It was also revealed that the IL6R rs2228145 polymorphism can interact with the previously described COL5A1 (Burger et al., 2015b) and BGN (Burger et al., 2014) risk variants of CTS (Burger et al., 2015a).
Moreover, this study explored possible gene-gene interactions between COL5A1 rs12722 T/C, IL1B rs16944 C/T, IL6 rs1800795 G/C, IL6R rs2228145 A/C polymorphisms and described a specific haplotype allele combination that plays a role in the etiology of ACL injuries in South African Caucasian participants: the T-C-G-A inferred allele combination was significantly associated with increased risk of injury (Rahim et al., 2017).
Human fibroblasts with mutations in COL5A1
and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha2beta1 integrin, and recruit alphavbeta3 Instead of alpha5beta1 integrin.
The module-related DEGs in the PI3K/Akt (namely, LPAR1, COL5A1, and COL6A2) and TNF signaling pathway (termly CXCL1, CXCL2, and CXCL3) were selected to investigate the effect of melittin on them in BC cells.
Ulteriorly, fifteen module-related DEGs were obtained according to PPI network and modular analyses with a score no less than 4, namely, CXCL2, CXCL1, BDKRB1, LPAR1, CXCL3, FYN, COL6A2, COL18A1, COL13A1, COL5A1, TUBA1A, FDFT1, SQLE, LSS, and CDK9.
The primary objective of our study was to determine whether COL3A1 rs1800255 and COL12A1 rs970547, like COL5A1 rs12722 and COL6A1 rs3579 6750, are associated with athletic endurance performance in the participants of four SA Ironman triathlon events.
We hypothesised that the G+A pseudo-haplotype is associated with improved endurance performance, and that the COL5A1 rs12722 T and COL6A1 rs35796750 T alleles, if included in gene-gene interactions with COL3A1 rs1800255 and COL12A1 rs970547, contributes to interactions for endurance running and cycling, respectively.
V (2017) Polymorphisms within the COL5A1 gene and regulators of the extracellular matrix modify the risk of Achilles tendon pathology in a British case-control study.
(2009) Variants within the MMP3 gene are associated with Achilles tendinopathy: possible interaction with the COL5A1 gene.
The objective of this study was therefore to further examine the age- and sex-related changes in the COL5A1
BstUI RFLP genotype frequency among the combined asymptomatic participants.
Our PCR array data revealed an upregulation of many of the collagen family genes such as COL141, COL1A1, COL1A2, COL3A1, COL41, COL4A3, and COL5A1
in the ischemic WJ-MSCs as compared to control cells.
In both animal models and human AAA tissue samples, miR-29b appears to target genes that encode extracellular matrix proteins including Col1a1, Col3a1, Col5a1
, and ELN as well as matrix metalloproteinases (i.e., MMP9).