Familial clustering of rheumatoid arthritis with other autoimmune diseases

Lin, Jing-Ping; Cash, Joseph M.; Doyle, Sharon Z.; Peden, Sandra; Kanik, Keith S.; Amos, Chris; Bale, Sherri J.; Wilder, Ronald L.

doi:10.1007/s004390050853

Cited by 123 publications

(78 citation statements)

References 26 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: Discussionmentioning

confidence: 52%

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: Discussionmentioning

confidence: 52%

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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“…An increased prevalence of autoimmune (AI) diseases among relatives of probands with JIA patients has been demonstrated [2]. The prevalence of AI diseases is also increased among relatives of probands with inflammatory myopathies or rheumatoid arthritis (RA) [3,4]. These observations suggest that clinically distinct AI phenotypes share common susceptibility factors.…”

Section: Introductionmentioning

confidence: 99%

Familial autoimmunity: maternal parent-of-origin effect in juvenile idiopathic arthritis

et al. 2007

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Juvenile idiopathic arthritis (JIA) is an autoimmune (AI) disease characterized by chronic arthritis in children. Children with JIA have increased prevalence of other AI diseases. Furthermore, relatives of children with JIA have been shown to have an increased prevalence of AI diseases. Our objective was to determine if there were differences in the prevalence of AI diseases among maternal and paternal relatives of children with JIA. Information about AI diseases among all living first and second degree relatives was collected by structured interviews with families of 121 simplex JIA families, 23 multiplex JIA families and 45 control families. Overall the prevalence of AI diseases was significantly increased among maternal second degree relatives of cases compared to that of controls (14% vs. 4.3%; p <0.001). The prevalence of AI diseases among mothers of JIA cases was three times that of fathers (32.3% vs. 11.4%; p <0.0001). The prevalence of AI diseases among all maternal second-degree relatives of children with JIA was significantly higher than that of all paternal second-degree relatives [14% vs. 7.9%; p < 0.004]. Together these results demonstrate that maternal relatives of children with JIA have an increased prevalence of autoimmunity compared to paternal relatives, suggesting that there might be maternal parent of origin effect in JIA.

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“…Second, both disorders have been identified in the same patients, a phenomenon sometimes called rhupus (9,10). Third, SLE and RA aggregate in families (11,12). Fourth, cases of SLE and RA have each evolved into the other disease (13).…”

mentioning

confidence: 99%

Stratification of pedigrees multiplex for systemic lupus erythematosus and for self‐reported rheumatoid arthritis detects a systemic lupus erythematosus susceptibility gene (SLER1) at 5p15.3

Namjou

Nath

Kilpatrick

et al. 2002

Arthritis & Rheumatism

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Objective. Arthritis is a common manifestation in systemic lupus erythematosus (SLE), appearing in ϳ85% of patients. Often, the polyarthritis at presentation of SLE cannot be distinguished from rheumatoid arthritis (RA) by physical examination or history. Indeed, physicians initially tell many SLE patients that they have RA (one source of "self-reported RA"), only to have SLE established later. In addition, RA aggregates in families with an SLE proband. We predicted that pedigrees multiplex for both SLE and for self-reported RA would better isolate particular genetic effects. If this proved to be true, we would then use the increased genetic homogeneity to more easily reveal genetic linkage.Methods. From a collection of 160 pedigrees multiplex for SLE, we selected 36 pedigrees that also contained >2 members with self-reported RA (19 pedigrees were African American, 14 were European American, and 3 were of other ethnic origin). Data from a genome scan of 307 microsatellite markers were evaluated for SLE linkage by contemporary genetic epidemiologic techniques.Results. The most significant evidence of linkage to SLE was obtained at 5p15.3 in the European American pedigrees by both parametric (logarithm of odds [LOD] score 6.2, P ‫؍‬ 9.3 ؋ 10 ؊8) and nonparametric (LOD score 6.9, P ‫؍‬ 1.7 ؋ 10 ؊8 ) methods. The bestfitting model for this putative SLE gene in this region was a recessive gene with a population frequency of 5% and with 50% penetrance in females and 15% penetrance in males at virtually 100% homogeneity.Conclusion. For a genetically complex disease phenotype, an unusually powerful linkage has been found with SLE at 5p15.3 in European American pedigrees multiplex for SLE and for self-reported RA. This result predicts the presence of a gene at the top of chromosome 5 in this subset of patients that is important for the pathogenesis of SLE.Strong evidence exists for a genetic component in systemic lupus erythematosus (SLE). Familial aggregation, high sibling recurrence rates ( s ϭ 10-40) (1), increased monozygotic twin concordance rates compared with those for dizygotic twins and other full siblings (2), and the discovery of genetic linkages and associations all support the existence of susceptibility genes for SLE. Indeed, a number of genetic associations have been clearly established with SLE. Examples include alleles at multiple genes in the HLA region, including HLA-DR3 and various complement components, and the Fc␥ region of 1q23.1 (3-5). More recent investigations have also established multiple genetic linkages with SLE, including effects at 1q21. 3, 1q41, 2q37, 4p16, 6p21, and 16q13 (6-8).Rheumatoid arthritis (RA) is related to SLE on

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Familial clustering of rheumatoid arthritis with other autoimmune diseases

Cited by 123 publications

References 26 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

Familial autoimmunity: maternal parent-of-origin effect in juvenile idiopathic arthritis

Stratification of pedigrees multiplex for systemic lupus erythematosus and for self‐reported rheumatoid arthritis detects a systemic lupus erythematosus susceptibility gene (SLER1) at 5p15.3

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