title: CHIT1 genetic defects in the Portuguese population.
abstract: Chitotriosidase is an enzyme secreted by activated macrophages and a useful biomarker in several lysosomal and nonlysosomal diseases. However, chitotriosidase gene (CHIT1) mutations may lead to inaccuracy in the significance of this biomarker. Reports on the molecular spectrum of genetic variation in chitotriosidase are rare, and this is one of the few that focus on a specific population group. In this work we assessed the variation of CHIT1 mutations in ten normal controls and detected six missense alterations. G102S, a polymorphism with known altered catalytic properties, was the most frequent being detected in 4/10 individuals. Using allelic discrimination we tested 503 individuals, randomly sampled from the Portuguese population. Variant G102S was detected in 49.5% of the individuals and presented an allele frequency of 0.29. The results of this study showed that variability in CHIT1 gene is considerable and that G102S polymorphism presents a high frequency in the Portuguese.
authors.affiliation: Departamento de Genética Humana, Unidade I&D-P, CGMJM, Instituto Nacional de Saúde Ricardo Jorge (INSA, IP), Pr. Pedro Nunes 88, 4099-028 Porto, Portugal. ana.duarte@insa.min-saude.pt
authors.forename: Ana Joana
authors.initials: AJ
authors.lastname: Duarte
authors.forename: Diogo
authors.initials: D
authors.lastname: Ribeiro
authors.forename: Olga
authors.initials: O
authors.lastname: Amaral
mesh_terms: D000483:Alleles; D059788:Dried Blood Spot Testing; D005260:Female; D005787:Gene Frequency; D060005:Genotyping Techniques; D006596:Hexosaminidases / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008264:Macrophages / Q000378:metabolism*; D008297:Male; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D011174:Portugal
chemical_list: D006596:Hexosaminidases; C086400:chitotriosidase