Association of TNF -238 and -308 Promoter Polymorphisms with Psoriasis Vulgaris and Psoriatic Arthritis but not with Pustulosis Palmoplantaris

Mößner, Rotraut; Kingo, Külli; Kleensang, André; Krüger, Ullrich; König, Inke R.; Silm, Helgi; Westphal, Götz A.; Reich, Kristian

doi:10.1111/j.0022-202x.2004.23556.x

Cited by 67 publications

(53 citation statements)

References 10 publications

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“…However, several population studies designed to evaluate the association between some TNF-a gene polymorphisms, such as G to A substitutions at positions À 238 and À 308, and PsA lead to conflicting results (Höhler et al, 1997;Hamamoto et al, 2000;Gonzalez et al, 2001Gonzalez et al, , 2002Hohler et al, 2002;Nishibu et al, 2002;Balding et al, 2003;Mossner et al, 2005;Rahman et al, 2006). In this study, we investigated the role of SNPs at positions À 238, À 308, and þ 489 within the TNF-a gene in PsA susceptibility, severity, and response to TNF-a inhibitors.…”

Section: Discussionmentioning

confidence: 99%

“…In fact, some authors found a strong association between these TNF-a promoter polymorphisms and PsA, suggesting that both polymorphisms could be used as biomarkers to predict the risk of the disease (Höhler et al, 1997;Hamamoto et al, 2000;Hohler et al, 2002;Nishibu et al, 2002;Balding et al, 2003;Mossner et al, 2005;Rahman et al, 2006). In particular, Hohler et al (2002) reported a highly significant association of the SNP À 238A with PsA in the German population and Balding et al (2003) observed the association of the SNP À 308 with PsA in Irish patients.…”

Section: Introductionmentioning

confidence: 99%

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TNF-α Gene Polymorphisms: Association with Disease Susceptibility and Response to Anti-TNF-α Treatment in Psoriatic Arthritis

Murdaca

Gulli

Spanò

et al. 2014

Journal of Investigative Dermatology

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The tumor necrosis factor-α (TNF-α) gene has been proposed as a major candidate gene in psoriatic arthritis (PsA). TNF-α is a therapeutic target for patients responding poorly to conventional treatments. We investigated the role of single-nucleotide polymorphisms (SNPs) at positions -238, -308, and +489 of the TNF-α gene in the genetic susceptibility to PsA, in the severity of the disease, and, finally, in the response to TNF-α inhibitors (adalimumab, etanercept, or infliximab). Fifty-seven Caucasian PsA patients and 155 healthy matched controls were studied. The SNP +489 variant allele A was significantly associated with PsA susceptibility (P=0.0136) and severity of clinical (Psoriasis Area and Severity Index score, American College of Rheumatology criteria, Disease Activity Score 28, and Disability Index Health Assessment Questionnaire) and laboratory (C-reactive protein and erythrocyte sedimentation rate) parameters (P-values ranging from 0.016 to 2.908 × 10(-12)). The difference in severity was accounted for by the differences between the AA and GA genotypes with respect to the GG genotype. The SNP +489A allele shows a trend of association with the response to PsA treatment with etanercept. These findings suggest a role of the SNP +489A allele in the susceptibility and severity of PsA.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

TNF-α Gene Polymorphisms: Association with Disease Susceptibility and Response to Anti-TNF-α Treatment in Psoriatic Arthritis

Murdaca

Gulli

Spanò

et al. 2014

Journal of Investigative Dermatology

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“…Polymorphisms in the promoter of TNF, regulating its level, have been of interest for many years and some evidence has been provided for association with psoriasis. 87,88 However, the gene encoding TNF-a lies in the MHC region, and exhibits association with HLA class I alleles such as HLA-C. Hence, associations with TNF-a polymorphisms with psoriasis could be due to its proximity with HLA-C.…”

mentioning

confidence: 99%

Psoriasis: genetic associations and immune system changes

2006

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Psoriasis is a common inflammatory skin disease characterized by infiltration of inflammatory cells into the epidermis and altered keratinocyte differentiation. Psoriasis is currently thought of as a T-cell mediated 'Type-1' autoimmune disease. Gene expression changes in psoriasis lesions have been well documented, and strongly support an important role for tumor necrosis factor and interferon gamma signal pathways in its pathogenesis. The strongest genetic determinant of psoriasis identified to date lies within the class I region of the multiple histocompatibility locus antigen cluster, although its low penetrance implicates a requirement for other genetic risk factors. Multiple genome-wide linkage and an increasing number of association studies have been carried out, leading to multiple linkage peaks, and the identification of potential low risk variants. A number of these variants lie within genes encoding components of the immune system. However, the functional relationships between predisposing genetic variation is unclear, and presumably involves genetic susceptibility factors affecting both immune cell activation and keratinocyte differentiation. The interaction of environmental trigger factors with genetic effects is also not understood, but provide further evidence for the complex basis of this disease.

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“…An increased frequency of TNF-238A in psoriasis and PA was found in two studies in Western European white populations, 69,70 but was not confirmed in patients with PA in an English 71 and Estonian studies. 72 An investigation from Germany found a decrease in TNF-238A in AS, which was not seen in other studies: in Kaijzel et al 73 and Gonzalez et al studies, the frequency of TNF-238A was significantly decreased only with respect to healthy subjects HLA-B27 negative and to patients with AS HLA-B27 negative, respectively. In addition, a Dutch study found no difference in the transcriptional activity of the TNF-238A variant in RA population.…”

Section: G Ferraccioli Et Almentioning

confidence: 81%