Localization of a gene for familial recurrent arthritis

Wise, Carol A.; Bennett, Lynda; Pascual, Virginia; Gillum, Joseph D.; Bowcock, Anne M.

doi:10.1002/1529-0131(200009)43:9<2041::aid-anr15>3.0.co;2-g

Cited by 67 publications

(40 citation statements)

References 17 publications

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“…It is interesting to note that most patients (4/7; 57.1%) were misdiagnosed as having juvenile idiopathic arthritis when the disease started, a similar misdiagnosis previously reported in different inherited autoinflammatory diseases. [20][21][22][23] Despite the evidence shown here, the actual frequency of somatic NLRP3 mosaicism is unknown and probably underestimated. In our study a potential bias in the selection of patients could exist because they were selected on the basis of the presence of an urticaria-like skin rash associated with other symptoms.…”

Section: Discussionmentioning

confidence: 68%

SomaticNLRP3mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes

et al. 2013

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Section: Discussionmentioning

confidence: 68%

SomaticNLRP3mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes

et al. 2013

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“…Only the linkage to chromosome 15q21 was unique to JRA. This region is ϳ30 cM away from, and does not overlap with, locus 15q22-24, which has been defined for familial recurrent arthritis in an extended kindred in which 9 members were diagnosed as having juvenile idiopathic arthritis (21). Chromosome region 1q31 has been implicated in linkage studies in lupus and multiple sclerosis (22)(23)(24).…”

Section: Discussionmentioning

confidence: 99%

A genome‐wide scan for juvenile rheumatoid arthritis in affected sibpair families provides evidence of linkage

Thompson¹,

Moroldo²,

Guyer³

et al. 2004

Arthritis & Rheumatism

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Methods. Genotype data collected for HLA-DR and 386 microsatellite markers were subjected to multipoint nonparametric linkage analysis. Following analysis of the entire set of families, additional analyses were performed after a priori stratification by disease onset type, age at onset, disease course, and selected HLA-DRB1 alleles. Conclusion. These data support the hypothesis that multiple genes, including at least 1 in the HLA region, influence susceptibility to JRA. These findings for JRA are consistent with findings for other autoimmune diseases and support the notion that common genetic regions contribute to an autoimmune phenotype.Collectively, the varied conditions that constitute juvenile rheumatoid arthritis (JRA) represent the most common chronic rheumatic inflammatory conditions of childhood. Current estimates indicate that as many as 50,000 children in the US have been diagnosed with some form of JRA (1). The diagnosis of JRA is complicated by the heterogeneous nature of the clinical phenotypes and has broadly been defined by the American College of Rheumatology (ACR) (2) based on systemic involvement (fevers, rash, and involvement of other organ systems besides the musculoskeletal system) and mode of disease onset (pauciarticular [Յ4 joints] versus polyarticular [Ն5 joints]).Evidence suggests that JRA is a complex genetic disorder that is influenced by multiple genetic and environmental factors. The sibling risk ratio for a full sibling of a child with JRA is estimated to be 15 (3). These results are consistent with other autoimmune disorders, such as type 1 diabetes (4).

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“…Therefore, we separated the qualitative (susceptibility) and quantitative (other clinical) traits, and introduced additional scores based on the arthritis index. The severity score is the same as the arthritis score, but it applies only to arthritic mice (range of scores [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16]. In addition, a disease onset score (range 0-5) that reflected how quickly the animals developed arthritis was assigned.…”

Section: Methodsmentioning

confidence: 99%

Sex effect on clinical and immunologic quantitative trait loci in a murine model of rheumatoid arthritis

Adarichev¹,

Nesterovitch²,

Bárdos³

et al. 2003

Arthritis & Rheumatism

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Objective. To explore the effect of sex on clinical and immunologic traits in major histocompatibility complex-matched (H-2d) F 2 hybrid mice with proteoglycan (PG)-induced arthritis and to identify how the quantitative trait locus (QTL) on the X chromosome influences the onset QTL of another chromosome.Methods. (BALB/c ؋ DBA/2)F 2 hybrid mice were immunized with cartilage PG, and a genome-wide linkage analysis was performed using >200 simple sequence-length polymorphic markers. The major clinical traits (susceptibility, onset, and severity) were assessed, and PG-specific T and B cell responses, and the production of proinflammatory and antiinflammatory cytokines (tumor necrosis factor ␣, interleukin-1 [IL-1], IL-6, interferon-␥, IL-4, IL-10, and IL-12) were measured in 133 arthritic and 426 nonarthritic female and male F 2 hybrid mice. The major clinical and immunologic traits were linked to genetic loci, and potential linkages among these QTLs and the effect of sex were analyzed.Results. Thirteen QTLs reported in previous studies were confirmed. Binary traits (susceptibility to arthritis) and disease onset were female specific and were identified on chromosomes 3, 7, 10, 11, 13, and X. QTLs for disease severity were mostly male specific and were located on chromosomes 1, 4, 5, 8, 14, 15, and 19. In addition, we identified 4 new QTLs for the onset of arthritis on chromosomes 3, 4, and 11, and 1 new QTL for severity on chromosome 14; all showed a strong gender association. A locus on the X chromosome interacted with a QTL on chromosome 10, and these 2 loci together seemed to control disease incidence and onset. Most of the clinical traits (QTLs) shared common regions with the immunologic traits and frequently showed a locus-locus interaction.Conclusion. Numerous immunologic QTLs overlap with clinical QTLs, thus providing information about possible mechanisms underlying QTL function. Disease susceptibility and onset showed predominant linkage with the female sex, under the control of a QTL on the X chromosome, while the severity QTLs were more strongly linked to the male sex.

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Localization of a gene for familial recurrent arthritis

Cited by 67 publications

References 17 publications

SomaticNLRP3mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes

SomaticNLRP3mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes

A genome‐wide scan for juvenile rheumatoid arthritis in affected sibpair families provides evidence of linkage

Sex effect on clinical and immunologic quantitative trait loci in a murine model of rheumatoid arthritis

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