{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T20:02:42Z","timestamp":1758398562082,"version":"3.40.4"},"reference-count":40,"publisher":"S. Karger AG","issue":"5-6","license":[{"start":{"date-parts":[[2013,11,23]],"date-time":"2013-11-23T00:00:00Z","timestamp":1385164800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2013,11,23]],"date-time":"2013-11-23T00:00:00Z","timestamp":1385164800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dement Geriatr Cogn Disord"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>One of the most prevalent forms of dementia is Alzheimer's disease (AD). Complex inheritance and multifactorial patterns of late-onset AD (LOAD) along with its heterogeneity are due to the presence of different AD-predisposing genes with different influence on disease development among various populations. A key event in the pathogenesis of AD is the deposition of \u03b2-amyloid peptide, which is derived from the amyloid precursor protein by \u03b2- and &amp;#947;-secretases. Cathepsin D (CTSD) is an acid protease with \u03b2- and &amp;#947;-secretase-like features in vitro. An exonic C&amp;#x2192;T polymorphism at position 224 of the CTSD gene (rs: 17571) has been shown to be associated with the enzyme function of CTSD and with AD. Two studies in the German population reported a strong association of this polymorphism with an increased risk of developing AD, while other studies did not confirm this observation. We tested for this association in a case-control study in 100 Iranian sporadic LOAD patients based on diagnostic criteria of DSM-IV-TR and NINCDS-ADRDA and in 100 normal controls without any personal and family history of AD or other related dementias. Polymerase chain reaction-restriction fragment length polymorphism was set up to detect this polymorphism. Our study demonstrated that T-carrying genotype frequency in AD patients is significantly higher than in controls and there was a 2.5-fold increased risk for developing AD in the T-carrying genotype compared to C\/C genotype (odds ratio = 2.5, p = 0.010). The odds ratio for subjects with the apolipoprotein E \u03b54 (APOE \u03b54) allele was 2.91 (p = 0.003) and carriers of the CTSD T and APOE \u03b54 alleles had a 6.25-fold increased risk of the disease (p = 0.0). Our results indicate that CTSD genotype is associated with the disease and a combination of the above risk factors significantly alters the risk for developing AD.<\/jats:p>","DOI":"10.1159\/000347128","type":"journal-article","created":{"date-parts":[[2013,11,25]],"date-time":"2013-11-25T08:00:39Z","timestamp":1385366439000},"page":"257-264","source":"Crossref","is-referenced-by-count":12,"title":["Association Study of Cathepsin D Gene Polymorphism in Iranian Patients with Sporadic Late-Onset Alzheimer's Disease"],"prefix":"10.1159","volume":"37","author":[{"given":"Azadeh","family":"Sayad","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehrdad","family":"Noruzinia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahdi","family":"Zamani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad 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