ArticleBlood cells, molecules & diseases
Human chitotriosidase polymorphisms G354R and A442V associated with reduced enzyme activity.
Article in Blood cells, molecules & diseases. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1.Orphanet journal of rare diseases · 2022Guideline
- Glucosylsphingosine (Lyso-Gb1): An Update on Its Use as a Biomarker in Gaucher Disease.International journal of molecular sciences · 2026Review
- An Important Question: Can Serum Chitotriosidase Enzyme Predict the Activity and Clinical Course of Sarcoidosis Disease?Thoracic research and practice · 2025Article
- Serum chitotriosidase-1 (CHIT1) as candidate biomarker for mitochondriopathies.Journal of neurology · 2025Article
- Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients.International journal of molecular sciences · 2023Article
- Lysosomal storage disorders: from biology to the clinic with reference to India.The Lancet regional health. Southeast Asia · 2023Review
- Exploratory Longitudinal Analysis of the Circulating CHIT1 Activity in Pediatric Patients with Obesity.Children (Basel, Switzerland) · 2023Article
- Evaluation of Circulating Chitotriosidase Activity in Children with Obesity.Journal of clinical medicine · 2022Article
- CSF chitinases before and after symptom onset in amyotrophic lateral sclerosis.Annals of clinical and translational neurology · 2020Article
- Chitotriosidase: a marker and modulator of lung disease.European respiratory review : an official journal of the European Respiratory Society · 2020Review
- Host-Pathogen Interactions in Coccidioidomycosis: Prognostic Clues and Opportunities for Novel Therapies.Clinical therapeutics · 2019Review
- Identification of Active Sarcoidosis Using Chitotriosidase and Angiotensin-Converting Enzyme.Lung · 2019Article
- Gene expression profile in patients with Gaucher disease indicates activation of inflammatory processes.Scientific reports · 2019Article
- The Genetic Polymorphisms of 24 Base Pair Duplication and Point G102S of Human Chitotriosidase to Bancroftian Filariasis at the Thai⁻Myanmar Border.Pathogens (Basel, Switzerland) · 2019Article
- Genetic and clinical characteristics of Filipino patients with Gaucher disease.Molecular genetics and metabolism reports · 2018Article
- Innate Immunity of the Lung: From Basic Mechanisms to Translational Medicine.Journal of innate immunity · 2018Review
- Treatment with rhDNase in patients with cystic fibrosis alters in-vitro CHIT-1 activity of isolated leucocytes.Clinical and experimental immunology · 2016Article
- Chitotriosidase Activity and Gene Polymorphism in Iranian Patients with Gaucher Disease and Sibling Carriers.Iranian journal of child neurology · 2016Article
- Immunomodulatory Effects of Chitotriosidase Enzyme.Enzyme research · 2016Review
- Chitinase from Thermomyces lanuginosus SSBP and its biotechnological applications.Extremophiles : life under extreme conditions · 2015Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
A common polymorphism in the chitotriosidase gene (CHIT1) exists in which a 24 bp duplication in exon 10 results in aberrant splicing and deletion of 87 nucleotides. In this study, the gene frequency was found to be 0.56 (n=2054) in subjects of Asian ancestry, 0.17 (n=984) in subjects of European ancestry and 0.07 (n=536) in subjects of African ancestry. Notably, the median enzyme activity in wild-type subjects (TT) was much higher in subjects of European ancestry (2.69 mU/ml, n=202 subjects), than subjects of African (2.57 mU/ml, n=230 subjects) (P<0.0001) and Asian ancestry (0.86 mU/ml, n=114 subjects) (P<0.0001). The question of why chitotriosidase deficiency exists at such a high frequency is a challenging one. We postulated that if there was a selective advantage for chitotriosidase deficiency then there would be polymorphisms that would be associated with reduced enzyme activity independent of the 24 bp duplication. We found that the G102S and the A442G polymorphisms found occurring in subjects of all ancestries were not significantly associated with a reduction of enzyme activity. In contrast, the G354R (P<0.0001) and the A442V (P=0.0013) polymorphisms occurring predominantly in subjects of African ancestry were significantly associated with reduced chitotriosidase activity. We also investigated the possibility that chitotriosidase deficiency was associated with tuberculosis or with atopy, including allergic rhinitis, contact dermatitis, food or drug allergies and asthma.
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