title: Genetic polymorphisms of chitotriosidase in Caucasian children with bronchial asthma.
abstract: In humans, two types of chitinases have been identified: chitotriosidase I (CHIT1) and acid mammalian chitinase (AMCase). They are enzymes that cleave chitin, a polysaccharide contained in many different human parasites. So far, only little is known about their function in human and especially in human diseases. Recently we have described association of polymorphisms of AMCase with bronchial asthma in a pediatric population. In this study we were interested in whether CHIT1 is also involved in the genetics of asthma. The amino acid variants Gly102Ser and Ala442Gly, as well as a 24 bp duplication within CHIT1, were typed by means of restriction fragment length polymorphisms on 322 children with asthma and 270 randomly chosen adult controls. Statistical analyses made use of the Armitage's trend test; haplotypes were calculated by FAMHAP and FASTEHPLUS. The amino acid variants showed no association with bronchial asthma. The 24 bp duplication, previously shown to completely demolish CHIT1 activity, was also evenly distributed between asthmatics and controls. Finally, the haplotype showed no association with the disease. We conclude from our results that CHIT1 does not play a major role in the development of bronchial asthma in Caucasian children. The results might also imply that the two human chitinases that have been identified so far have quite distinct functions in human diseases even though they have the same substrate.
authors.affiliation: Centre for Pediatrics and Adolescent Medicine, University of Freiburg, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Bierbaum
authors.forename: A
authors.initials: A
authors.lastname: Superti-Furga
authors.forename: A
authors.initials: A
authors.lastname: Heinzmann
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution / Q000276:immunology; D001249:Asthma / Q000201:enzymology / Q000208:ethnology / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D020022:Genetic Predisposition to Disease; D006596:Hexosaminidases / Q000235:genetics* / Q000276:immunology; D006801:Humans; D008297:Male; D016254:Mutagenesis, Insertional / Q000235:genetics / Q000276:immunology; D012150:Polymorphism, Restriction Fragment Length; D044465:White People
chemical_list: D006596:Hexosaminidases; C086400:chitotriosidase