Evaluation of WNT Signaling Pathway Gene Variants <i>WNT7B</i> rs6519955, <i>SFRP4</i> rs17171229 and <i>RSPO2</i> rs611744 in Patients with Dupuytren’s Contracture

• Main Authors: Gediminas Samulėnas, Alina Smalinskienė, Rytis Rimdeika, Kęstutis Braziulis, Mantas Fomkinas, Rokas Paškevičius
• Format: Article
• Language: English
• Published: MDPI AG 2021-08-01
• Series: Genes
• Subjects: WNT signaling pathway; Dupuytren’s contracture; single-nucleotide polymorphism
• Online Access: https://www.mdpi.com/2073-4425/12/9/1293

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 (<i>WNT7B)</i> rs6519955 (G/T), Secreted Frizzled Related Protein 4 (<i>SFRP4</i>) rs17171229 (C/T) and R-spondin 2 (<i>RSPO2)</i> 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 <i>WNT7B</i> rs6519955, <i>SFRP4</i> rs17171229 and <i>RSPO2</i> rs611744 was performed using the Real-Time PCR System 7900HT from Applied Biosystems. <i>WNT7B</i> rs6519955 genotype TT carriers were found to possess a higher prevalence of DC (OR = 3.516; CI = 1.624–7.610; <i>p</i> = 0.001), whereas <i>RSPO2</i> rs611744 genotype GG appears to reduce the likelihood of the manifestation of DC nearly twofold (OR = 0.484, CI = 0.258–0.908, <i>p</i> = 0.024). In conclusion, SNPs <i>WNT7B</i> rs6519955 and <i>RSPO2</i> rs611744 are associated with the development of Dupuytren’s contracture: <i>WNT7B</i> rs6519955 TT genotype increases the chances by 3.5-fold, and <i>RSPO2</i> 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 <i>SFRP4</i> rs17171229 is not significantly associated with development of the disease.