24 bp duplication of CHIT1 gene is not correlated with coronary artery disease in Corsica Island (France)

• Published in: Experimental and molecular pathology Vol. 83; no. 3; pp. 490 - 492
• Main Authors: Piras, I., Falchi, A., Melis, A., Ghiani, M.E., Calò, C.M., Varesi, L., Vona, G.
• Format: Journal Article
• Language: English
• Published: Amsterdam Elsevier Inc 01-12-2007; Elsevier
• Subjects: Adult; Biological and medical sciences; Cardiology. Vascular system; CHIT1; Coronary Artery Disease; Coronary Artery Disease - genetics; Coronary heart disease; Corsican population; Female; France; Gene Duplication; Genetic Predisposition to Disease; Genetics; Genotype; Heart; Hexosaminidases; Hexosaminidases - blood; Hexosaminidases - genetics; Humans; Investigative techniques, diagnostic techniques (general aspects); Life Sciences; Male; Medical sciences; Middle Aged; Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques; Polymorphism, Genetic; Populations and Evolution; Statistics as Topic; France; Corsica; Europe; CHIT1; Coronary artery disease; Corsican population; Human; Anatomic pathology; Cardiovascular disease; Population; Gene duplication; Coronary heart disease
• ISSN: 0014-4800; 1096-0945
• DOI: 10.1016/j.yexmp.2007.08.001

In this study we analyzed allele and genotype distributions of 24 bp duplication of the
CHIT1 gene in a sample of patients (
N
=
300) with coronary artery disease (CAD) and in a control group (
N
=
300) from central Corsica (France), with the aim to investigate the possible association between
CHIT1 genotypes and CAD in Corsican population. Serum chitotriosidase activity is increased in individuals experiencing an ischemic stroke of atherothrombotic etiology and in subjects with ischemic heart disease.
Our results suggest that 24 bp duplication of
CHIT1 gene is not correlated with CAD in Corsican population, according to a previous study carried out on a Spanish sample. Gene prevalence and perhaps gene-disease associations vary according to ethnicity. Further studies, based on different ethnic groups, could be suitable to determine the implication of this polymorphism with respect to CAD.