The Role of Functional Polymorphisms in the Extracellular Matrix Modulation-Related Genes on Dupuytren's Contracture.

(1) Background: genetic variations, localized in the functional regions of the extracellular matrix (ECM) modulation-related genes, may alter the transcription process and impact the Dupuytren's contracture (DC). The present study investigated the association of single nucleotide polymorphisms (SNPs), localized in the functional regions of the , , and genes, with DC risk. (2) Methods: we enrolled 219 genomic DNA samples, which were extracted from 116 patients with DC and 103 healthy controls. Genotyping of selected SNPs was performed using TaqMan single nucleotide polymorphisms genotyping assay. Three polymorphisms ( rs11225395, rs1042704, and rs977987) were analyzed. All studied SNPs were in Hardy-Weinberg equilibrium. (3) Results: significant associations of the studied SNPs with the previous onset of the disease were observed between the rs977987 minor T allele ( = 0.036) and the rs1042704 mutant AA genotype ( = 0.024). Significant associations with the previous onset of the disease were also observed with a positive family history of the DC ( = 0.035). Moreover, risk factor analysis revealed that a combination of major disease risk factors (smoking and manual labor) and the minor A allele increases the risk of DC development by fourteen times ( = 0.010). (4) Conclusions: our findings suggest that rs977987, rs1042704, and positive family history are associated with the previous onset of Dupuytren's contracture. In addition, the combination of the minor A allele and additional risk factors increase the likelihood of the manifestation of the DC.