title: Genetic polymorphism in the cathepsin G gene and the risk of Alzheimer's disease.
abstract: Alzheimer's disease (AD) is a complex disease with the possible involvement of several genes. The APOE*4 allele has been documented to be a major risk factor for sporadic late-onset AD, but it is neither necessary nor sufficient to cause the disease. Cathepsin G, a serine protease found commonly in the azurophillic granules of neutrophils, has been reported to possess some beta-secretase like properties, and thus may be involved in the processing of amyloid precursor protein (APP). Recently, an A-->G polymorphism has been reported in exon 4 of the cathepsin G gene, which changes the codon AAC ((125) Asp) to AGC ((125)Ser). In this study, we have investigated the association of this polymorphism with sporadic late-onset AD. We screened DNA samples from 464 late-onset AD cases and 310 age-matched controls. No significant association was seen between this polymorphism and AD. When the data were stratified by the APOE*4 carrier status, no significant difference was seen either. Our data show no effect of this cathepsin G polymorphism in AD. Characterization of additional polymorphisms in this gene may provide more conclusive answers.
authors.affiliation: Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA.
authors.forename: T J
authors.initials: TJ
authors.lastname: Bhojak
authors.forename: S T
authors.initials: ST
authors.lastname: DeKosky
authors.forename: M
authors.initials: M
authors.lastname: Ganguli
authors.forename: M I
authors.initials: MI
authors.lastname: Kamboh
mesh_terms: D000368:Aged; D000544:Alzheimer Disease / Q000453:epidemiology* / Q000235:genetics*; D056649:Cathepsin G; D002403:Cathepsins / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D012307:Risk Factors; D012697:Serine Endopeptidases
chemical_list: D002403:Cathepsins; D012697:Serine Endopeptidases; C534094:CTSG protein, human; D056649:Cathepsin G