Connective tissue research · 2026
Investigating the genetic basis of fibrotic pathway dysregulation in Dupuytren's contracture.
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Vilkeviciute-Petraite Alvita, Basalykiene Dovile, Baltakyte Migdolija, Kunceviciene Edita, Pileckaite Enrika, Samulenas Gediminas, Smalinskiene Alina
Аннотация
PURPOSE: Dupuytren's contracture (DC) is a common fibroproliferative disorder with strong genetic predisposition. This study aimed to investigate the association between genetic variants in key fibrotic pathways and DC susceptibility in a Lithuanian population.
MATERIALS AND METHODS: We conducted a case-control study including 116 patients with DC and 103 healthy controls. Genotyping of four single nucleotide polymorphisms (SNPs) involved in fibrotic pathway regulation was performed: COL1A1 rs1800012, TAB2 rs2179367, SFRP4 rs1668357, and SFRP4 rs1668347.
RESULTS: The COL1A1 rs1800012 A allele demonstrated a significant protective effect against DC (OR = 0.584; 95% CI: 0.350-0.973; p = 0.039), with the strongest association observed in the dominant model (CA + AA vs. CC: OR = 0.521; 95% CI: 0.286-0.951; p = 0.034). Conversely, the SFRP4 rs1668347 C allele was associated with increased DC risk (OR = 1.831; 95% CI: 1.126-2.976; p = 0.015), with significant associations in codominant (AC vs. AA: OR = 2.203; p = 0.007), dominant (AC + CC vs. AA: OR = 2.162; p = 0.007), and overdominant (AC vs. AA + CC: OR = 2.105; p = 0.010) models. No significant associations were found for the other investigated SNPs.
CONCLUSIONS: Our findings support the involvement of collagen metabolism and Wnt signaling in DC pathogenesis. The protective effect of COL1A1 rs1800012 and the risk-enhancing effect of SFRP4 rs1668347 provide additional insights into the genetic basis of DC and may contribute to the development of predictive tools and targeted therapies for this debilitating condition.
MATERIALS AND METHODS: We conducted a case-control study including 116 patients with DC and 103 healthy controls. Genotyping of four single nucleotide polymorphisms (SNPs) involved in fibrotic pathway regulation was performed: COL1A1 rs1800012, TAB2 rs2179367, SFRP4 rs1668357, and SFRP4 rs1668347.
RESULTS: The COL1A1 rs1800012 A allele demonstrated a significant protective effect against DC (OR = 0.584; 95% CI: 0.350-0.973; p = 0.039), with the strongest association observed in the dominant model (CA + AA vs. CC: OR = 0.521; 95% CI: 0.286-0.951; p = 0.034). Conversely, the SFRP4 rs1668347 C allele was associated with increased DC risk (OR = 1.831; 95% CI: 1.126-2.976; p = 0.015), with significant associations in codominant (AC vs. AA: OR = 2.203; p = 0.007), dominant (AC + CC vs. AA: OR = 2.162; p = 0.007), and overdominant (AC vs. AA + CC: OR = 2.105; p = 0.010) models. No significant associations were found for the other investigated SNPs.
CONCLUSIONS: Our findings support the involvement of collagen metabolism and Wnt signaling in DC pathogenesis. The protective effect of COL1A1 rs1800012 and the risk-enhancing effect of SFRP4 rs1668347 provide additional insights into the genetic basis of DC and may contribute to the development of predictive tools and targeted therapies for this debilitating condition.