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Chitotriosidase deficiency is not associated with human hookworm infection in a Papua New Guinean population

Human chitotriosidase (CHIT1) is a chitinolytic enzyme with suggested anti-fungal properties. Previous studies have suggested that chitotriosidase may also protect individuals against filarial nematode infections and malaria. A mutant allele, which renders chitotriosidase unstable and enzymatically...

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Autores principales: Hall, Andrew J., Quinnell, Rupert J., Raiko, Andrew, Lagog, Moses, Siba, Peter, Morroll, Shaun, Falcone, Franco H.
Formato: Texto
Lenguaje:English
Publicado: Elsevier Science 2007
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2080692/
https://www.ncbi.nlm.nih.gov/pubmed/17765019
http://dx.doi.org/10.1016/j.meegid.2007.07.010
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author Hall, Andrew J.
Quinnell, Rupert J.
Raiko, Andrew
Lagog, Moses
Siba, Peter
Morroll, Shaun
Falcone, Franco H.
author_facet Hall, Andrew J.
Quinnell, Rupert J.
Raiko, Andrew
Lagog, Moses
Siba, Peter
Morroll, Shaun
Falcone, Franco H.
author_sort Hall, Andrew J.
collection PubMed
description Human chitotriosidase (CHIT1) is a chitinolytic enzyme with suggested anti-fungal properties. Previous studies have suggested that chitotriosidase may also protect individuals against filarial nematode infections and malaria. A mutant allele, which renders chitotriosidase unstable and enzymatically inactive, is found at a frequency of >20% in Caucasians and other populations. This allele is found at much lower frequency in parts of West Africa where malarial and intestinal helminth infections are endemic. Here, we investigate whether there is a significant association between chitotriosidase genotype and the intensity of hookworm infection in 693 individuals from five villages in Papua New Guinea. Individuals were genotyped for chitotriosidase using a PCR-based assay. There was no association between CHIT1 genotype and the intensity of hookworm infection as determined by faecal egg counts. The frequency of the mutant allele was 0.251, very similar to that found in non-endemic countries. The extent of geographical variation in allele frequencies across worldwide populations was not high (F(st) = 0.11), and does not provide evidence for directional selection at this locus between different geographical areas. We conclude that the CHIT1 genotype does not play a crucial role in protection against hookworm infection. This does not correlate with a previous study that linked the mutant CHIT1 genotype to filariasis susceptibility. The possible reasons for this discrepancy are discussed.
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spelling pubmed-20806922007-12-19 Chitotriosidase deficiency is not associated with human hookworm infection in a Papua New Guinean population Hall, Andrew J. Quinnell, Rupert J. Raiko, Andrew Lagog, Moses Siba, Peter Morroll, Shaun Falcone, Franco H. Infect Genet Evol Short Communication Human chitotriosidase (CHIT1) is a chitinolytic enzyme with suggested anti-fungal properties. Previous studies have suggested that chitotriosidase may also protect individuals against filarial nematode infections and malaria. A mutant allele, which renders chitotriosidase unstable and enzymatically inactive, is found at a frequency of >20% in Caucasians and other populations. This allele is found at much lower frequency in parts of West Africa where malarial and intestinal helminth infections are endemic. Here, we investigate whether there is a significant association between chitotriosidase genotype and the intensity of hookworm infection in 693 individuals from five villages in Papua New Guinea. Individuals were genotyped for chitotriosidase using a PCR-based assay. There was no association between CHIT1 genotype and the intensity of hookworm infection as determined by faecal egg counts. The frequency of the mutant allele was 0.251, very similar to that found in non-endemic countries. The extent of geographical variation in allele frequencies across worldwide populations was not high (F(st) = 0.11), and does not provide evidence for directional selection at this locus between different geographical areas. We conclude that the CHIT1 genotype does not play a crucial role in protection against hookworm infection. This does not correlate with a previous study that linked the mutant CHIT1 genotype to filariasis susceptibility. The possible reasons for this discrepancy are discussed. Elsevier Science 2007-12 /pmc/articles/PMC2080692/ /pubmed/17765019 http://dx.doi.org/10.1016/j.meegid.2007.07.010 Text en © 2007 Elsevier B.V. https://creativecommons.org/licenses/by/3.0/ Open Access under CC BY 3.0 (https://creativecommons.org/licenses/by/3.0/) license
spellingShingle Short Communication
Hall, Andrew J.
Quinnell, Rupert J.
Raiko, Andrew
Lagog, Moses
Siba, Peter
Morroll, Shaun
Falcone, Franco H.
Chitotriosidase deficiency is not associated with human hookworm infection in a Papua New Guinean population
title Chitotriosidase deficiency is not associated with human hookworm infection in a Papua New Guinean population
title_full Chitotriosidase deficiency is not associated with human hookworm infection in a Papua New Guinean population
title_fullStr Chitotriosidase deficiency is not associated with human hookworm infection in a Papua New Guinean population
title_full_unstemmed Chitotriosidase deficiency is not associated with human hookworm infection in a Papua New Guinean population
title_short Chitotriosidase deficiency is not associated with human hookworm infection in a Papua New Guinean population
title_sort chitotriosidase deficiency is not associated with human hookworm infection in a papua new guinean population
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2080692/
https://www.ncbi.nlm.nih.gov/pubmed/17765019
http://dx.doi.org/10.1016/j.meegid.2007.07.010
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