Abstract
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.
Highlights
Dupuytren’s contracture (DC) represents a chronic fibroproliferative pathology of the palmar aponeurosis, which leads to flexion contractures of finger joints and hand disability
Genotype frequencies did not deviate from the Hardy– Weinberg equilibrium (HWE) (p > 0.05)
We found statistically significant differences in distributions of Wnt Family Member 7B (WNT7B) rs6519955 and R-spondin 2 (RSPO2) rs611744 gene profiles between the DC group and healthy controls (Table 2)
Summary
Dupuytren’s contracture (DC) represents a chronic fibroproliferative pathology of the palmar aponeurosis, which leads to flexion contractures of finger joints and hand disability. The link between Dupuytren’s contracture and WNT signaling pathway was determined by locating abundant levels of β-catenin in the palmar fibro-aponeurotic tissue—the histological sequel of DC [11,12]. SNPs from six loci (WNT2 (rs4730775) (p = 3.0 × 10−8; OR, 0.83), WNT4 (rs7524102) (p = 2.8 × 10−9; OR, 1.28), SFRP4 (rs16879765) (p = 5.6 × 10−39; OR, 1.98), SULF1 (rs2912522) (p = 2.0 × 10−13; OR, 0.72), RSPO2 (rs611744) (p = 7.9 × 10−15; OR, 0.75) and WNT7B (rs6519955) (p = 3.2 × 10−33; OR, 1.54), harboring genes linked to the WNT signaling pathway, were discovered in a genome-wide association study by Dolmans et al, directly proving the association between Dupuytren’s contracture and this complex biosignaling system [4]. These results were later further endorsed and supplemented by Becker et al, providing even more WNT-related genes involved in the pathogenesis of DC [5]
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