Evaluation of WNT Signaling Pathway Gene Variants WNT7B rs6519955, SFRP4 rs17171229 and RSPO2 rs611744 in Patients with Dupuytren's Contracture.

Dupuytren's contracture (DC) represents a chronic fibroproliferative pathology of the palmar aponeurosis, which leads to flexion contractures of finger joints and hand disability. In recent decades, the WNT signaling pathway has been revealed to play a significant role in the manifestation and pathogenesis of DC. Our study aimed to evaluate the associations between Dupuytren's contracture and WNT-related single-nucleotide polymorphisms: Wnt Family Member 7B (WNT7B) rs6519955 (G/T), Secreted Frizzled Related Protein 4 (SFRP4) rs17171229 (C/T) and R-spondin 2 (RSPO2) rs611744 (A/G). We enrolled 216 patients (113 DC cases and 103 healthy controls), and DNA samples were extracted from the peripheral blood. Genotyping of WNT7B rs6519955, SFRP4 rs17171229 and RSPO2 rs611744 was performed using the Real-Time PCR System 7900HT from Applied Biosystems. WNT7B rs6519955 genotype TT carriers were found to possess a higher prevalence of DC (OR = 3.516; CI = 1.624-7.610; p = 0.001), whereas RSPO2 rs611744 genotype GG appears to reduce the likelihood of the manifestation of DC nearly twofold (OR = 0.484, CI = 0.258-0.908, p = 0.024). In conclusion, SNPs WNT7B rs6519955 and RSPO2 rs611744 are associated with the development of Dupuytren's contracture: WNT7B rs6519955 TT genotype increases the chances by 3.5-fold, and RSPO2 rs611744 genotype GG appears to attenuate the likelihood of the manifestation of DC nearly twofold. Findings of genotype distributions among DC patients and control groups suggest that SFRP4 rs17171229 is not significantly associated with development of the disease.

Dupuytren's Contracture: Incidence of Injury-Induced Cases and Specific Clinical Expression.

Background and objectives: Dupuytren's contracture is a chronic fibroproliferative hand disorder with a varying pattern of genetic predisposition across different regions and populations. Traumatic events have been found to have influence on the development of this illness and are likely to trigger different clinical forms of this disease. The aim of this study was to evaluate the phenomenon of development of Dupuytren's contracture (DC) following an acute injury to the hand, and to observe the incidence and clinical diversity of such cases in daily clinical practice. Materials and Methods: We collected data of patients presenting with primary Dupuytren's contracture in the Lithuanian population and evaluated the occurrence and clinical manifestation of this specific type of DC, arising following acute hand trauma. The diagnosis of DC was based on clinical signs and physical examination. Digit contractures were measured by goniometry, and the staging was done according to Tubiana classification. Injury-induced (injury-related) cases were identified using the "Criteria for recognition of Dupuytren's contracture after acute injury" (established by Elliot and Ragoowansi). Results: 29 (22%) of a total of 132 cases were injury-induced DCs. Twenty-six of 29 patients in this group presented with stage I-II contractures. Duration of symptoms was 6 (SD 2.2) and 3.8 (SD 2.2) years in the injury-related and injury-unrelated DC groups, respectively. Mean age on the onset of symptoms in the injury-induced and non-injury-induced groups was 52 (SD 10.7) and 56 (SD 10.9), respectively. Patients from both groups expressed strong predisposition towards development of DC. Conclusions: Around one-fifth of patients seeking treatment for primary Dupuytren's contracture seemed to suffer from injury-induced Dupuytren's contracture. We noted that injury to the wrist and hand seems to trigger the development of less progressive Dupuytren's contracture in younger age. Prospective randomized studies are required to confirm our findings.