IL1B -511(G&gt;A) and IL1RN (VNTR) allelic polymorphisms and susceptibility to knee osteoarthritis in Croatian population

Jotanović, Zdravko; Etokebe, Godfrey Essien; Mihelic, Radovan; Kaarvatn, M. H.; Mulac‐Jeričević, Biserka; Tijanic, Tamara; Balen, Sanja; Šestan, Branko; Dembić, Zlatko

doi:10.1007/s00296-011-1946-3

Cited by 19 publications

(33 citation statements)

References 35 publications

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“…Zheng et al (2013) suggested that G rs16944 is associated with an increased risk of esophageal squamous cell carcinoma, while a meta-analysis of studies analyzing individuals of European descent Abu-Maziad et al (2010) reported that osteomyelitis of the hand was associated with rs16944. However, Jotanovic et al (2012) did not identify a significant association between this SNP and osteoarthritis in Caucasian patients. The results of our study also indicated that the frequency of the C rs3804099 allele, located in TLR2, is significantly higher in patients than in control individuals (P = 0.004, Pc = 0.04), indicating that people positive for this allele are at a twofold greater risk of H O than negative individuals.…”

Section: Discussionmentioning

confidence: 96%

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Association of single nucleotide polymorphisms in pro-inflammatory cytokine and toll-like receptor genes with pediatric hematogenous osteomyelitis

et al. 2016

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ABSTRACT. Hematogenous osteomyelitis (H O ) is a bone infectionwherein bacteria penetrate to the bone through the blood stream. Several single nucleotide polymorphisms (SNPs) have been associated with susceptibility to infectious diseases. In this study, we investigated the contribution of SNPs in interleukin (IL)-1B1 (rs16944), IL1A (rs1800587), IL1B (rs1143634), toll-like receptor (TLR)-2 (rs3804099), TLR4 (rs4986790), TLR4 (rs4986791), IL1R (rs2234650), tumor necrosis factor (TNF)-α (rs1800629), TNF (rs361525), and IL1RN (rs315952) towards the development of H O in Saudi patients and compared to healthy controls. Fifty-two patients diagnosed with H O and 103 healthy individuals were genotyped. The frequencies of genotypes GG (rs16944) and AA (rs16944) were lower and higher in patients [odds ratio (OR) = 0.34, Pc = 0.05] and controls (OR = 1.33, Pc = 0.05), respectively, suggesting that SNPs at this locus could alter H O susceptibility. In addition, the patients and controls exhibited lower and higher frequencies of the alleles G (rs16944) (OR = 0.43, Pc = 0.007) and A (rs16944) (OR = 2.32, Pc = 0.007), respectively. The expression of alleles C (rs3804099) and T (rs3804099) were higher in patients (OR = 2.05, Pc = 0.04) and controls (OR = 0.49, Pc = 0.04), respectively. In conclusion, SNPs at rs16944 and rs3804099 were found to be associated with H O in the Saudi population.

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Section: Discussionmentioning

confidence: 96%

“…Table 1. Cytokine, cytokine receptor, and toll-like receptor characteristics (Lu et al, 2005;Tsezou et al, 2008;Jotanovic et al, 2012;Zheng et al, 2013)]. …”

Section: Introductionmentioning

confidence: 99%

Association of single nucleotide polymorphisms in pro-inflammatory cytokine and toll-like receptor genes with pediatric hematogenous osteomyelitis

et al. 2016

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“…Relation of the allelic variants SNP rs16944 (G/A) with impairment of AMPAR endocytosis and PTSD still obscure, at same time, there are indirectly data allowing suggest the relationship of PTSD with A-allele ("AA" genotype), SNP rs16944. It has been found that A-allele is associated with increases susceptibility to osteoarthritis [51,52], herewith patients with PTSD were more likely to have osteoarthritis [53]. Available data suggest that PTSD is highly complex and polygenic disorder.…”

Section: Introductionmentioning

confidence: 96%

The Possibility of Applying a Combination of Allelic Variants of IL-1β Gene and WWC1 Gene for Assessing Susceptibility to PTSD (Pilot Investigation)

