Linked Life Data

14647197

Source:http://linkedlifedata.com/resource/pubmed/id/14647197

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
2003-12-3
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
1466-4879
pubmed:author
pubmed:issnType
Print
pubmed:volume
4
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
570-4
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
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.
pubmed:affiliation
Department of Biomedical Sciences, University of Catania, Italy.
pubmed:publicationType
Journal Article, Comparative Study