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...
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Veröffentlicht in: | Genes 2022-04, Vol.13 (5), p.743 |
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Zusammenfassung: | (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. |
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ISSN: | 2073-4425 2073-4425 |
DOI: | 10.3390/genes13050743 |