Sarcoidosis

Newman, Lee S.; Rose, Cecile S.; Maier, Lisa A.

doi:10.1056/nejm199704243361706

Cited by 1,333 publications

(990 citation statements)

References 129 publications

Supporting

Mentioning

863

Contrasting

Unclassified

Order By: Relevance

“…Mortality rates are reported to be similar among races [1]. However, a study of sarcoidosis or its complication mortality in the USA from 1979±1991, showed consistently higher age-adjusted mortality rates among African-Americans than among Caucasians [21].…”

Section: Relationship Between Genetic and Environmental Factors Affecmentioning

confidence: 99%

“…Sarcoidosis is an immune-mediated multiorgan disorder of unknown origin, characterized by the presence of noncaseating granulomata [1]. The earliest step in the immunological events leading to granuloma formation is the accumulation of T-lymphocytes and mononuclear phagocytes in the affected organs, activated CD45R0+ve T-helper (Th)1-type T-cells being central to this infiltration.…”

mentioning

confidence: 99%

See 1 more Smart Citation

Genetic aspects in sarcoidosis

Luisetti¹,

Beretta²,

Casali³

2000

Eur Respir J

View full text Add to dashboard Cite

Sarcoidosis is an immune-mediated, multiorgan, granulomatous disorder thought to be triggered by an intricate combination of environmental and genetic factors. Two robust lines of evidence support the hypothesis of a genetic component in the pathogenesis of sarcoidosis: racial variation in its epidemiology and familial clustering of cases. The relationship between epidemiology and environmental factors affecting variations in sarcoidosis incidence/prevalence and presentation are reviewed, as well as strategies to be pursued in the search for susceptibility genes for the disorder.Pathogenic processes leading to sarcoid granuloma formation and maintenance have prompted investigators interested in the genetics of sarcoidosis to focus mainly on major histocompatibility complex genes, and indeed a remarkable amount of data has been accumulated during the last two decades. Whilst in contrast with some autoimmune disorders a clear association between human leukocyte antigen (HLA) and sarcoidosis is still a controversial issue, there is, however, a general agreement that some HLA genes are related to phenotypic variations of the disease. Some genetic investigators have focused on T-cell receptor genes, immunoglobulin genes, angiotensin converting enzyme gene, chemokine genes and others.From a review of studies performed in different racial and ethnic groups, a reasonable suggestion arises that genetic factors are the major determinant in the racial variations in the epidemiology of the disorder. This assumption is, however, so far limited by lack of studies considering both genetic and environmental factors simultaneously. Eur Respir J 2000; 16: 768±780.

show abstract

Section: Relationship Between Genetic and Environmental Factors Affecmentioning

confidence: 99%

mentioning

confidence: 99%

Genetic aspects in sarcoidosis

Luisetti¹,

Beretta²,

Casali³

2000

Eur Respir J

View full text Add to dashboard Cite

show abstract

“…47 Although we cannot exclude the possibility that some of these associations are due to typed or untyped coding variation, we note that the coding variation in the Hutterites appears to be confined to one or a few haplotypes. Markers that tag these haplotypes, as well as the typed Asp57fs and Ile184Arg variants in IFNA17, were not strongly associated with any phenotypes in the single variant analysis, although most were infrequent (B0.06) in the Hutterites and, as a result, our power to detect associations with these SNPs was limited.…”

Section: Discussionmentioning

confidence: 81%

“…48 Despite the fact that the association was with two coding polymorphisms, cells from individuals with different haplotype combinations showed different expression levels of IFN-a protein, with the high IFN-aproducing haplotype associated with increased risk for sarcoidosis, consistent with the disease resulting from a Th1-mediated mechanism. 47 This result was interpreted as evidence for the presence of additional variation on the associated haplotype that influences transcription or expression of IFN genes. Our study, which implicates noncoding variation in the IFN gene cluster in risk for Th2-mediated diseases, is consistent with the suggestion that disease-associated variation affects expression levels of one or more genes.…”

