title: An association study of a polymorphism in the heparan sulfate proteoglycan gene (perlecan, HSPG2) and Alzheimer's disease.
abstract: Accumulating evidence indicates that the heparan-sulfate-proteoglycan (perlecan, HSPG2), as well as other specific proteoglycans, are involved in amyloidogenesis and tau aggregation in Alzheimer's disease (AD). Moreover, the HSPG2 is located on chromosome 1p36, a region of linkage to late-onset AD (LOAD). These two criteria, pathological and positional, make the HSPG2 an interesting candidate for an association with AD. We performed a case-control association study between the common intron 6 BamHI polymorphism at a region of putative heparan-sulfate (HS) attachment sites in the HSPG2 gene and sporadic AD in Jews. No association was detected with AD, neither as a risk factor nor as a modifier gene affecting the age at disease onset and disease progression. In addition, no interactive effect was found with the known risk factor for AD, the apolipoprotein E (APOE) epsilon4. These findings show no evidence for association between HSPG2 intron 6 BamHI polymorphism and AD in our population.
authors.affiliation: Department of Neurology, The Agnes Ginges Center for Human Neurogenetics, Hadassah University Hospital, Jerusalem 91120, Israel. rosenman@hadassah.org.il
authors.forename: Hanna
authors.initials: H
authors.lastname: Rosenmann
authors.forename: Zeev
authors.initials: Z
authors.lastname: Meiner
authors.forename: Esther
authors.initials: E
authors.lastname: Kahana
authors.forename: Zoja
authors.initials: Z
authors.lastname: Aladjem
authors.forename: Gideon
authors.initials: G
authors.lastname: Friedman
authors.forename: Arie
authors.initials: A
authors.lastname: Ben-Yehuda
authors.forename: Tal
authors.initials: T
authors.lastname: Grenader
authors.forename: Eli
authors.initials: E
authors.lastname: Wertman
authors.forename: Oded
authors.initials: O
authors.lastname: Abramsky
mesh_terms: D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000453:epidemiology / Q000235:genetics*; D053327:Apolipoprotein E4; D001057:Apolipoproteins E / Q000235:genetics; D016022:Case-Control Studies; D015245:Deoxyribonuclease BamHI; D018450:Disease Progression; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D019812:Heparan Sulfate Proteoglycans / Q000235:genetics*; D006801:Humans; D007438:Introns; D007585:Jews / Q000235:genetics; D008875:Middle Aged; D011110:Polymorphism, Genetic
chemical_list: D053327:Apolipoprotein E4; D001057:Apolipoproteins E; D019812:Heparan Sulfate Proteoglycans; D015245:Deoxyribonuclease BamHI