Psoriatic Arthritis and CARD15 Gene Polymorphisms: No Evidence for Association in the Italian Population

Giardina, Emiliano; Novelli, Giuseppe; Costanzo, Antonio; Nisticò, Steven Paul; Bulli, Cristina; Sinibaldi, Cecilia; Sorgi, Maria Laura; Chimenti, Sergio; Pallone, Francesco; Taccari, E; Borgiani, Paola

doi:10.1111/j.0022-202x.2004.22524.x

Cited by 38 publications

(38 citation statements)

References 11 publications

(9 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Because a locus at 16q has been associated with paternal transmission in PsA [97], the involvement of NOD2 was more frequently studied in this disease. A positive association with PsA was found once [98], but this was not supported by other studies [99][100][101]. We also could not show an association of NOD2 with SpA in general; however, those patients with subclinical chronic gut inflammation contained a significantly higher number of CD-associated SNPs in NOD2 (38%), which was comparable to the frequency in CD patients from the same institution (49%) [52].…”

Section: Nod2 (16q)contrasting

confidence: 94%

Genetics of Spondyloarthropathies and Inflammatory Bowel Disease: Searching for Common Susceptibility Factors

Laukens¹,

Vos

2008

CRR

View full text Add to dashboard Cite

Ileocolonoscopic evidence for subclinical gut inflammation is found in a subpopulation of spondyloarthropathy (SpA) patients. The prevalence of microscopic intestinal lesions is even higher and can be classified as either an acute or a chronic type of inflammation. The latter condition is associated with an increased risk of developing overt inflammatory bowel disease (IBD), especially Crohn's disease (CD), over time. Evidence for genetic predisposition in both SpA and IBD is strong, and has resulted in the identification of several linked chromosomal loci and putative candidate genes. The regular co-existence of SpA and IBD within the same family suggests a common genetic component. Interestingly, comparison of genome-wide linkage and association data reveals thirteen disease-associated chromosomal regions that are shared between SpA and IBD. This should convince geneticists to examine genes within these regions as potential susceptibility genes for the development of both SpA and IBD. Significant association of such shared genetic determinants was established for NOD2 (16q), the major histocompatibility complex I allele HLA-B27 (6p) and recently also the interleukin 23 receptor (1p). Transgenic animals in which tumor necrosis factor alpha or HLA-B27 is overexpressed suffer both joint and gut abnormalities resembling human SpA/CD pathology, providing additional evidence for a common genetic predisposition for the onset of joint and gut inflammation. In view of a hypothetical pathway leading to intestinal and articular inflammation in SpA and IBD, we review and compare genome-wide linkage and genetic association data obtained for SpA and IBD.Keywords: Spondyloarthropathy, Crohn's disease, genetic susceptibility, NOD2, HLA-B27, IL23R.Spondyloarthropathy (SpA) and inflammatory bowel disease (IBD) are chronic inflammatory conditions in which the initiating events are complex. In SpA, the axial skeleton, the sacroiliac joints and, to a lesser degree, peripheral joints become inflamed, whereas in IBD involving Crohn's disease (CD) and ulcerative colitis (UC), the intestine is the primary site of inflammation. The estimated prevalence in Western countries is 0.3-2% for SpA and 0.1-0.3% for IBD. The unity between SpA and IBD is illustrated by a strong clinical as well as molecular overlap. The first symptoms present themselves in early adulthood, usually before the age of 30, but early childhood and late onset disease occur sporadically. Medical treatment is mainly based on diminishing the inflammation and maintaining the remission states. Spondyloarthropathy is a heterogeneous group generally divided into 5 disease categories: ankylosing spondylitis (AS), reactive arthritis (ReA), psoriatic arthritis (PsA), SpA associated with IBD (SpA-IBD) and undifferentiated SpA. In the SpA-IBD group, patients suffer from clinically overt CD or UC. However, the gut is also an important site of inflammation in patients belonging to the other SpA disease categories. In ileocolonoscopic studies of SpA patients, histological ...

show abstract

Section: Nod2 (16q)contrasting

confidence: 94%

Genetics of Spondyloarthropathies and Inflammatory Bowel Disease: Searching for Common Susceptibility Factors

Laukens¹,

Vos

2008

CRR

View full text Add to dashboard Cite

show abstract

“…We treated data of each subgroup as an independent comparison. As for R702W, there were 2,081 patients vs. 2,717 controls and 1,222 patients vs. 1,818 controls for allele polymorphism and genotype in our meta-analysis [15,16,[18][19][20][21][22][23]. Thus, a total of 2,053 patients vs. 2,743 controls and 1,226 patients vs. 1,824 controls were included to analyze the association between NOD2/ CARD15 G908R allele polymorphism and genotype and psoriasis/PsA risk, respectively [15,16,[18][19][20][21][22][23].…”

Section: Study Characteristicsmentioning

confidence: 76%

“…We evaluated the NOD2/CARD15 R702W alleles from 10 comparisons in 8 relevant studies [15][16][17][18][19][21][22][23]. We found no signiWcant association of NOD2/CARD15 R702W with psoriasis/PsA.…”

