The investigation of toll-like receptor 3, 9 and 10 gene polymorphisms in Turkish rheumatoid arthritis patients

Etem, Ebru Önalan; Elyas, Halit; Özgöçmen, Salih; Yıldırım, Arefe; Gödekmerdan, Ahmet

doi:10.1007/s00296-010-1472-8

Cited by 49 publications

(41 citation statements)

References 45 publications

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“…The results somewhat vary from region to region. The TLR9 SNP rs187084 allele variant TT may increase RA susceptibility in the Turkish RA population, although it was not associated in studies of Dutch or French cohorts [100][101][102]. Furthermore, the SNP rs5741883 of TLR8 has been reavealed to have association with rheumatoid factor autoantibody positivity in a cohort study on 319 European individuals [103].…”

Section: Rheumatoid Arthritismentioning

confidence: 99%

Toll-Like Receptor Pathways in Autoimmune Diseases

Chen

Szodoray

Zeher

2015

Clinic Rev Allerg Immunol

247

177

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Autoimmune diseases are a family of chronic systemic inflammatory disorders, characterized by the dysregulation of the immune system which finally results in the break of tolerance to self-antigen.Several studies suggest that Toll-like receptors (TLRs) play an essential role in the pathogenesis of autoimmune diseases. TLRs belong to the family of pattern recognition receptors (PRRs) that recognize a wide range of pathogen-associated molecular patterns (PAMPs). TLRs are type I transmembrane proteins and located on various cellular membranes. Two main groups have been classified based on their location；the extracelluar group referred to the ones located on the plasma membrane while the intracellular group all located in endosomal compartments responsible for the recognition of nucleic acids. They are released by the host cells and trigger various intracellular pathways which results in the production of proinflammatory cytokines, chemokines, as well as the expression of co-stimulatory molecules to protect against invading microorganisms. Particular, TLR pathway-associated proteins, such as IRAK, TRAF, and SOCS are often dysregulated in this group of diseases. TLR-associated gene expression profile analysis together with single nucleotide polymorphism (SNP) assessment could be important to explain the pathomechanism driving autoimmune diseases. In this review, we summarize recent findings on TLR pathways regulation in various autoimmune diseases, including Sjögren's syndrome (SS), systemic lupus erythematosus (SLE), multiple sclerosis (MS), rheumatoid arthritis (RA), systemic sclerosis (SSc), and psoriasis. KEYWORDS:Toll-like receptors (TLRs); autoimmune disease; IL-1 receptor associated kinase (IRAK); TNF receptor associated factor (TRAF); Suppressor of cytokine signaling (SOCS) 3 Autoimmune diseases are characterized by the dysregulation of the immune system which finally results in the break of tolerance to self-antigen. Even though the accurate etiology and pathogenesis of the majority of these diseases are still not clear, complex elements, including genetic, environmental, hormonal factors may provoke the autoimmune processes leading to the development of the disease.Concerning the role of derailed immune responses in the pathogenesis, aberrant processes both in the innate and adaptive immune system have been shown to participate in the disease initiation and perpetuation [1]. Within these processes, numerous studies have been demonstrated that Toll-like receptors (TLRs) have an essential role in various autoimmune diseases, including Sjögren's syndrome (SS), systemic lupus erythematosus (SLE), multiple sclerosis (MS), rheumatoid arthritis (RA), systemic sclerosis (SSc), and psoriasis. [2,3]. Toll-like receptorsThe innate immune system is the first line of host defense mechanisms against invading microorganisms and forms the basis of the development of adaptive immunity. Host cells express diverse pattern recognition receptors (PRRs) include toll-like receptors (TLRs), C-type lectin-like receptors (CL...

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Section: Rheumatoid Arthritismentioning

confidence: 99%

Toll-Like Receptor Pathways in Autoimmune Diseases

Chen

Szodoray

Zeher

2015

Clinic Rev Allerg Immunol

247

177

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“…Eleven studies met the study inclusion criteria (Kilding et al, 2003;Radstake et al, 2004;Sanchez et al, 2004;Kuuliala et al, 2006;Lee et al, 2006;Kang and Lee, 2007;Sheedy et al, 2008;Jaen et al, 2009;Enevold et al, 2010;Zheng et al, 2010;Etem et al, 2011 (Table 1). These studies involved 2078 patients with RA and 2581 controls.…”

