Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome

AbstractMucin 1/Krebs von den Lungen-6 (KL-6) is proposed as a serum biomarker of several interstitial lung diseases (ILDs), including connective tissue disorders associated with ILD. However, it has not been studied in a large cohort of Caucasian antisynthetase syndrome (ASSD) patients. Consequently, we assessed the role of MUC1 rs4072037 and serum KL-6 levels as a potential biomarker of ASSD susceptibility and for the differential diagnosis between patients with ILD associated with ASSD (ASSD-ILD +) and idiopathic pulmonary fibrosis (IPF). 168 ASSD patients (149 ASSD-ILD +), 174 IPF patients and 523 healthy controls were genotyped for MUC1 rs4072037 T > C. Serum KL-6 levels were determined in a subgroup of individuals. A significant increase of MUC1 rs4072037 CC genotype and C allele frequencies was observed in ASSD patients compared to healthy controls. Likewise, MUC1 rs4072037 TC and CC genotypes and C allele frequencies were significantly different between ASSD-ILD+ and IPF patients. Additionally, serum KL-6 levels were significantly higher in ASSD patients compared to healthy controls. Nevertheless, no differences in serum KL-6 levels were found between ASSD-ILD+ and IPF patients. Our results suggest that the presence of MUC1 rs4072037 C allele increases the risk of ASSD and it could be a useful genetic biomarker for the differential diagnosis between ASSD-ILD+ and IPF patients.

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ROLE OF BAL IN THE DIFFERENTIAL DIAGNOSIS OF ACUTE RESPIRATORY FAILURE IN INTERSTITIAL LUNG DISEASES

CHEST Journal ◽

10.1016/j.chest.2018.08.410 ◽

2018 ◽

Vol 154 (4) ◽

pp. 450A

Author(s):

PAOLA FAVERIO ◽

SILVIA GAMBERINI ◽

LAURA CATTANEO ◽

ALMERICO MARRUCHELLA ◽

GIUSEPPE PACIOCCO ◽

...

Keyword(s):

Differential Diagnosis ◽

Respiratory Failure ◽

Acute Respiratory Failure ◽

Lung Diseases ◽

Interstitial Lung Diseases

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Circulating Leptin Levels as a Potential Biomarker in Inflammatory Bowel Diseases: A Systematic Review and Meta-Analysis

Inflammatory Bowel Diseases ◽

10.1093/ibd/izaa037 ◽

2020 ◽

Author(s):

Larissa Gabriela Ferreira de Carvalho ◽

William Gustavo Lima ◽

Luiz Gonzaga Vaz Coelho ◽

Valbert Nascimento Cardoso ◽

Simone Odília Antunes Fernandes

Keyword(s):

Differential Diagnosis ◽

Inflammatory Bowel Diseases ◽

Meta Analysis ◽

Cochrane Library ◽

Healthy Controls ◽

Serum Leptin ◽

Potential Biomarker ◽

Significant Difference ◽

Bowel Diseases ◽

Inflammatory Bowel

Abstract Background The differential diagnosis of inflammatory bowel diseases (IBDs) between Crohn’s disease (CD) and ulcerative colitis (UC) is important for designing an effective therapeutic regimen. However, without any adequate gold standard method for differential diagnosis currently, therapeutic design remains a major challenge in clinical practice. In this context, recent studies have showed that circulating leptin stands out as a potential biomarker for the categorization of IBDs. Thus, we aimed to summarize the current understanding of the prognostic and diagnostic value of serum leptin in patients with IBDs. Methods A systematic search was performed in PubMed/MEDLINE, Scopus, Cochrane Library, and Web of Science databases. Articles that aimed to study the relationship between circulating levels of leptin and IBDs were included. Finally, the meta-analysis was performed with the mean serum leptin levels in patients with IBDs and healthy controls using RevMan 5.3 software, with I2 > 50% as a criterion for substantial heterogeneity. Results Nineteen studies were included. Serum leptin levels among patients with IBDs and healthy controls did not show a significant difference (95% CI, −2.15 to 0.57; I2, 86%, P ≤ 0.00001). Similarly, there was no association of leptin levels with the activity of IBDs (95% CI, −0.24 to 0.06; I2, 50%; P = 0.13). However, serum leptin levels were significantly higher in patients with CD than those in patients with UC (95% CI, −2.09 to −0.37; I2, 7%; P ≤ 0.36). Conclusion This review suggested that serum leptin levels might be a promising biomarker to help in the differentiation between CD and UC.

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Gremlin-1 for the Differential Diagnosis of Idiopathic Pulmonary Fibrosis Versus Other Interstitial Lung Diseases: A Clinical and Pathophysiological Analysis

Lung ◽

10.1007/s00408-021-00440-y ◽

2021 ◽

Author(s):

Yoichiro Aoshima ◽

Yasunori Enomoto ◽

Shigeki Muto ◽

Shiori Meguro ◽

Hideya Kawasaki ◽

...

