Familial risk estimation in systemic sclerosis

Englert, H.; Small-McMahon, J.; Chambers, P.; O’Connor, Helen M.; Davis, Kevin; Manolios, Nicholas; White, Ray; Dracos, G.; Brooks, Peter

doi:10.1111/j.1445-5994.1999.tb01586.x

Cited by 64 publications

(43 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Our group (4) reported 11 cases of familial SSc in a US cohort of 703 cases, for a prevalence of 1.6%. This was remarkably similar to results of an earlier study by Englert et al (5), who found 10 cases of SSc in firstdegree relatives of 710 SSc probands in an Australian cohort, for a prevalence of 1.4%. A positive family history of SSc, although infrequent, remains the strongest risk factor for SSc yet identified, given its low population prevalence (0.026%) (4).…”

supporting

confidence: 81%

Clinical, immunologic, and genetic features of familial systemic sclerosis

Assassi¹,

Arnett²,

Reveille³

et al. 2007

Arthritis & Rheumatism

View full text Add to dashboard Cite

Objective. To examine whether the affected firstdegree relatives within multicase systemic sclerosis (SSc; scleroderma) families are concordant for autoantibody profile, disease type, and HLA class II haplotypes and whether clinical expression and serologic characteristics of familial SSc differ from those of sporadic SSc.Methods. Seven hundred ten SSc families from the Scleroderma Family Registry and DNA Repository (Scleroderma Registry) were examined, and 18 multicase families were identified. SSc cases and their firstdegree family members underwent serologic testing for different autoantibodies. The disease type and various disease features were abstracted from the available medical records. Additionally, HLA class II typing was performed on the multicase SSc sibpairs.Results. The observed SSc-specific antibody concordance within each multicase SSc family was statistically more common than expected by chance alone (P ‫؍‬ 0.007). The autoantibody profile and disease features of familial and sporadic SSc cases did not differ significantly. The frequency of autoantibody positivity was not different between unaffected first-degree family members of patients from multicase versus singleton SSc families. HLA haplotype sharing between SSc sibpairs was significantly more common than expected (P ‫؍‬ 0.011).Conclusion. The affected members within multicase SSc families tend to be concordant for SSc-specific autoantibodies and HLA haplotypes; familial SSc does not appear to be a unique disease subset.

show abstract

supporting

confidence: 81%

Clinical, immunologic, and genetic features of familial systemic sclerosis

Assassi¹,

Arnett²,

Reveille³

et al. 2007

Arthritis & Rheumatism

View full text Add to dashboard Cite

show abstract

“…Studies of SSc in families and twins are particularly important in determining the relative role of genetic and environmental factors in the development of SSc. Familial SSc studies have shown an absolute risk of 1.0-1.7% in first-degree relatives [33,34], suggesting a genetic contribution to disease pathogenesis. In our studies of twins with SSc, we found a low concordance (4.7%) for SSc, but a high concordance for the presence of antinuclear antibodies (> 90%) and shared gene expression profiles of dermal fibroblasts from monozygotic twins [35••, 36].…”

Section: Genetic Factorsmentioning

confidence: 99%

Pathogenesis of Pulmonary Fibrosis in Systemic Sclerosis: Lessons from Interstitial Lung Disease

2010

View full text Add to dashboard Cite

Interstitial lung disease is a frequent complication of systemic sclerosis and currently is the leading cause of death. Our ability to predict which individuals are at greatest risk of developing clinically significant, progressive interstitial lung disease remains inadequate. Identification of circulating autoantibodies and other biomarkers, as well as genetic polymorphisms and aberrant gene expression, all hold promise as diagnostic and prognostic tools, as well as therapeutic targets. Many practice patterns for the diagnosis and monitoring of connective tissue disease-associated interstitial lung disease are based upon published experience with idiopathic interstitial lung diseases. Although there are likely commonalities in the pathophysiologic mechanisms and clinical progression among all fibrosing lung diseases, a better understanding of features unique to systemic sclerosis-associated interstitial lung disease is essential to the development of more effective monitoring and treatment strategies.

show abstract

“…Evidence suggesting that genetic factors contribute to the disease includes the familial clustering of SSc, the high frequency of other autoimmune disorders in relatives of affected patients, and the reported effect of ethnicity on the clinical presentation and outcome of the disease [65,73,74]. In addition, environmental agents (such as viruses, drugs, chemicals etc.)…”

Section: Systemic Sclerosis (Ssc)mentioning

confidence: 97%