title: Xylosyltransferase I variants and their impact on abdominal aortic aneurysms.
abstract: BACKGROUND
  The formation of abdominal aortic aneurysm (AAA) is caused by a destructive remodeling of the extracellular matrix in the vascular wall. Proteoglycan content and biosynthesis have been shown to be altered in AAA. Xylosyltransferase I (XT-I) is the initial and rate-limiting enzyme in the biosynthesis of the proteoglycan-linked glycosaminoglycan chains. A familial predisposition to AAA is well recognized. Thus, variations in the XT-I coding gene XYLT1 might be risk factors for AAA formation.
  
  
  METHODS
  We performed genotyping of two genetic variations in the XYLT1 gene which, have been already linked to proteoglycan-associated diseases, in 129 AAA patients and 129 age- and sex-matched healthy controls.
  
  
  RESULTS
  The T-allele of the polymorphism c.343G>T (p.A115S) was found to be significantly more frequent in AAA patients compared to the healthy control group, demonstrating that carriers of the T-allele have a 5-fold increased risk of developing AAA (odds ratio 4.87, 95%-CI 1.38-17.19; p=0.011).
  
  
  CONCLUSIONS
  Our results show that XT-I polymorphisms potentially confer to the genetic susceptibility of AAA.
authors.affiliation: Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen, Universitätsklinik der Ruhr-Universität Bochum, Georgstrasse 11, Bad Oeynhausen, Germany. cgoetting@hdz-nrw.de
authors.forename: Christian
authors.initials: C
authors.lastname: Götting
authors.forename: Christian
authors.initials: C
authors.lastname: Prante
authors.forename: Martin
authors.initials: M
authors.lastname: Schillinger
authors.forename: Markus
authors.initials: M
authors.lastname: Exner
authors.forename: Hans
authors.initials: H
authors.lastname: Domanovits
authors.forename: Marianne
authors.initials: M
authors.lastname: Raith
authors.forename: Joachim
authors.initials: J
authors.lastname: Kuhn
authors.forename: Knut
authors.initials: K
authors.lastname: Kleesiek
mesh_terms: D000368:Aged; D000483:Alleles; D017544:Aortic Aneurysm, Abdominal / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010430:Pentosyltransferases / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic; D000097608:UDP Xylose-Protein Xylosyltransferase
chemical_list: D010430:Pentosyltransferases; D000097608:UDP Xylose-Protein Xylosyltransferase