Keyword(s):

Differential Diagnosis ◽

Idiopathic Pulmonary Fibrosis ◽

Pulmonary Fibrosis ◽

Lung Diseases ◽

Alveolar Epithelium ◽

Interstitial Lung Diseases ◽

Surfactant Protein D ◽

Healthy Controls ◽

Pulmonary Functions ◽

Gremlin 1

Abstract Purpose The differential diagnosis of interstitial lung diseases (ILDs), particularly idiopathic pulmonary fibrosis (IPF) versus other non-IPF ILDs, is important for selecting the appropriate treatment. This retrospective study aimed to explore the utility of gremlin-1 for the differential diagnosis. Methods Serum gremlin-1 concentrations were measured using an ELISA in 50 patients with IPF, 42 patients with non-IPF ILD, and 30 healthy controls. The baseline clinical data, including pulmonary functions, prognosis, and three serum biomarkers (Krebs von den Lungen-6 [KL6], surfactant protein-D [SP-D], and lactate dehydrogenase [LDH]), were obtained through a medical record review for analyzing their associations with serum gremlin-1 concentrations. To evaluate the origin of gremlin-1, we performed immunostaining on lung sections. Results Serum gremlin-1 concentrations were significantly higher in patients with IPF (mean concentration, 14.4 ng/mL), followed by those with non-IPF ILD (8.8 ng/mL) and healthy controls (1.6 ng/mL). The area under the curve for IPF versus non-IPF ILDs was 0.759 (95% confidence interval, 0.661–0.857), which was superior to that of KL6/SP-D/LDH. The sensitivity and specificity for gremlin-1 (cutoff, 10.4 ng/mL) was 72 and 69%, respectively. By contrast, serum gremlin-1 concentrations were not associated with the pulmonary functions nor the prognosis in all patients with ILDs. In immunostaining, the gremlin-1 was broadly upregulated in IPF lungs, particularly at myofibroblasts, bronchiolar/alveolar epithelium, and CD163-positive M2-like macrophages. Conclusions Gremlin-1 may be a useful biomarker to improve the diagnostic accuracy for IPF compared to non-IPF ILDs, suggesting a role of this molecule in the pathogenesis of IPF.

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Endogenous antibody responses to mucin 1 in a large multiethnic cohort of patients with breast cancer and healthy controls: Role of immunoglobulin and Fcγ receptor genes

Immunobiology ◽

10.1016/j.imbio.2017.10.028 ◽

2018 ◽

Vol 223 (2) ◽

pp. 178-182

Author(s):

Janardan P. Pandey ◽

Aryan M. Namboodiri ◽

Bethany Wolf ◽

Motoki Iwasaki ◽

Yoshio Kasuga ◽

...

Keyword(s):

Breast Cancer ◽

Antibody Responses ◽

Healthy Controls ◽

Fcγ Receptor ◽

Mucin 1 ◽

Multiethnic Cohort

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Macrophage-Derived Biomarkers of Idiopathic Pulmonary Fibrosis

Pulmonary Medicine ◽

10.1155/2011/717130 ◽

2011 ◽

Vol 2011 ◽

pp. 1-7 ◽

Cited By ~ 17

Author(s):

E. Bargagli ◽

A. Prasse ◽

C. Olivieri ◽

J. Muller-Quernheim ◽

P. Rottoli

Keyword(s):

Idiopathic Pulmonary Fibrosis ◽

Pulmonary Fibrosis ◽

Alveolar Macrophages ◽

Biomarker Discovery ◽

Interstitial Lung Diseases ◽

Lung Damage ◽

Diffuse Lung Disease ◽

Potential Biomarker ◽

Cc Chemokines

Idiopathic pulmonary fibrosis (IPF) is a severe, rapidly progressive diffuse lung disease. Several pathogenetic mechanisms have been hypothesized on the basis of the fibrotic lung damage occurring in this disease, and a potential profibrotic role of activated alveolar macrophages and their mediators in the pathogenesis of IPF was recently documented. This paper focuses on recent literature on potential biomarkers of IPF derived from activated alveolar macrophages. Biomarker discovery and clinical application are a recent topic of interest in the field of interstitial lung diseases (ILDs). Cytokines, CC-chemokines, and other macrophage-produced mediators are the most promising prognostic biomarkers. Many molecules have been proposed in the literature as potential biomarker of IPF; however, a rigorous validation is needed to confirm their clinical utility.

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The miR-21 potential of serving as a biomarker for liver diseases in clinical practice

Biochemical Society Transactions ◽

10.1042/bst20200653 ◽

2020 ◽

Vol 48 (5) ◽

pp. 2295-2305

Author(s):

Jiawei Zhang ◽

Dandan Li ◽

Rui Zhang ◽

Peng Gao ◽

Rongxue Peng ◽

...

Keyword(s):

Clinical Practice ◽

Liver Diseases ◽

Hepatic Disease ◽

Noninvasive Detection ◽

Diagnosis And Prognosis ◽

Expected Performance ◽

Potential Biomarker ◽

Disease Condition ◽

Complex Regulatory Network

The role of miR-21 in the pathogenesis of various liver diseases, together with the possibility of detecting microRNA in the circulation, makes miR-21 a potential biomarker for noninvasive detection. In this review, we summarize the potential utility of extracellular miR-21 in the clinical management of hepatic disease patients and compared it with the current clinical practice. MiR-21 shows screening and prognostic value for liver cancer. In liver cirrhosis, miR-21 may serve as a biomarker for the differentiating diagnosis and prognosis. MiR-21 is also a potential biomarker for the severity of hepatitis. We elucidate the disease condition under which miR-21 testing can reach the expected performance. Though miR-21 is a key regulator of liver diseases, microRNAs coordinate with each other in the complex regulatory network. As a result, the performance of miR-21 is better when combined with other microRNAs or classical biomarkers under certain clinical circumstances.

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