Section: Nod2/card15 R702w Polymorphismmentioning

confidence: 99%

“…Thus, a total of 2,053 patients vs. 2,743 controls and 1,226 patients vs. 1,824 controls were included to analyze the association between NOD2/ CARD15 G908R allele polymorphism and genotype and psoriasis/PsA risk, respectively [15,16,[18][19][20][21][22][23]. Then for Leu1007fsinsC allele polymorphism and genotype, involving 2,279 patients vs. 3,067 controls and 1,979 patients vs. 1,607 controls are from comparisons [15][16][17][18][19][20][21][22][23].…”

Section: Study Characteristicsmentioning

confidence: 99%

“…Since Lee FI et al [9] described a potential association between psoriasis and Crohn's disease, possible association of the NOD2/CARD15 polymorphisms R702W, G908R, and Leu1007fsinsC with psoriasis and PsA have been studied among Italian, UK, German, Canada, US, and Spain patients [15][16][17][18][19][20][21][22][23]. However, results are controversial.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Meta-analysis of NOD2/CARD15 polymorphisms with psoriasis and psoriatic arthritis

et al. 2011

View full text Add to dashboard Cite

Psoriasis and psoriatic arthritis (PsA) is a complex autoimmune disease. NOD2/CARD15 gene has been suggested to play an important role in the pathogenesis of psoriasis and PsA. This study aims to assess the association between NOD2/CARD15 polymorphisms and the susceptibility to psoriasis/PsA. A meta-analysis was performed to survey studies on the NOD2/CARD15 polymorphisms and psoriasis/PsA using comprehensive PubMed, Embase, and Web of Science citation search. A total of 9 published studies were involved. Meta-odds ratios (ORs) and 95% confidence intervals (CIs) based on fixed effects models or random effects models were depended on Cochran's Q-statistic. Potential publication bias was evaluated by Egger's linear regression test. As for R702W, the pooled ORs were 1.041 (95% CI 0.854-1.268, P = 0.693; 2,081 patients vs. 2,717 controls) for C allele and 0.886 (95% CI 0.565-1.391. P = 0.600; 1,222 patients vs. 1,818 controls) for genotype. Then for G908R, the pooled ORs were 1.042 (95% CI, 0.761-1.426, P = 0.799; 2,053 patients vs. 2,743 controls) for C allele and 0.942 (95% CI 0.708-1.254, P = 0.683; 1,226 patients vs. 1,824 controls) for the homozygous wild type. Then for Leu1007fsinsC allele polymorphism and genotype, the pooled ORs were 1.160 (95% CI, 0.893-1.507, P = 0.266; 2,279 patients vs. 3,067 controls) and 1.266 (95% CI 0.897-1.789, P = 0.180; 1,979 patients vs. 1,607 controls), respectively. No obvious publication bias was shown in the results. The association between NOD2/CARD15 polymorphisms and psoriasis/PsA was not found. Taken together, our results suggest that NOD2/CARD15 might not be a susceptibility gene for psoriasis and psoriatic arthritis.

show abstract

Evidence for common genetic control in pathways of inflammation for Crohn's disease and psoriatic arthritis

Bruce

Silman

et al. 2005

Arthritis & Rheumatism

View full text Add to dashboard Cite

Objective. Clinical, pharmacologic, and epidemiologic evidence supports the hypothesis that common genetic pathways may underlie inflammatory diseases. In a previous study, a Crohn's disease gene, CARD15, was demonstrated to be associated with psoriatic arthritis (PsA). Recently, a functional haplotype of 2 singlenucleotide polymorphisms (SNPs) mapping to the organic cation transporter (OCTN) genes, SLC22A4 and SLC22A5, was identified as a second Crohn's disease susceptibility locus. The SLC22A4 gene has also been associated with rheumatoid arthritis. This study was undertaken to further elucidate associations of PsA with Crohn's disease susceptibility genes.Methods. Association with CARD15 and OCTN was investigated in UK Caucasian patients with PsA (n ‫؍‬ 472) and population controls (n ‫؍‬ 594), using 5 allelic discrimination assays (TaqMan). Two SNPs in OCTN, forming a haplotype previously associated with Crohn's disease, were also tested in patients with psoriasis (n ‫؍‬ 218) and patients with early undifferentiated inflammatory arthritis (n ‫؍‬ 386). Allele and estimated haplotype frequencies were compared between patients and controls.Results. No association of PsA with CARD15 was detected. In contrast, a functional SNP mapping to the promoter region of SLC22A5 (rs2631367) was associated with PsA (for CC versus GG, odds ratio 1.65, 95% confidence interval 1.13-2.41, uncorrected P ‫؍‬ 0.005). In addition, the haplotype associated with Crohn's disease was also associated with PsA (P ‫؍‬ 0.001). No association was detected in the cohort with psoriasis alone or in the cohort with undifferentiated inflammatory arthritis.

show abstract

Psoriatic Arthritis and CARD15 Gene Polymorphisms: No Evidence for Association in the Italian Population

Cited by 38 publications

References 11 publications

Genetics of Spondyloarthropathies and Inflammatory Bowel Disease: Searching for Common Susceptibility Factors

Genetics of Spondyloarthropathies and Inflammatory Bowel Disease: Searching for Common Susceptibility Factors

Meta-analysis of NOD2/CARD15 polymorphisms with psoriasis and psoriatic arthritis

Evidence for common genetic control in pathways of inflammation for Crohn's disease and psoriatic arthritis

Contact Info

Product

Resources

About