Lack of association polymorphisms of the IL1RN, IL1A, and IL1B genes with knee osteoarthritis in Turkish patients

Sezgin, Malek; Erdal, Mehmet Emin; Altintas, Zuhal Mert; Ankaralı, Handan; Barlas, İbrahim Ömer; Türkmen, E; Şahin, Günşah

doi:10.25011/cim.v30i2.984

Cited by 16 publications

(9 citation statements)

References 21 publications

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“…Several studies have also revealed contradictory findings of genetic contribution to OA. For example, a polymorphism in IL1RN was reported to be associated with disease severity in knee OA in a Caucasian population (Attur et al, 2010), while a study in a Turkish population found no association (Sezgin et al, 2007).…”

Section: Discussionmentioning

confidence: 99%

ADAMTS14 gene polymorphism associated with knee osteoarthritis in Thai women

Poonpet

Honsawek²,

Tammachote

et al. 2013

Genet. Mol. Res.

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ABSTRACT. Osteoarthritis (OA) is the most prevalent form of arthritis in the elderly. This disease is characterized by breakdown and loss of articular cartilage due to genetic, mechanical and environmental factors. Although the pathophysiology of OA is not completely known, several candidate genes have been reported to be associated with OA susceptibility. We assessed the association between genetic variation in the ADAMTS14 region and knee osteoarthritis susceptibility in the Thai population. The rs4747096 SNP was genotyped by PCR-RFLP on genomic DNA extracted from peripheral blood of 108 OA patients and 119 controls. The PCR product (196 bp) was digested with BspEI. A sample with the GG genotype showed two band sizes of 158 and 38 bp, while a sample with the AA genotype showed a single band size of 196 bp. Heterozygotes with the AG genotype showed all three corresponding bands. Genotype distributions, allele frequencies and model of inheritance in patients and controls were compared. In females, the frequency of the AA genotype and the A allele were significantly higher in knee OA patients than in controls [odds ratio (OR) = 2.79, 95% confidence interval (CI) = 1.05-7.59 and OR = 1.58, 95%CI = 1.00-2.45, respectively]. Moreover, genotypic AA and AG were associated with significantly increased risk for knee OA when compared to GG (OR = 2.72, 95%CI = 1.10-6.87). No significant associations were observed in males. In conclusion, the nsSNP rs4747096 in ADAMTS14 was associated with knee OA in female Thai patients; therefore, the role of ADAMTS14 in OA seems to be gender-dependent.

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Section: Discussionmentioning

confidence: 99%

ADAMTS14 gene polymorphism associated with knee osteoarthritis in Thai women

Poonpet

Honsawek²,

Tammachote

et al. 2013

Genet. Mol. Res.

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“…The genotypes of rs1143634, rs16944 and rs419598 were determined by mass spectrometry (homogeneous Mass ARRAY 13,14 Ni et al 10 Ruzickova et al 11 Limer et al 7 Loughlin et al system; Sequenom Inc., San Diego, CA), using standard conditions. Genotypes were analysed by using Genotyper 3.0 software (Sequenom Inc.).…”

Section: Garp Studymentioning

confidence: 99%

Large-scale meta-analysis of interleukin-1 beta and interleukin-1 receptor antagonist polymorphisms on risk of radiographic hip and knee osteoarthritis and severity of knee osteoarthritis

Kerkhof

Doherty

Arden

et al. 2011

Osteoarthritis and Cartilage

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“…Multiple genetic association studies have been undertaken to investigate whether these potential functional aspects of IL‐1 gene cluster polymorphisms may in part explain genetic susceptibility to OA. Previously, we and others have reported associations of the IL‐1 gene cluster with knee, hip, and hand OA (21–26), although others failed to confirm these associations (27, 28). Taken together, the findings to date indicate that the effects of IL‐1 gene cluster SNPs on innate ex vivo cytokine production and OA may be complex and may involve interactions among different polymorphic sites, and that they should therefore be investigated by studying independent haplotypes.…”

mentioning

confidence: 75%

Interleukin‐1 gene cluster variants with innate cytokine production profiles and osteoarthritis in subjects from the Genetics, Osteoarthritis and Progression Study

Meulenbelt¹,

Bos²,

Kloppenburg³

et al. 2010

Arthritis & Rheumatism

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Objective. To assess whether genetic variation in the interleukin-1 (IL-1) gene cluster contributes to familial osteoarthritis (OA) by influencing innate ex vivo production of IL-1␤ or IL-1 receptor antagonist (IL-1Ra).Methods. Innate ex vivo IL-1␤ and IL-1Ra production upon lipopolysaccharide (LPS) stimulation of whole blood cells was measured in subjects from the Genetics, Osteoarthritis and Progression (GARP) Study, which includes sibling pairs in which at least one sibling has symptomatic OA at multiple sites. Radiographic OA (ROA) was assessed by Kellgren/Lawrence score. Subjects from the GARP Study and controls from the Rotterdam Study were genotyped for 7 single-nucleotide polymorphisms (SNPs) encompassing the IL-1 gene cluster on chromosome 2q13. Linkage disequilibrium analysis and genotype and haplotype association analysis were performed to assess the relationship between the IL-1 gene cluster SNPs, innate ex vivo cytokine production, and OA.Results. Among subjects in the GARP Study, the haplotype variable-number tandem repeat in intron 2/T؉8006C/T؉11100C 2/2/1 of the IL1RN gene was significantly associated with reduced innate ex vivo bioavailability of IL-1␤ upon LPS stimulation (P ‫؍‬ 0.026) and with ROA at the highest number of joint locations.Conclusion. These results show that genetic variation at the IL-1 gene cluster is associated with lower IL-1␤ bioavailability and with OA at a large number of joint locations. The data further indicate that, among subjects with OA affecting the highest number of joints, the innate immune system may be activated, thereby obscuring possible underlying mechanisms.Osteoarthritis (OA) is a common joint disease and an important cause of pain and disability in the general population. Genetic factors play an important role in the etiology of various subtypes of OA (1-5). There has been a large amount of interest in the role of cytokines as mediators of joint damage and inflammation in the pathogenesis of OA. Chondrocytes are known to respond to interleukin-1␤ (IL-1␤) by reducing the synthesis of matrix components and increasing the synthesis of matrix metalloproteinases (MMPs) (6). MMPs degrade extracellular matrix components in articular cartilage. IL-1 receptor antagonist (IL-1Ra) is the natural competitive inhibitor of IL-1␤, occupying the cell surface IL-1 receptor without triggering signal transduction, and its levels might be considered critical in determining IL-1␤ bioavailability (6).

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Lack of association polymorphisms of the IL1RN, IL1A, and IL1B genes with knee osteoarthritis in Turkish patients

Cited by 16 publications

References 21 publications

ADAMTS14 gene polymorphism associated with knee osteoarthritis in Thai women

ADAMTS14 gene polymorphism associated with knee osteoarthritis in Thai women

Large-scale meta-analysis of interleukin-1 beta and interleukin-1 receptor antagonist polymorphisms on risk of radiographic hip and knee osteoarthritis and severity of knee osteoarthritis

Interleukin‐1 gene cluster variants with innate cytokine production profiles and osteoarthritis in subjects from the Genetics, Osteoarthritis and Progression Study

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