Considering an infectious etiology of sarcoidosis

Ezzie, Michael E.; Crouser, Elliott D.

doi:10.1016/j.clindermatol.2007.03.003

Cited by 21 publications

(14 citation statements)

References 69 publications

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“…It is known as a disease of young adults, with an annual incidence between ,1 and 64 cases per 100,000 persons, depending on ethnicity and geographic region [1]. The cause of sarcoidosis is still unknown but it is thought to be triggered by a complex combination of yet unknown environmental [2,3] and genetic factors [4]. Evidence for a strong genetic component is provided by twin and family studies, which have shown a higher concordance rate of sarcoidosis in monozygotic compared with dizygotic twins (0.148 versus 0.012) and a heritability of 66% [5].…”

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confidence: 99%

A genome-wide association study reveals evidence of association with sarcoidosis at 6p12.1

Hofmann

Fischer

Till

et al. 2011

European Respiratory Journal

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Sarcoidosis is a complex systemic inflammatory disease of unknown aetiology that is influenced by a variety of genetic and environmental factors.\ud To identify further susceptibility loci for sarcoidosis, a genome-wide association study (GWAS) was conducted in 381 patients and 392 control individuals based on Affymetrix 100k GeneChip data. The top 25 single-nucleotide polymorphisms (SNPs) were selected for validation in an independent study panel (1,582 patients versus 1,783 controls).\ud Variant rs10484410 on chromosome 6p12.1 was significantly associated, with a Bonferroni-corrected p-value of 2.90×10−2 in the validation sample and a nominal p-value of 2.64×10−4 in the GWAS. Extensive fine mapping of the novel locus narrowed down the signal to a region comprising the genes BAG2, C6orf65, KIAA1586, ZNF451 and RAB23. Verification of the sarcoidosis-associated nonsynonymous SNP rs1040461 in a further independent case–control sample and quantitative mRNA expression studies point to the RAB23 gene as the most likely risk factor. RAB23 is proposed to be involved in antibacterial defence processes and regulation of the sonic hedgehog signalling pathway.\ud The identified association of the 6p12.1 locus with sarcoidosis implicates this locus as a further susceptibility factor and RAB23 as a potential signalling component that may open up new perspectives in the pathophysiology of sarcoidosis

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confidence: 99%

A genome-wide association study reveals evidence of association with sarcoidosis at 6p12.1

Hofmann

Fischer

Till

et al. 2011

European Respiratory Journal

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“…An infectious etiology of sarcoidosis has long been suspected. Recently, scientific evidence provided a strong link between infectious agents and sarcoidosis (Ezzie and Crouser, 2007). On the other hand, the fact that sarcoidosis varies across ethnic groups, with African-Americans and northern Europeans having higher rates of disease than southern Europeans and Japanese, strongly suggests that a genetic predisposition exists (Kreider et al, 2005;Margolis and Lowder, 2007;Rossman and Kreider, 2007).…”

Section: Introductionmentioning

confidence: 99%

Association of TLR4 Single-Nucleotide Polymorphisms and Sarcoidosis in Greek Patients

Iliadi

Tzetis

Tsipi

et al. 2009

Genetic Testing and Molecular Biomarkers

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The present study investigates the potential role of Toll-like receptor 4 (TLR4) Asp299Gly and Thr399Ile single-nucleotide polymorphisms (SNPs) as risk factors in the development of sarcoidosis using a novel high-throughput microtiter well-based bioluminometric genotyping assay. One hundred and nineteen Greek patients with sarcoidosis and 209 control subjects were genotyped for the two SNPs of the TLR4 gene. The genotypes observed were in Hardy-Weinberg equilibrium. The heterozygote frequency for both SNPs in sarcoidosis group and control population was 13.4% (16/119) and 10.5% (22/209), respectively. The minor genotype was found to be the same for both sarcoidosis and control groups and similar to that found in other Caucasian populations. No significant association of Asp299Gly and Thr399Ile polymorphisms with increased susceptibility to sarcoidosis was found (p = 0.61 and odds ratio = 1.183). In conclusion, genotype data for the TLR4 Asp299Gly and Thr399Ile polymorphisms in the Greek population were found to be in linkage disequilibrium, and no contribution in the pathogenesis of sarcoidosis was established. Further, in course of the present study, we demonstrated a very simple and sensitive high-throughput bioluminometric assay for genotyping Asp299Gly and Thr399Ile polymorphisms in the TLR4 gene.

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“…There are numerous ongoing challenges regarding infectious pathogens and their association with this condition. Transmission of sarcoidosis to healthy individuals following bone marrow transplantation and the possibility of pulmonary sarcoidosis development due to infusion of inactivated proteins from sarcoidosis‐affected tissues, enhances the role of infectious agents …”

Section: Introductionmentioning

confidence: 99%

“…In general, in the occurrence of autoimmune diseases, mainly sarcoidosis, the host's immune status and genetic and also racial factors play an important role in the tropism and approach of the virus . Human T‐cell lymphotropic virus type 1 (HTLV‐1) has affinity toward T‐lymphocytes and causes a disturbance in delayed hypersensitivity.…”

Section: Introductionmentioning

confidence: 99%

“…In a study conducted in Japan, the association between retroviruses, especially HTLV‐1 and sarcoidosis, was brought up, yet no epidemiologic study has so far confirmed this finding . Following contamination with this virus, HTLV‐1‐specific cytotoxic cells identify the viral proteins having bonded with major histocompatibility complex (MHC) class 1 on infected cells.…”

Section: Introductionmentioning

confidence: 99%

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HTLV‐1 seroprevalance in sarcoidosis. A clinical and laboratory study in northeast of Iran

et al. 2017

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Considering an infectious etiology of sarcoidosis

Cited by 21 publications

References 69 publications

A genome-wide association study reveals evidence of association with sarcoidosis at 6p12.1

A genome-wide association study reveals evidence of association with sarcoidosis at 6p12.1

Association of TLR4 Single-Nucleotide Polymorphisms and Sarcoidosis in Greek Patients

HTLV‐1 seroprevalance in sarcoidosis. A clinical and laboratory study in northeast of Iran

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