Possible genetic influences in familial sarcoidosis

James, David G.; Piyasena, K. H. G.; Neville, E.; Walker, A. Nimmo; Hamlyn, A N

doi:10.1136/pgmj.50.589.664

Cited by 27 publications

(13 citation statements)

References 12 publications

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“…Consistent with this concept, sarcoidosis clearly has a familial basis, at least in some individuals (53). Furthermore, the exaggerated T cell proliferation, lymphadenopathy, and preferential use of a variable region segment in a clonally diverse fashion in sarcoidosis has interesting parallels to the MRL/Mp-lpr/lpr autoimmune mouse, in which the autosomal recessive lpr gene is responsible for these abnormalities in genetically predisposed mice (18).…”

Section: Methodsmentioning

confidence: 58%

Bias toward use of a specific T cell receptor beta-chain variable region in a subgroup of individuals with sarcoidosis.

Möller¹,

Konishi²,

Kirby³

et al. 1988

J. Clin. Invest.

150

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To evaluate the concept that biases in the usage of T cell antigen receptor 8 variable (V) regions may be manifested in T lymphocytes that accumulate in nonmalignant, T cell-mediated human disorders, a V,8-specific antibody (anti-TI3A, 5REX9H5) was used to evaluate lung and blood T cells in pulmonary sarcoidosis, a chronic granulomatous disorder of unknown etiology. Whereas normal patients had < 5% TL3A+ lung (n = 7) and/or blood (n = 9) lymphocytes, strikingly, a subgroup (8 of 21)

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Section: Methodsmentioning

confidence: 58%

Bias toward use of a specific T cell receptor beta-chain variable region in a subgroup of individuals with sarcoidosis.

Möller¹,

Konishi²,

Kirby³

et al. 1988

J. Clin. Invest.

150

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show abstract

“…While familial clustering of sarcoidosis is recognized [Scadding et al, 1973;James and Hosoda, 19941, little has been done to define a mode of disease inheritance. The few studies of sarcoidosis that examined disease transmission in families were limited by their small samples and rudimentary statistical methods [James et al, 1974;Headings et al, 19761. For example, the study that reported a heritability of 60-70% in African Americans was based on 28 cases in 11 families [Headings et al, 19761, and the calculation of heritability assumed polygenic inheritance without statistically testing other possible modes of inheritance.…”

Section: Discussionmentioning

confidence: 99%

Heterogeneity of familial risk in sarcoidosis

et al. 1996

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“…The pattern of trait inheritance in familial sarcoidosis has been poorly investigated in the past. HEADINGS et al [37] estimated an inheritability of 60±70% in 11 African-American families assuming a polygenic inheritance, whereas JAMES et al [38] suggested a recessive gene inheritance. However, both studies were weakened by a number of problems, including limited sample size.…”

Section: Familial Aggregation Of Sarcoidosismentioning

confidence: 99%

Genetic aspects in sarcoidosis

Luisetti¹,

Beretta²,

Casali³

2000

Eur Respir J

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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.

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Possible genetic influences in familial sarcoidosis

Cited by 27 publications

References 12 publications

Bias toward use of a specific T cell receptor beta-chain variable region in a subgroup of individuals with sarcoidosis.

Bias toward use of a specific T cell receptor beta-chain variable region in a subgroup of individuals with sarcoidosis.

Heterogeneity of familial risk in sarcoidosis

Genetic aspects in sarcoidosis

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