Section: Discussionmentioning

confidence: 99%

Variation in the type I interferon gene cluster on 9p21 influences susceptibility to asthma and atopy

et al. 2006

View full text Add to dashboard Cite

A genome-wide screen for asthma and atopy susceptibility alleles conducted in the Hutterites, a founder population of European descent, reported evidence of linkage with a short tandem repeat polymorphism (STRP) within the type I interferon (IFN) gene cluster on chromosome 9p21. The goal of this study was to identify variation within the IFN gene cluster that influences susceptibility to asthma and atopic phenotypes. We screened approximately 25 kb of sequence, including the flanking sequence of all 15 functional genes and the single coding exon in 12, in Hutterites representing different IFNA-STRP genotypes. We identified 78 polymorphisms, and genotyped 40 of these (in 14 genes) in a large Hutterite pedigree. Modest associations (0.003oPo0.05) with asthma, bronchial hyper-responsiveness (BHR), and atopy were observed with individual variants or genes, spanning the entire 400 kb region. However, pairwise combinations of haplotypes between genes showed highly significant associations with different phenotypes (Po10 À5 ) that were localized to specific pairs of genes or regions of this cluster. These results suggest that variation in multiple genes in the type I IFN cluster on 9p22 contribute to asthma and atopy susceptibility, and that not all genes contribute equally to all phenotypes.

show abstract

“…It has been suggested that exposure of genetically susceptible individuals to particular environmental mediators can result in the development of the disease. Any organ can be involved, but lung, skin, and eye manifestations are more frequently observed 1 , 2 , 4 . Sarcoidosis is a self‐limited disorder, resolving spontaneously in up to 60% of patients.…”

Section: Introductionmentioning

confidence: 99%

Influenza vaccination in patients with pulmonary sarcoidosis: efficacy and safety

Tavana

Argani

Gholamin

et al. 2011

Influenza Resp Viruses

View full text Add to dashboard Cite

Please cite this paper as: Tavana et al. (2011) Influenza vaccination in patients with pulmonary sarcoidosis: efficacy and safety. Influenza and Other Respiratory Viruses DOI: 10.1111/j.1750‐2659.2011.00290.x. Background Sarcoidosis is an inflammatory, granulomatous disorder of unknown etiology. The role of cellular and humoral immune systems in this disease is unclear, whereas dysregulation of the immune system is suggested. Patients with sarcoidosis show diverse responses while exposed to various antigens. Although influenza vaccination is recommended in pulmonary sarcoidosis, its efficacy and safety has not been investigated. Objectives To evaluate safety and immunogenicity of influenza vaccine in patients with sarcoidosis. Patients/Methods Influenza vaccination was performed in 23 eligible patients with sarcoidosis (SP) and 26 healthy controls (HC). Antibody titers against H1N1, H3N2, and B influenza virus antigens were evaluated just before and 1 month after vaccination. Patients were followed for 6 months to assess vaccine safety. Results Serological response and magnitude of changes in antibody titers against influenza vaccine antigens were comparable between SPs and HCs. Women showed a better serological response against B antigen (P = 0·034) than men. Twenty‐four‐hour urine calcium was associated with antibody response against H1N1 [correlation coefficient (CC) = 0·477, P = 0·003] and H3N2 (CC = 0·352, P = 0·028) antigens. Serum angiotensin‐converting enzyme correlated negatively with antibody response against B antigen (CC = −0·331, P = 0·040). Higher residual volume was associated with fewer rises in antibody titer against H3N2 antigen (CC = −0·377, P = 0·035). No major adverse events or disease flare‐up was observed during follow‐up. Conclusions In this study, influenza vaccination did not cause any major adverse event in SPs, and their serological response was equal to HCs. Studies with larger sample size and a broader selection of subjects could help validate the results of this study.

show abstract

Sarcoidosis

Cited by 1,333 publications

References 129 publications

Genetic aspects in sarcoidosis

Genetic aspects in sarcoidosis

Variation in the type I interferon gene cluster on 9p21 influences susceptibility to asthma and atopy

Influenza vaccination in patients with pulmonary sarcoidosis: efficacy and safety

Contact Info

Product

Resources

About