case management increased from 42% to 62% between 2003–2004 and 2007–2008; mean inpatient stay fell from 1.48±1.4 to 1.03±1.2 days; repeat admissions rose from 5.5% to 26.1% | Retrospective administrative database analysis (England NHS HES) | 2011-04 | https://doi.org/10.1186/1471-2474-12-73 |  | (pqac-00000039, pqac-00000040) |
| Healthcare burden / costs | Estimated NHS costs for 2010–2011 were £41,576,141; mean per-patient costs £2,885 (day case) and £3,534 (inpatient); procedure-specific costs ranged £2,736–£9,210 | Retrospective administrative database analysis (England NHS HES) | 2011-04 | https://doi.org/10.1186/1471-2474-12-73 |  | (pqac-00000039, pqac-00000040) |
| Genetic architecture | Largest recent DD meta-GWAS analyzed 11,320 cases and 47,023 controls across 8,123,121 variants; identified 85 genome-wide significant SNPs in 56 loci, including 11 novel loci and 24 secondary hits in 12 known loci | GWAS meta-analysis | 2024-01 | https://doi.org/10.1038/s41467-023-44451-0 |  | (pqac-00000011, pqac-00000013) |
| Genetic architecture | Polygenic risk scores/loci explained 13.3%–38.1% of disease variance across cohorts; prior known variants explained ~11.3%; broad-sense heritability estimated at ~80%, with ~67% attributable to common variants | GWAS meta-analysis with PRS; background synthesis from prior genetic studies | 2024-01 | https://doi.org/10.1038/s41467-023-44451-0 |  | (pqac-00000011, pqac-00000013) |
| Genetic architecture / pathways | Gene prioritization implicated Hedgehog and Notch signaling; enrichment also highlighted TGF-β signaling, epithelial cell migration, and cell–matrix adhesion; fibroblasts and myofibroblasts were the most implicated cell populations | GWAS meta-analysis with bioinformatic follow-up | 2024-01 | https://doi.org/10.1038/s41467-023-44451-0 |  | (pqac-00000011, pqac-00000013, pqac-00000035) |
| Genetic architecture / genes | Prioritized genes included TNC, AFAP1, CHSY1, NEDD4, CFDP1; deleterious nonsynonymous variants were highlighted in TMEM81, DSTYK, MMP14, and LDHAL6B | GWAS meta-analysis with fine-mapping and annotation | 2024-01 | https://doi.org/10.1038/s41467-023-44451-0 |  | (pqac-00000011, pqac-00000013) |
| Genetic architecture / Neandertal loci | Meta-analysis identified 61 genome-wide significant loci; 3 loci harbor Neandertal-derived alleles. Carrying all 3 Neandertal risk alleles gave combined OR 2.83 (95% CI 2.62–3.05), explaining ~8.4% of heritability attributable to the 61 hits | Meta-analysis of 3 biobanks | 2023-06 | https://doi.org/10.1093/molbev/msad130 |  | (pqac-00000009, pqac-00000012) |
| Genetic architecture / specific variants | Key Neandertal-tagged variants included rs17171240 (P=6.4×10^-132), rs652483 (P=9.2×10^-69), rs34017855 (P=1.1×10^-8); strongest Neandertal signal implicated EPDR1 with altered splicing in muscle, adipose, and fibroblasts | Meta-analysis of 3 biobanks with functional follow-up | 2023-06 | https://doi.org/10.1093/molbev/msad130 |  | (pqac-00000009, pqac-00000012) |
| Genetic architecture / earlier integrative genomics | Integrative TWAS based on 3,871 cases and 4,686 controls identified 43 tissue-specific gene associations and confirmed significant genetic correlations with BMI, type 2 diabetes, triglycerides, and HDL; strongest earlier GWAS hit was rs16879765 in EPDR1 (P=7.2×10^-41) | GWAS/TWAS integrative analysis | 2019-05 | https://doi.org/10.1002/gepi.22209 |  | (pqac-00000008, pqac-00000050) |
| Environmental / lifestyle risk factors | Established non-genetic risks repeatedly cited include advanced age, male sex, cigarette smoking, heavy alcohol consumption, diabetes, and manual work exposure | Review and GWAS background synthesis | 2024-01 to 2024-12 | https://doi.org/10.1038/s41467-023-44451-0 ; https://doi.org/10.7759/cureus.74945 |  | (pqac-00000048, pqac-00000042) |
| Environmental / occupational quantified effects | Smoking increased risk ~2.084-fold; manual labor ~2.6-fold; hard manual labor may require ~10 years to produce disease manifestation | Case-control genetic association study | 2022-04 | https://doi.org/10.3390/genes13050743 |  | (pqac-00000043, pqac-00000044) |
| Gene–environment interaction | Smoking plus manual labor yielded a 13.2-fold higher incidence versus neither exposure; adding the MMP14 rs1042704 minor A allele increased likelihood to ~14-fold | Case-control genetic association study with risk-factor analysis | 2022-04 | https://doi.org/10.3390/genes13050743 |  | (pqac-00000043, pqac-00000044) |
| Genetic susceptibility polymorphisms | CHST6 rs977987 minor T allele associated with risk (~1.404-fold per minor allele; TT genotype ~1.7× more likely); MMP14 rs1042704 AA genotype associated with earlier onset and ~2.16-fold increased odds; MMP8 rs11225395 not significant | Case-control genetic association study | 2022-04 | https://doi.org/10.3390/genes13050743 |  | (pqac-00000043, pqac-00000044) |
| Family history / heredity | Positive family history increased risk ~2.5-fold and was associated with earlier onset; genetic factors were estimated to account for ~80% of causation in cited background literature | Case-control study with literature context | 2022-04 | https://doi.org/10.3390/genes13050743 |  | (pqac-00000043, pqac-00000044) |
| Correlated metabolic traits | DD showed significant genetic correlation with frozen shoulder (r=0.30, p=1.9×10^-6), BMI (r=-0.14, p=1.2×10^-8), and HDL (r=0.12, p=3.6×10^-5); lower BMI appears associated with higher DD risk | GWAS meta-analysis | 2024-01 | https://doi.org/10.1038/s41467-023-44451-0 |  | (pqac-00000013, pqac-00000048) |
| Prognosis / recurrence tendency | Younger age and strong family history are associated with more aggressive progression and higher recurrence after treatment | Narrative review | 2024-12 | https://doi.org/10.7759/cureus.74945 |  | (pqac-00000042) |
| Prognosis / mortality | In the retrieved evidence set used for this artifact, robust mortality statistics were not directly extractable from full-text evidence; administrative HES data reported 67 deaths (<1%) during admissions but no long-term disease-specific mortality estimate | Administrative database analysis | 2011-04 | https://doi.org/10.1186/1471-2474-12-73 |  | (pqac-00000040) |


*Table: This table summarizes high-value evidence on Dupuytren disease epidemiology, healthcare burden, genetic architecture, environmental risk factors, and prognosis. It is useful as a compact evidence map with quantitative findings, study design context, and citation-ready source links.*