ArticleGenes and immunity2003
A 24-bp duplication in exon 10 of human chitotriosidase gene from the sub-Saharan to the Mediterranean area: role of parasitic diseases and environmental conditions.
Article in Genes and immunity, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 96 citations in OpenAlex.
- Human chitinases and chitinase-like proteins as emerging drug targets - a medicinal chemistry perspective.RSC medicinal chemistry · 2025Review
- Exploiting the role of CSF NfL, CHIT1, and miR-181b as potential diagnostic and prognostic biomarkers for ALS.Journal of neurology · 2024Article
- Data-independent acquisition proteomics of cerebrospinal fluid implicates endoplasmic reticulum and inflammatory mechanisms in amyotrophic lateral sclerosis.Journal of neurochemistry · 2024Article
- Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients.International journal of molecular sciences · 2023Article
- Monocyte-Derived Macrophages Contribute to Chitinase Dysregulation in Amyotrophic Lateral Sclerosis: A Pilot Study.Frontiers in neurology · 2021Article
- Fluid Biomarkers of Frontotemporal Lobar Degeneration.Advances in experimental medicine and biology · 2021Article
- Chitotriosidase: a marker and modulator of lung disease.European respiratory review : an official journal of the European Respiratory Society · 2020Review
- Chitotriosidase as a Novel Biomarker for Therapeutic Monitoring of Nephropathic Cystinosis.Journal of the American Society of Nephrology : JASN · 2020Article
- Chitinases: Therapeutic Scaffolds for Allergy and Inflammation.Recent patents on inflammation & allergy drug discovery · 2020Review
- Chitinases and Chitinase-Like Proteins in Obstructive Lung Diseases - Current Concepts and Potential Applications.International journal of chronic obstructive pulmonary disease · 2020Review
- CSF biomarkers of neuroinflammation in distinct forms and subtypes of neurodegenerative dementia.Alzheimer's research & therapy · 2019Article
- Evaluation of chitotriosidase as a biomarker for adipose tissue inflammation in overweight individuals and type 2 diabetic patients.International journal of obesity (2005) · 2019Article
- Regulation and Role of Chitotriosidase during Lung Infection withJournal of immunology (Baltimore, Md. : 1950) · 2018Article
- Innate Immunity of the Lung: From Basic Mechanisms to Translational Medicine.Journal of innate immunity · 2018Review
- Immunomodulatory Effects of Chitotriosidase Enzyme.Enzyme research · 2016Review
- Chitotriosidase Expression during Monocyte-Derived Dendritic Cells Differentiation and Maturation.Inflammation · 2015Article
- Chitin recognition via chitotriosidase promotes pathologic type-2 helper T cell responses to cryptococcal infection.PLoS pathogens · 2015Article
- Chitotriosidase in the Pathogenesis of Inflammation, Interstitial Lung Diseases and COPD.Allergy, asthma & immunology research · 2015Review
- High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasites.Carbohydrate polymers · 2014Article
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Human chitotriosidase (Chit) is a member of the chitinase family and it is synthesized by activated macrophages. Recently, a genetic polymorphism was found to be responsible for the common deficiency in Chit activity, frequently encountered in different populations. We analyzed the Chit gene in some ethnic groups from the Mediterranean and African areas, to evaluate whether the Chit gene polymorphism correlates with the changes in environmental features and the disappearance of parasitic diseases. We found a heterozygote frequency for the duplication of 24 bp in exon 10 of 44% in Sicily and 32.71% in Sardinia, whereas those homozygous Chit deficient were 5.45 and 3.73%, respectively. In contrast, in Benin and Burkina Faso, both mesoendemic regions for Plasmodium falciparum malaria and other infections due to intestinal parasites, a low incidence of Chit mutation was found (heterozygous 0 and 2%, respectively) and no subject was homozygous for Chit deficiency. Our results provide evidence of the fact that the low frequency or the absence of mutant Chit gene may represent a protective factor in the population still living in disadvantaged environmental conditions. The present study suggests that the disappearance of parasitic diseases and the improved environmental conditions may have ensued the occurrence of a high percentage of 24-bp mutation in Sicily, in Sardinia and in other Mediterranean countries, whereas in the sub-Saharan regions (Benin and Burkina Faso), the widespread parasitic diseases and the poor social status have contributed to maintenance of the wild-type Chit gene.
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