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Polymorphisms in gene for TIMP1, TIMP2 and TIMP3 in relationship to factors describing rheumatoid arthritis

Název česky Polymorfismy v genech pro TIMP1, TIMP2 a TIMP3 ve vztahu k faktorům popisujícím revmatoidní artritdu
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LIPKOVÁ Jolana VAŠKŮ Anna GOLDBERGOVÁ Monika

Rok publikování 2013
Druh Konferenční abstrakty
Fakulta / Pracoviště MU

Lékařská fakulta

Citace
Popis Rheumatoid arthritis (RA) is a chronic autoimmune disease associated with synovial inflammation, progressive cartilage and bone destruction. A hallmark of joint destruction in RA is degradation of collagens, and other extracellular matrix components. The group of matrix degrading enzymes matrix metallo-proteinases (MMPs) and their tissue specific inhibitors (TIMPs) play crucial role in processes of tissue remodeling, join destruction and progression of RA. In a case-control study, we explored relation between three polymorphisms in non-coding areas of TIMP1, TIMP2 and TIMP3 genes and rheumatoid arthritis, with respect to RA. A total of 94 patients with rheumatoid arthritis and 290 control subjects were genotyped for G/C intron TIMP1polymorphism (rs5953060), A/G intron TIMP2 polymorphism (rs8176329) and C/T 3UTR TIMP3 polymorphism (rs1065314). No significant differences in genotype distribution and/or allele frequencies were observed when comparing patients with rheumatoid arthritis and controls. Within the RA patient we have found significant association between studied polymorphism in TIMP1 and levels of anti-CCP (p=0.047), rheumatoid factor (RF) (p=0.06), IL-15 (p=0.02) and IL-6 (p=0.06). Regarding the levels of pro-inflammatory IL-15 and IL-6, the highest concentration was found in patients homozygous for G allele. Furthermore, association of TIMP3 polymorphism and distinct RF: RF IgM (p=0.08), RF IgA(p=0.04), RF IgG (p=0.01) and FW (p=0.06) have been observed. In case of TIMP2 no association to factors of RA was found. In conclusion, the TIMP polymorphisms were not associated to RA, but TIMP-1 and TIMP3 were related to pro-inflammatory cytokines levels in circulation and to RF and anti-CCP, respectively.

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