Genetic aspects in sarcoidosis

Luisetti, Maurizio; Beretta, Anna; Casali, Lucio

doi:10.1034/j.1399-3003.2000.16d31.x

Cited by 68 publications

(44 citation statements)

References 72 publications

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“…Among various cytokines influencing formation and maintenance of granuloma, it has been proposed that interferon-c (IFN-c), interleukin-2 (IL-2), interleukin-12 (IL-12), interleukin-15 (IL-15) and tumor necrosis factor-a (TNF-a) play a central role in this process. Besides, other mediators are involved in granuloma formation and persistence such as angiotensin-converting enzyme (ACE) (Luisetti et al 2000;Baughman et al 2003).…”

Section: Introductionmentioning

confidence: 99%

Role of genetic polymorphisms in ACE and TNF-α gene in sarcoidosis: a meta-analysis

et al. 2007

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A great number of association studies have been performed to identify the genes involved in the etiology and prognosis of sarcoidosis. We performed a systematic review of case-control studies through the PubMed database and evaluated them for a possible inclusion into a meta-analysis in order to assess whether the reported genetic polymorphisms are the risk factors of sarcoidosis. Case-control studies with clear diagnostic criteria and interventions were included. Only investigations of a single polymorphism/gene involvement in sarcoidosis reported more than five times were selected. Aggregating data from 12 studies on ID/ACE polymorphisms, the odds ratio (OR) for sarcoidosis, if the polymorphism was considered under the dominant genetic model, was not significantly increased: 1.19 (95% CI 0.98-1.43); OR under the recessive model was 1.20 (95% CI 0.98-1.46). In seven case-control studies on -308/TNF-a polymorphism, the OR for sarcoidosis if the polymorphism considered under the dominant genetic model was significantly increased at 1.47 (95% CI 1.03-2.08); the OR under the recessive model was 1.39 (95% CI 0.67-2.90). In conclusion, the results showed that the TNF-a genotype could be a significant risk factor for sarcoidosis, whereas the risk of sarcoidosis due to the ACE genotype was not substantially elevated.

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Section: Introductionmentioning

confidence: 99%

Role of genetic polymorphisms in ACE and TNF-α gene in sarcoidosis: a meta-analysis

et al. 2007

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“…A likely explanation for these inconsistent results lies in genetic heterogeneity among different populations, a feature that is well known in other ubiquitous disorders, such as sarcoidosis [10]. However, another critical point in planning a genetic investigation on a complex trait is the phenotype choice, and poor definition of the phenotype and/or heterogeneity of the condition are likely to reduce the power to find significant association [11].…”

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confidence: 99%

Tumour necrosis factor family genes in a phenotype of COPD associated with emphysema

Ferrarotti¹,

Zorzetto²,

Beccaria³

et al. 2003

Eur Respir J

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Genetic factors are believed to play a role in the individual susceptibility to chronic obstructive pulmonary disease (COPD). Tumour necrosis factor (TNF) family genes have been widely investigated but inconsistent results may lie either in the genetic heterogeneity of populations or in the poor phenotype definition. A genetic study was performed using a narrower phenotype of COPD.The authors studied 86 healthy smokers and 63 COPD subjects who were enrolled based on irreversible airflow obstruction (forced expiratory volume in one second/forced vital capacity v70% predicted) and a diffusing capacity for carbon monoxide v50% predicted (moderate-to-severe COPD associated with pulmonary emphysema). The following polymorphisms were investigated: TNF-308, the biallelic polymorphism located in the first intron of the lymphotoxin-a gene, and exon 1 and exon 6 of the TNF receptor 1 and 2 genes, respectively.No significant deviations were found concerning the four polymorphisms studied between the two populations.The authors confirm that the tumour necrosis factor family genes, at least for the polymorphisms investigated, are not major genetic risk factors for chronic obstructive pulmonary disease in Caucasians, either defined in terms of emphysema (this study) or airflow obstruction (previous studies). Nevertheless, the authors would like to emphasise the importance of narrowing the phenotype in the search for genetic risk factors in chronic obstructive pulmonary disease. Eur Respir J 2003; 21: 444-449.

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“…Large numbers of affected families and repeated genome-wide linkage studies were necessary to confirm the existence of a gene involved in Crohn9s disease in the same chromosomal region [12][13][14] and this strategy finally led to the identification of CARD15 gene mutations as major contributors to Crohn9s disease susceptibility [15][16][17]. In sarcoidosis, genome-wide linkage information is so far limited to one report [28], showing a main peak at the major histocompatability complex region on the short arm of chromosome 6, in agreement with results of numerous association studies [30][31][32]. However, this peak cannot fully explain the increased familial recurrence risk found in different studies in European populations [6,7,9] and in the USA [8].…”

Section: Discussionmentioning

confidence: 54%

CARD15 gene mutations in sarcoidosis

Schürmann¹,

Valentonyte²,

Hampe³

et al. 2003

Eur Respir J

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Sarcoidosis, Blau syndrome and Crohn's disease are complex disorders, characterised by granulomatous inflammation affecting a variety of organs. Mutations of the CARD15 gene, on chromosome 16, have been shown to contribute significantly to Crohn's disease and to cause Blau syndrome. These factors prompted the current authors to study CARD15 mutations in sarcoidosis.A total of 138 families were genotyped, including 302 patients with sarcoidosis and 127 patients without a family history of sarcoidosis (together with their parents), for four main coding CARD15 polymorphisms associated with increased risk of Crohn's disease. Furthermore, the gene segment that harbours Blau syndrome mutations was sequenced in 39 selected patients from 39 families with affected siblings identical for one or two parental chromosomes 16s and in eight patients from multi-case families.None of the reported Blau syndrome mutations and no new sequence alterations were found. There was an increased frequency of transmission of the rare allele of the polymorphic sites 802C>T (SNP5) and 2722G>C (SNP12) in at least one of the two study groups.In conclusion, CARD15 mutations, which are important in Crohn's disease and Blau syndrome, play no major role in sarcoidosis in this study population. However, these mutations could be of limited importance, especially in patients without a family history of sarcoidosis.

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Genetic aspects in sarcoidosis

Cited by 68 publications

References 72 publications

Role of genetic polymorphisms in ACE and TNF-α gene in sarcoidosis: a meta-analysis

Role of genetic polymorphisms in ACE and TNF-α gene in sarcoidosis: a meta-analysis

Tumour necrosis factor family genes in a phenotype of COPD associated with emphysema

CARD15 gene mutations in sarcoidosis

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