CARD15: a Pleiotropic Autoimmune Gene That Confers Susceptibility to Psoriatic Arthritis

Rahman, Proton; Bartlett, Sylvia E.; Siannis, Fotios; Pellett, Fawnda; Farewell, Vernon T.; Peddle, Lynette; Schentag, Cathy; Alderdice, Catherine; Hamilton, Sean; Khraishi, Majed; Tobin, Yvonne M; Hefferton, Donna; Gladman, Dafna D.

doi:10.1086/378076

Cited by 146 publications

(107 citation statements)

References 18 publications

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“…Initially identified as a susceptibility allele for type 1 diabetes (14), the PTPN22 1858T variant has now been implicated in the genetic etiology of RA and, most recently, systemic lupus erythematosus (10,23). The sharing of this risk allele among these autoimmune diseases is consistent with longstanding epidemiologic data showing familial clustering of autoimmune conditions (24,25), with genetic data revealing considerable overlap among susceptibility loci identified for different autoimmune diseases (26,27), and with very recent data identifying variants in the CARD15 and SLC22A4/ SLC22A5 genes as susceptibility alleles for both Crohn's disease and psoriatic arthritis (28)(29)(30)(31).…”

Section: Discussionsupporting

confidence: 76%

Association of the lymphoid tyrosine phosphatase R620W variant with rheumatoid arthritis, but not Crohn's disease, in Canadian populations

Oene¹,

Wintle²,

Liu³

et al. 2005

Arthritis & Rheumatism

112

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Objective. A single-nucleotide polymorphism in the PTPN22 gene encoding the lymphoid protein tyrosine phosphatase (Lyp) has recently been identified as a functional variant associated with susceptibility to rheumatoid arthritis (RA), type 1 diabetes, and systemic lupus erythematosus. To determine whether association of this variant (PTPN22 1858T) with RA is reproducible and is also observed in another autoimmune condition, Crohn's disease, we investigated the association between the PTPN22 1858T allele and RA and Crohn's disease in a Canadian population.Methods. Two RA case-control cohorts representing a total of 1,234 patients and 791 healthy controls as well as a cohort of 455 patients with Crohn's disease and 190 controls were genotyped for the PTPN22 C1858T polymorphism, and genotype frequencies were compared between patients and controls.Results. Significant association of the PTPN22 1858T allele with RA was detected in both the Torontobased RA cohort (P ‫؍‬ 1.6 ؋ 10 ؊6 , odds ratio [OR] 1.8) and the Halifax-based RA cohort (P ‫؍‬ 9.4 ؋ 10 ؊4 , OR 1.94). Association of the risk allele with RA was not affected by sex, age at disease onset, or the presence of either rheumatoid factor or rheumatoid nodules. No association between the PTPN22 risk allele and Crohn's disease was detected.Conclusion. These observations confirm the association of RA susceptibility with the PTPN22 1858T allele. However, the data also reveal a lack of association between this variant and Crohn's disease, suggesting that the PTPN22 1858T allele is a risk allele for multiple, but not all, autoimmune diseases.Rheumatoid arthritis (RA) is one of the most common systemic autoimmune disorders, affecting an estimated 0.5-1% of the population. The disease is characterized by peripheral synovial joint inflammation, which leads to cartilage and bone damage and, ulti-

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Section: Discussionsupporting

confidence: 76%

Association of the lymphoid tyrosine phosphatase R620W variant with rheumatoid arthritis, but not Crohn's disease, in Canadian populations

Oene¹,

Wintle²,

Liu³

et al. 2005

Arthritis & Rheumatism

112

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“…27,28 It is of interest to compare our results to those of a recent GSMA performed by Lee and Nath. 29 There are a number of methodological differences, including the fact that only the most significant results derived from tables were ranked in the analysis by Lee and Nath, 29 resulting in a large amount of missing data.…”

mentioning

confidence: 83%

Meta-analysis of genome-wide linkage studies of systemic lupus erythematosus

et al. 2006

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A genetic contribution to the development of systemic lupus erythematosus (SLE) is well established. Several genome-wide linkage scans have identified a number of putative susceptibility loci for SLE, some of which have been replicated in independent samples. This study aimed to identify the regions showing the most consistent evidence for linkage by applying the genome scan meta-analysis (GSMA) method. The study identified two genome-wide suggestive regions on 6p21.1-q15 and 20p11-q13.13 (P-value ¼ 0.0056 and P-value ¼ 0.0044, respectively) and a region with P-valueo0.01 on 16p13-q12.2. The region on chromosome 6 contains the human leukocyte antigen cluster, and the chromosome 16 and 20 regions have been replicated in several cohorts. The potential importance of the identified genomic regions are also highlighted. These results, in conjunction with data emerging from dense single nucleotide polymorphism typing of specific regions or future genome-wide association studies will help guide efforts to identify the actual predisposing genetic variation contributing to this complex genetic disease.

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“…It also seems reasonable to postulate that the skin and joint disease have a similar pathogenesis although the activity of these manifestations does not always change in parallel. Genetic association with PsA has been most extensively studied in human leukocyte antigen (HLA) class I and II polymorphism [5][6][7][8], immunoglobulin genes [9], CARD15 gene [10], tumor necrosis factor (TNF) genes [11,12], and SEEK I gene [13].…”

Section: Introductionmentioning

confidence: 99%

Angiotensin-converting enzyme gene polymorphism in patients with psoriatic arthritis

et al. 2007

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To investigate the frequency of angiotensinconverting enzyme (ACE) gene insertion/deletion (I/D) polymorphism genotypes in adults with psoriatic arthritis (PsA), a heterogeneous chronic disease with autoimmune pathology. ACE gene I/D polymorphism inXuences the plasma and tissue levels of ACE and has an involvement in inXammatory mechanism. The frequency of ACE gene I/D polymorphism genotypes was determined in 51 adults with PsA from Kuwait, and compared to that in 100 ethnically matched healthy controls using polymerase chain reaction. The distribution of ACE I/D polymorphism and allele frequencies in PsA patients were not signiWcantly diVerent from controls (P > 0.05). Further analyses of PsA patients showed that ACE I/D gene polymorphism was not associated with family history, clinical manifestations, and disease severity. However, the frequency of II genotype was signiWcantly higher in patients with late disease onset than in those with early onset (25 vs. 3%; P = 0.04). No diVerence was found between the distribution of the ACE genotype in PsA patients and the general population in Kuwait.However, the presence of II genotype may confer susceptibility to the development of late onset PsA.

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CARD15: a Pleiotropic Autoimmune Gene That Confers Susceptibility to Psoriatic Arthritis

Cited by 146 publications

References 18 publications

Association of the lymphoid tyrosine phosphatase R620W variant with rheumatoid arthritis, but not Crohn's disease, in Canadian populations

Association of the lymphoid tyrosine phosphatase R620W variant with rheumatoid arthritis, but not Crohn's disease, in Canadian populations

Meta-analysis of genome-wide linkage studies of systemic lupus erythematosus

Angiotensin-converting enzyme gene polymorphism in patients with psoriatic arthritis

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