ArticleJournal of human genetics2007
Human CHIT1 gene distribution: new data from Mediterranean and European populations.
Article in Journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- CHIT1 at diagnosis predicts faster disability progression and reflects early microglial activation in multiple sclerosis.Nature communications · 2024Article
- Monocyte-Derived Macrophages Contribute to Chitinase Dysregulation in Amyotrophic Lateral Sclerosis: A Pilot Study.Frontiers in neurology · 2021Article
- CHIT1 at Diagnosis Reflects Long-Term Multiple Sclerosis Disease Activity.Annals of neurology · 2020Article
- Innate Immunity of the Lung: From Basic Mechanisms to Translational Medicine.Journal of innate immunity · 2018Review
- Dup-24 bp in the CHIT1 Gene in Six Mexican Amerindian Populations.JIMD reports · 2015Article
- High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasites.Carbohydrate polymers · 2014Article
- Chitotriosidase deficiency: a mutation update in an african population.JIMD reports · 2013Article
- Cerebrospinal fluid microglial markers in Alzheimer's disease: elevated chitotriosidase activity but lack of diagnostic utility.Neuromolecular medicine · 2011Article
- Human chitotriosidase polymorphisms G354R and A442V associated with reduced enzyme activity.Blood cells, molecules & diseasesArticle
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A 24 bp duplication in the CHIT1 gene (H allele) is associated with a deficiency in the activity of chitotriosidase, an enzyme with the capability to hydrolyse chitin. A recent study in European and two sub-Saharan populations suggested a relationship between the presence of the mutation, improved environmental conditions, and the disappearance of parasitic diseases, including Plasmodium falciparum malaria. This result was not supported by the high frequency of the 24 bp duplication in a sample from Taiwan, an area with high malaria endemicity until 40 years ago. In this study, we analysed the frequency variability of the H allele in Mediterranean populations and its internal variability in Sardinia (Italy) with respect to malaria, which had been endemic on the island until its eradication during 1946-1950. The pattern of H frequency distributions is not consistent with the hypothesis of selective pressures acting on CHIT1 gene. The Moran's index coefficient and correlogram seem to indicate, indeed, that allele distribution was determined by random factors. The pattern of frequency distribution suggests a possible Asiatic origin of the H allele, but it could be possible also that the mutant allele had diffused out of Africa, and was subsequently lost from African populations.
Indexed as
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.