Association of <i>TGF-β3</i> and <i>ANXA11</i> with pulmonary sarcoidosis in Greek population

Sikorova, Katerina; Kishore, Amit; Rapti, Ageliki; Adam, Kalliopi; Kocourková, Lenka; Žižková, Veronika; Charikiopoulou, Maria; Kalianos, Anastasios; Bouros, Evangelos; Bouros, Demosthenes; Petřek, Martin

doi:10.1080/17476348.2020.1784729

Cited by 11 publications

(8 citation statements)

References 25 publications

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“…Additional studies have been performed in African American patients by checking 209 SNPs in the ANXA11 gene, and found that new rare variants are independently associated with the risk of disease susceptibility and radiographic stage, while some others have a protective effect, and finally suggesting that the relationship between genetic variants in ANXA11 and sarcoidosis risk is more complex among people of African origin [56,57]. A similar observation was done recently in a cohort of 103 Greek sarcoidosis patients [58]. A non-coding SNP (rs61860052) of Annexin A11 has been associated with an increased risk of sarcoidosis-associated uveitis and other variants with pulmonary fibrosis in African American patients [59].…”

Section: Other Pathways Identified By Gwas In Sarcoidosis Etiologymentioning

confidence: 65%

Current Insights in Genetics of Sarcoidosis: Functional and Clinical Impacts

Calender

Weichhart

Valeyre

et al. 2020

JCM

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Sarcoidosis is a complex disease that belongs to the vast group of autoinflammatory disorders, but the etiological mechanisms of which are not known. At the crosstalk of environmental, infectious, and genetic factors, sarcoidosis is a multifactorial disease that requires a multidisciplinary approach for which genetic research, in particular, next generation sequencing (NGS) tools, has made it possible to identify new pathways and propose mechanistic hypotheses. Codified treatments for the disease cannot always respond to the most progressive forms and the identification of new genetic and metabolic tracks is a challenge for the future management of the most severe patients. Here, we review the current knowledge regarding the genes identified by both genome wide association studies (GWAS) and whole exome sequencing (WES), as well the connection of these pathways with the current research on sarcoidosis immune-related disorders.

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Section: Other Pathways Identified By Gwas In Sarcoidosis Etiologymentioning

confidence: 65%

Current Insights in Genetics of Sarcoidosis: Functional and Clinical Impacts

Calender

Weichhart

Valeyre

et al. 2020

JCM

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“…However, the association between ANXA11 and sarcoidosis, which was for the first time described in a German cohort by Hofmann et al [3] is unique for sarcoidosis. Several studies have replicated these results and showed an association with the ANXA11 Single Nucleotide Polymorphism (SNP) rs1049550 and sarcoidosis [4][5][6][7][8][9]. All studies found that carriage of the minor T allele conferred protection for sarcoidosis, as the minor T allele frequency was lower in sarcoidosis patients than in controls.…”

Section: Introductionmentioning

confidence: 89%

“…For meta-analysis, we included six previous studies [3][4][5][6][7][8] describing the association between ANXA11 rs1049550 and sarcoidosis and the current findings (Table 4 and Figure 1). One study [9] that did not describe the genotype frequencies was added to Table 4 to provide a complete overview of studies performed, but could not be included in the meta-analysis. The meta-analysis showed that sarcoidosis patients have a significantly lower T allele frequency in comparison to controls, with a pooled OR of 0.70 (95% CI 0.66-0.75, p = 3.58 × 10 −29 ).…”

