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CHIT1 might be considered as a circulating biomarker in polycythemia vera. Additional studies are needed to clarify the role of CHIT1 in promoting disease progression and bone marrow fibrosis in polycythemia vera.
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Data suggest that up-regulation of amniotic fluid chitotriosidase may serve as prenatal diagnostic biomarker for lysosomal storage disorders, more specifically for Gaucher and Niemann-Pick A/B diseases; these findings appear to result from gene duplication. This study was conducted in India.
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Circulating chitotriosidase is a test which can potentially be used for the monitoring of critical limb ischemia patients without other inflammatory conditions.
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All patients with NPC1 mutations had high ChT activity, high CCL18/PARC concentrations and/or Niemann-Pick disease type C suspicion index scores >/=70.
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The total allele frequency of the dup24bp in the CHIT1 gene in the Ukrainian population was determined, which amounted to 0.26 (323/1244) that is higher than in the Western European population.
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the two variations of CHIT1, rs61745299 and rs35920428, increase expression of the gene and are associated with colorectal cancer in Chinese Han populations
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SCD children are at risk of developing premature atherogenic changes. Plasma chitotriosidase and CIMT may represent useful predictors of these changes.
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chitotriosidase as a possible chronic inflammation marker in children with common variable immunodeficiency and early atherosclerosis
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Processivity and the rate constant of dissociation of Human chitotriosidase (HCHT) were found to be in-between those, characteristic to processive exo-enzymes, like SmChiA and randomly acting non-processive endo-enzymes, like SmChiC. Apart from increasing the affinity for chitin, CBM had no major effect on kinetic properties of HCHT.
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PMA stimulation and preincubation with rhDNase increased CHIT-1 activity in culture supernatants from non-CF and CF donors.Stimulation of isolated leucocytes with PMA and treatment with rhDNase interfered with anti-fungal defence mechanisms.
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X-Ray crystal structure of the full length CHIT1 reveals features of its chitin binding domain.
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Deletion in the CHIT1 gene is associated with Chitotriosidase deficiency disease.
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confirmed the strong association between chitotriosidase activity and the markers of progressive kidney disease in a cohort of type 2 diabetic patients; also demonstrated that diabetic patients genetically lacking the full active enzyme (with at least one CHIT1 functionally mutated allele) are at lower risk of developing nephropathy compared to patients having wild genotype
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BALF chitotriosidase activity is increased in patients with sarcoidosis.
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study indicates that genotype analysis by HRM-PCR is a fast, reliable, and highly accurate screening approach for identifying the 24-bp duplication in CHIT1 exon 10.
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CHIT-1 is expressed during the process of differentiation and maturation of dendritic cells in a time-dependent manner.
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No correlation between CHIT1 24-base pair duplication polymorphism and prognosis in sarcoidosis was shown, but possible protective role of homozygous condition for CHIT1 24-base pair duplication polymorphism is suggested.
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the presence of product polymers of 40 sugar moieties and higher starts to disappear already at 8% degradation for HCHT50-W31A. Such behavior contrast that of the wild type and HCHT-W218A and resembles the action of endo-nonprocessive chitinases
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Our findings indicate that chitotriosidase and S10012A are useful in diagnosis and detection of subclinical inflammation and/or assessment of disease activity in FMF patients.
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Serum CHIT1 rs3831317 and CHI3L1 rs4950928 genotypes were examined in patients with asthma and COPD in a European study to evaluate factors that affect chitinase levels in patients with severe airway disease.
