Chitotriosidase genotype and serum activity in subjects with combined hyperlipidemia: Effect of the lipid-lowering agents, atorvastatin and bezafibrate

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

“…In our previous report, [9][10][11][12][13][14][15][16] a correlation between this parameter of macrophage activation, the level of serum ferritin and platelet count in children with acute malaria was found. This result suggested that Chit could have a role in the immune response and in the outcome of malaria infection.…”

“…12 Additional studies performed in different populations confirmed the presence of the 24-bp duplication in individuals completely deficient in enzymatically active Chit. 12,13 Based on the variable incidence of Chit activity deficiency in different populations, 12,13 we performed a comparative study of the Chit gene polymorphism in different ethnic groups of the Mediterranean area (Sicilian and Sardinian populations) and African sub-Saharan area (Benin and Burkina Faso), which differ in terms of a distinct environmental feature and incidence of parasitic diseases.…”

Biochemical and Molecular Chitotriosidase Profiles in Patients with Gaucher Disease Type 1 in Minas Gerais, Brazil: New Mutation in CHIT1 Gene

“…Results are presented as median and range (minimum and maximum). Four GD type 1 patients and three healthy controls showed no detectable ChT activity and therefore were excluded from further statistical analysis (Canudas et al 2001). The nonparametric MannWhitney test was used in order to evaluate differences in ChT activity between GD type 1 patients and controls, and also among patients and control individuals grouped by genotype.…”

“…The slit width was 5 nm, both EM and EX. The coefficient of variation (CV) between duplicates was 5%, which makes the test highly reproducible (Canudas et al 2001;Comabella et al 2009;Vellodi et al 2005). ChT activity was expressed in nanomols of hydrolyzed substrate per hour per mL (nmol/h/mL).…”

Human chitotriosidase polymorphism is associated with human longevity in Mediterranean nonagenarians and centenarians

“…A mild enzymatic activity has been detected in subjects heterozygous for the duplication. [16][17] Chit activity seems to be related to the severity of atherosclerotic lesions, thereby suggesting a possible role for Chit as a marker of atherosclerotic extension. [18][19][20] In addition, it was reported that patients with atherothrombotic stroke (ATS) and ischemic disease (IHD) had significantly higher Chit activities than the control group.…”