Apoptosis-related Fas and FasL gene polymorphisms’ associations with knee osteoarthritis

Abstract

To investigate the associations between Fas and FasL gene polymorphisms and susceptibility to knee osteoarthritis. Genomic DNA was obtained from 146 patients with knee osteoarthritis and 102 healthy controls. Genotype distributions and allelic frequencies of four polymorphisms of Fas (-670 G>A rs1800682, -1377 G>A rs2234767) and FasL (IVS2nt-124 A>G rs5030772, -844 T>C rs763110) genes were compared between the groups. Thereafter, this association was investigated between patients and controls of the same sex. There were significant differences between patients with knee osteoarthritis and controls regarding the genotype distributions and allelic frequencies of Fas-1377 G>A polymorphism (P = 0.0001 and P = 0.005, respectively). The Fas-1377 GG genotype and G allele were significantly more frequent in patients with knee osteoarthritis than in controls. Genotype distributions and allelic frequencies of Fas-670 G>A, FasL-844 T>C, and FasL IVS2nt-124 A>G polymorphisms did not differ between the groups (P > 0.05). However, there were no significant differences between patients and controls of the same sex (P > 0.05). These findings suggest that the Fas-1377 G>A polymorphism in the Fas gene related with apoptosis may contribute to susceptibility to knee osteoarthritis in the Turkish population. There is a need for further studies to evaluate the role of apoptosis in large cohorts.

Shikonin inhibits inflammation and chondrocyte apoptosis by regulation of the PI3K/Akt signaling pathway in a rat model of osteoarthritis

“…In normal circumstances, the proliferation and apoptosis of articular cartilage cells are in dynamic equilibrium, which keeps the cell number, morphology and function of the articular cartilage generally stable; excessive apoptosis is pathological and harmful (31). Chondrocyte apoptosis has been confirmed to occur in articular cartilage affected by osteoarthritis (32). In addition, the excessive apoptosis of cartilage cells is considered to be one of the pathological factors in the…”

The effects of polymorphisms of death pathway genes and mitochondrial pathway genes in intervertebral disc degeneration

“…We also found no relationship between Fas gene polymorphism and IVDD. On the other hand, a different study conducted in the Turkish population reported that frequency of Fas-1377 GG genotype and G allele was higher than the control group in patients with osteoarthritis of knee (19). In contrast, Yildir et al (25) did not find any relationship between rheumatoid arthritis and the Fas (-1377 G>A) gene polymorphism.…”

Regulation of Chondrocyte Survival in Mouse Articular Cartilage by p63

“…Fas is a transcriptional target of hypoxia‐inducible factor 2α, and mediates chondrocyte apoptosis during OA development . A SNP in the human FAS gene is also associated with OA susceptibility . PUMA expression is also increased in human OA cartilage .…”