Краснов¹,

Klein²,

M³

et al. 2017

J Mol Biomark Diagn

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Memory and fear are two overlapping CNS processes in which mechanism of synaptic plasticity plays a key role. Fear increases likelihood fixation in memory behaviorally important information associated with a traumatic event. For healthy psychological functioning is crucial the ability to update the content and emotional charge of memories (cognitive plasticity) contributing to fading and extinction of fear memories once this event has been passed. Memory performance and its plasticity are associated with ability of synapses to change of number α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid glutamate receptors (AMPAR) on the post-synaptic membrane surface. AMPAR undergo exocytosis/ endocytosis (AMPAR trafficking), thus changing the strength of neural connections (synaptic plasticity) and contributing to formation, maintaining and transformation of memories. Impairment of AMPAR trafficking may become a cause of deficiency of fear extinction, and development of posttraumatic stress disorder (PTSD). AMPAR trafficking is controlled by the nervous and the immune systems jointly. Kidney and brain expressed protein (KIBRA) and interleukin (IL) -1β are important regulators of AMPAR trafficking. Data show that genes encoding of these proteins (KIBRA-WWC1 gene and IL-1β gene) and their alleles mediates of stress impact on synaptic plasticity and are a bridge between memory and diseases. Disease susceptibility in humans is most commonly associated with single nucleotide polymorphisms (SNPs), when corresponding sequences of DNA from different individuals differ at one DNA base. PTSD is polygenic disorder, so can be identified the combination of allelic variations of SNPs, associated with strength and plasticity of memory that distinguish PTSD patients from the control. Our preliminary results showed that the combination of the certain allelic variants of WWC1, SNP rs17070145 (T/C), and the IL-1β gene, SNP rs16944 (A/G), is characteristic for PTSD compared to depressive and healthy groups. We assume that this combination might be used for pre-clinical diagnosis PTSD and in clinical practice.

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“…The aim of this case-control study was to analyse IL-1 gene locus polymorphisms in Croatian knee and hip OA patients and compare them with results in other populations. We have published recently a part of this study regarding two polymorphisms in the IL-1B and IL-1RN genes [23,24]. Here, we extend it by analysing associations of four-marker extended-risk IL-1 gene locus haplotypes with hip and knee OA and focused on gender differences.…”

Section: Introductionmentioning

confidence: 99%

“…The blood was taken from OA patients during PKR, TKR or THR surgery and genomic DNA extracted as reported previously [23,24]. In detail, for the extraction of genomic DNA, 200 ll of whole blood was mixed with 400 ll of sucrose buffer (0.32 M sucrose, 10 mM Tris-HCl pH 7.5, 5 mM MgCl 2 , 1% v/v Triton X-100) and incubated for 1 min at room temperature.…”

Section: Dna Isolationmentioning

confidence: 99%

Associations of the Interleukin‐1 Gene Locus Polymorphisms with Risk to Hip and Knee Osteoarthritis: Gender and Subpopulation Differences

et al. 2013

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Genetic predisposition to the complex hereditary disease like osteoarthritis (OA) of the large joints (hip and knee) includes the interleukin-1 gene (IL-1) cluster on chromosome 2. Using a case-control study with 500 OA patients (240 knee and 260 hip OA patients, all with joint replacement), we analysed frequencies of IL-1 gene cluster polymorphisms in Croatian Caucasian population. The control samples came from 531 healthy individuals including blood donors. We genotyped two single nucleotide polymorphisms in the IL-1 gene locus at IL-1A (À889, C>T, rs1800587) and IL-1B (+3594, C>T, rs1143634) and compared their frequencies between patients and controls. We predicted haplotypes by combining current data with our previous results on gene polymorphisms (IL-1B, rs16944 and the IL-1 receptor antagonist gene [IL-1RN] variable number tandem repeat [VNTR]) for the same population. Haplotype analyses revealed gender disparities and showed that women carriers of the 1-2-1-1 haplotype [IL-1A(rs1800587) -IL-1B(rs1143634) -IL-1B(rs16944) -IL-1RN(VNTR)] had sixfold lower risk to develop knee OA. However, carriers of the 1-1-1-2 haplotype of both sexes had over twofold higher predisposition to hip OA. Our results differ from some earlier studies in Caucasian subpopulations, which may be due to the fact that this is the first study to separate genders in assessing the IL-1-locus genetic risk of OA. The results suggest that inflammatory mediators like IL-1 might be implicated in the pathogenesis of primary OA in large joints and that as yet unidentified gender-specific factors exist in a Croatian Caucasian population.

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IL1B -511(G>A) and IL1RN (VNTR) allelic polymorphisms and susceptibility to knee osteoarthritis in Croatian population

Cited by 19 publications

References 35 publications

Association of single nucleotide polymorphisms in pro-inflammatory cytokine and toll-like receptor genes with pediatric hematogenous osteomyelitis

Association of single nucleotide polymorphisms in pro-inflammatory cytokine and toll-like receptor genes with pediatric hematogenous osteomyelitis

The Possibility of Applying a Combination of Allelic Variants of IL-1β Gene and WWC1 Gene for Assessing Susceptibility to PTSD (Pilot Investigation)

Associations of the Interleukin‐1 Gene Locus Polymorphisms with Risk to Hip and Knee Osteoarthritis: Gender and Subpopulation Differences

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