Section: Meta-analysismentioning

confidence: 99%

ANXA11 rs1049550 Associates with Löfgren’s Syndrome and Chronic Sarcoidosis

Karakaya

Vis

Veltkamp

et al. 2022

Cells

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Sarcoidosis is an immune mediated granulomatous disease commonly affecting the lungs. Genome wide association studies identified many genomic regions that are shared among multiple immune mediated diseases. However, ANXA11 gene polymorphism rs1049550 is exclusively associated with sarcoidosis, making it a key gene of interest for sarcoidosis disease pathogenesis. However, sarcoidosis is a heterogeneous disease and contradictory findings for ANXA11 have been reported for disease phenotypes. We performed a case–control association study to investigate if ANXA11 associates with benign (Löfgren’s syndrome (LS)) or chronic sarcoidosis and performed a meta-analysis on previously reported findings. A total of 262 sarcoidosis patients, of which 149 had LS and 113 chronic sarcoidosis, and 363 controls were genotyped for rs1049550. Meta-analysis included allele findings for rs1049550 from 6 additional studies. We found a significantly lower T allele frequency in sarcoidosis patients than in healthy controls (0.30 vs. 0.41, respectively, odds ratio (OR) 0.61, 95% confidence interval (CI) 0.48–0.77, p = 3 × 10−5). In LS the T allele frequency of 0.33, and in chronic sarcoidosis the T allele frequency of 0.26 were significantly lower than in healthy controls (OR 0.69, 95% CI 0.52–0.92, p = 0.01 and OR 0.51, 95% CI 0.36–0.70, p = 4 × 10−5, respectively). Meta-analysis including previously published European, African American and Asian cohorts confirmed the association of rs1049550 with sarcoidosis and resulted in a pooled OR of 0.70 (CI 0.66–0.75, p = 3.58 × 10−29). Presence of the T allele of rs1049550 in ANXA11 is protective for sarcoidosis, including benign and chronic phenotypes of the disease.

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“…The thermocycling conditions on the LightCycler 480 system (Roche Diagnostics) were: 5 min at 95˚C; followed by 45 cycles of 95˚C for 10 sec, 60˚C for 45 sec and 72˚C for 1 sec (acquisition was performed each cycle) and then 40˚C for 30 sec. The data was obtained by endpoint analysis ( 27 ).…”

Section: Methodsmentioning

confidence: 99%

Effect of genotype on the disease course in idiopathic pulmonary fibrosis despite antifibrotic treatment

et al. 2021

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A genetic predisposition has been identified in 30% of idiopathic pulmonary fibrosis (IPF) cases. Although it is highly probable that the genotype affects the disease susceptibility and course in almost all patients, the specific genotype goes undetected. The aim of the present study was to explore the effects of variants of the genes encoding interleukin-4 (IL-4), mucin 5B (MUC5B), toll interacting protein (TOLLIP), surfactant protein A (SFPTA), transforming growth factor-β (TGF-β) and transporters associated with antigen processing (TAP1 and TAP2) on the course of IPF. A total of 50 patients with IPF were enrolled, and variants of these genes were assessed. Lung function at the time of diagnosis and after 6, 12 and 18 months, and the number of acute exacerbations and deaths in each observation period were measured. ANOVA was used to test the association between gene polymorphisms and the decrease in lung function. There was no significant effect of the gene polymorphisms on the outcomes of patients up to 6 months during the observation period. After 12 months, an effect of an IL-4 single nucleotide polymorphism (SNP) (rs 2070874) on patient outcomes was observed [relative risk (RR) for T allele: 5.6; 95% confidence interval (CI), 0.79-39.0; P=0.053]. The RR of progression in patients with the IL-4 SNP (rs 2243250) and the CT and TT genotypes was 4.3 (95% CI, 1.1-17.5; P=0.046). A total of 18 months after the diagnosis of IPF, an effect of the TOLLIP polymorphism on patient outcome was detected (rs 111521887; risk allele GC; RR: 7.2; 95% CI, 0.97-53.6; P=0.052). Thus, IL-4 and TOLLIP gene polymorphisms may represent disease course-modifying factors, but not drivers of IPF.

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Association of TGF-β3 and ANXA11 with pulmonary sarcoidosis in Greek population

Cited by 11 publications

References 25 publications

Current Insights in Genetics of Sarcoidosis: Functional and Clinical Impacts

Current Insights in Genetics of Sarcoidosis: Functional and Clinical Impacts

ANXA11 rs1049550 Associates with Löfgren’s Syndrome and Chronic Sarcoidosis

Effect of genotype on the disease course in idiopathic pulmonary fibrosis despite antifibrotic treatment

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