Section: Studies Included In the Meta-analysismentioning

confidence: 99%

“…These studies involved 2078 patients with RA and 2581 controls. Eight studies were casecontrol studies (Kilding et al, 2003;Radstake et al, 2004;Sanchez et al, 2004;Lee et al, 2006;Kang and Lee, 2007;Sheedy et al, 2008;Zheng et al, 2010;Etem et al, 2011), two were caseonly studies (Kuuliala et al, 2006;Enevold et al, 2010), and one was a family study (Jaen et al, 2009). Relevant features of the studies included in this systematic review are provided in Table 1.…”

Section: Studies Included In the Meta-analysismentioning

confidence: 99%

Meta-analysis demonstrates association between TLR polymorphisms and rheumatoid arthritis

Lee¹,

Bae²,

Song³

2013

Genet. Mol. Res.

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ABSTRACT. We investigated whether Toll-like receptor (TLR) polymorphisms confer susceptibility to rheumatoid arthritis and whether they influence clinical characteristics of rheumatoid arthritis. Studies were considered relevant for our meta-analysis if at least two comparisons of an issue were available. Eleven studies with 2078 patients with rheumatoid arthritis and 2581 controls were included, encompassing European and Asian studies. Meta-analysis of three European studies showed no significant association between the TLR4 Asp299Gly (rs4986790) polymorphism and rheumatoid arthritis (odds ratio = 0.897, 95% confidence interval = 0.734-1.096, P = 0.289). One Turkish study showed a significant difference between TLR9 rs187084 allele frequencies and rheumatoid arthritis patients and controls, while another study revealed a significant association between rheumatoid factor and TLR8 rs5741883. A Korean study on the numbers of guanine-thymine [(GT) n ] repeats in intron II of the TLR2 gene found a significantly higher S-allele frequency in rheumatoid arthritis patients than in controls (30.3 vs 23.0%). Overall findings for the meta-analysis

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“…Genotyping of TLR9 was conducted using PCR-RFLP, as previously described (29). PCR reactions consisted of an initial step of 95˚C for 5 min, followed by 35 cycles at 95˚C 30 sec, 60˚C for 30 sec and 72˚C for 30 sec, and a final incubation at 72˚C for 5 min.…”

Section: Histopathological and Immunohistochemical Examinationmentioning

confidence: 99%

Polymorphisms of glutathione S-transferase π 1 and toll-like receptors 2 and 9: Association with breast cancer susceptibility

et al. 2016

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Abstract. Polymorphisms in antioxidant enzymes and innate immune receptors have been implicated in the development of various types of cancer. The present study aimed to investigate whether polymorphisms of glutathione S-transferase π 1 (GSTP1) and toll-like receptors (TLRs) 2 and 9 are associated with susceptibility to breast cancer among females. The study was conducted on 72 Egyptian female patients with breast cancer, along with 100 healthy volunteers. Polymorphisms of GSTP1 (codon 105 Ile/Val) and TLR9 rs187084 (1237T/C) genes were assessed by polymerase chain reaction (PCR)-restriction fragment length polymorphism, while the -196 to -174 deletion/insertion (del/ins) polymorphism of TLR2 was detected by PCR. The results indicated a decrease in GSTP1 Val allele frequency in breast cancer patients compared with healthy controls, at rates of 22.9 vs. 32.5%, respectively. In addition, the breast cancer group demonstrated a decreased TLR9 C allele frequency compared with the control group, at rates of 36.1 vs. 51.5%, respectively (P=0.0047). A non-significant difference was detected in the frequency of the TLR2 -196 to -174 del allele in breast cancer patients when compared to normal controls. In conclusion, these results suggested that the GSTP1 Val and TLR9 1237C alleles, but not TLR2 -196 to -174 del, are likely to be associated with breast cancer development among females.

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The investigation of toll-like receptor 3, 9 and 10 gene polymorphisms in Turkish rheumatoid arthritis patients

Cited by 49 publications

References 45 publications

Toll-Like Receptor Pathways in Autoimmune Diseases

Toll-Like Receptor Pathways in Autoimmune Diseases

Meta-analysis demonstrates association between TLR polymorphisms and rheumatoid arthritis

Polymorphisms of glutathione S-transferase π 1 and toll-like receptors 2 and 9: Association with breast cancer susceptibility

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