Common Variants of the EPDR1 Gene and the Risk of Dupuytren's Disease

Abstract

The object of this study was the investigation of 3 common variants of single nucleotide polymorphisms of the ependymin-related gene 1 and its association with the occurrence of Dupuytren's disease. DNA samples were obtained from the peripheral blood of 508 consecutive patients. The control group comprised 515 healthy adults who were age-matched with the Dupuytren's patients. 3 common variants were analysed using TaqMan® genotyping assays and sequencing. The differences in the frequencies of variants of single nucleotide polymorphisms in patients and the control group were statistically tested. Additionally, haplotype frequency and linkage disequilibrium were analysed for these variants. A statistically significant association was noted between rs16879765_CT, rs16879765_TT and rs13240429_AA variants and Dupuytren's disease. 2 haplotypes: rs2722280_C+rs13240429_A+rs16879765_C and rs2722280_C+rs13240429_G+rs16879765_T were found to be statistically significantly associated with Dupuytren's disease. Moreover, we found that rs13240429 and rs16879765 variants were in strong linkage disequilibrium, while rs2722280 was only in moderate linkage disequilibrium. No significant differences were found in the frequencies of the variants of the gene between the groups with a positive and negative familial history of Dupuytren's disease. In conclusion, results of this study suggest that EPDR1 gene can be added to a growing list of genes associated with Dupuytren's disease development.

EPDR1 correlates with immune cell infiltration in hepatocellular carcinoma and can be used as a prognostic biomarker

“…[14][15][16][17][18] The function of EPDR1 is not well known, although several studies have reported its differential expression and single-nucleotide polymorphisms associated with its locus in different pathological and developmental processes, which are known to affect the cell adhesion. [19][20][21][22][23][24] Furthermore, genetic variants in EPDR1 have been reported to be linked to several diseases, including Dupuytren's disease 21,25,26 and primary angle closure glaucoma 23,27 ; however these observations do not provide obvious insight into the molecular functions of the protein. In 2016, Valiente et al reported that EPDR1 and its spliced isoforms are differentially expressed in human CRC cell lines, and the up-regulation of EPDR1 in human colorectal cancer was reported to promote cell growth, proliferation, and invasiveness.…”

EPDR1 correlates with immune cell infiltration in hepatocellular carcinoma and can be used as a prognostic biomarker

“…The function of EPDR1 is not well known, although several studies have reported its differential expression and single-nucleotide polymorphisms associated with its locus in different pathological and developmental processes, which are known to affect the cell adhesion [19][20][21][22][23][24]. Furthermore, genetic variants in EPDR1 have been reported to be linked to several diseases, including Dupuytren's disease [21,25,26] and primary angle closure glaucoma [23,27], however these observations do not provide obvious insight into the molecular functions of the protein. In 2016 F. Valiente et al reported that EPDR1 and its spliced isoforms are differentially expressed in human CRC cell lines, and the up-regulation of EPDR1 in human colorectal cancer was found to promote cell growth, proliferation, and invasiveness [28].…”

Aging Fibroblasts Adversely Affect Extracellular Matrix Formation via the Senescent Humoral Factor Ependymin-Related Protein 1

“…In particular, there are metabolic abnormalities in the deposition of extracellular matrix proteins (especially collagen) and the presence of contractile myofibroblasts [ 13 ]. Genetic analysis of Dupuytren’s contracture revealed a marked elevation of ependymin-related protein 1 (EPDR1) gene expression [ 14 ], which reportedly contributes to excessive collagen contractility and fibroblast abnormalities [ 15 ].…”