An association study of a polymorphism in the heparan sulfate proteoglycan gene (perlecan, HSPG2) and Alzheimer's disease.
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.
Rosenmann
Hanna
H
Department of Neurology, The Agnes Ginges Center for Human Neurogenetics, Hadassah University Hospital, Jerusalem 91120, Israel. rosenman@hadassah.org.il
Meiner
Zeev
Z
Kahana
Esther
E
Aladjem
Zoja
Z
Friedman
Gideon
G
Ben-Yehuda
Arie
A
Grenader
Tal
T
Wertman
Eli
E
Abramsky
Oded
O
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
D053327:Apolipoprotein E4; D001057:Apolipoproteins E; D019812:Heparan Sulfate Proteoglycans; D015245:Deoxyribonuclease BamHI