Cathepsin D polymorphism not associated with Alzheimer's disease in Japanese

Matsui, Toshifumi; Morikawa, Yu Ichi; Tojo, Masayoshi; Okamura, Nobuyuki; Maruyama, Masahiro; Hirai, Hisao; Chiba, Hiroshi; Matsushita, Satoru; Higuchi, Susumu; Arai, Hiroyuki; Sasaki, Hidetada

doi:10.1002/ana.110

Cited by 21 publications

(11 citation statements)

References 5 publications

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“…Interestingly, the effects of this allele on the risk of AD were additive with the APOE Â4 allele, because carriers of the APOE Â4 allele had a 3.9-fold increased risk compared to noncarriers, but subjects with both the APOE Â4 allele and the catD T allele had a 19-fold increased risk of AD versus subjects carrying neither of these two alleles. However, other studies have not confirmed these results [70][71][72]. One study in Caribbean Hispanics [73] suggested that the T-carrying genotype would tend to be more associated with the control group (27%) rather than the AD group (17%), although the difference did not reach significance.…”

Section: Cathepsin Dmentioning

confidence: 93%

Candidate Gene Association Studies in Sporadic Alzheimer’s Disease

Combarros

Alvarez-Arcaya²,

Sánchez-Guerra³

et al. 2002

Dement Geriatr Cogn Disord

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The genetics of Alzheimer’s disease (AD) is complex. Three genes (amyloid precursor protein, presenilin 1 and presenilin 2) have been described in the relatively rare, early-onset, autosomal dominant familial form of AD. In the common, non-familial (sporadic) late-onset AD, the major known genetic risk factor is the Ε4 allele of the apolipoprotein E (APOE) gene. However, at least half of the people who develop AD do not carry this allele, and not all people who do carry this allele develop AD even if they live to an old age. Therefore, approximately 30 other candidate genes involving a protein in a critical pathway in the pathogenesis of disease (principally interaction with amyloid-β, oxidative stress and inflammation/apoptosis) have been considered as risk factors for sporadic AD. Then these genes have been sequenced in search of genetic variability or polymorphisms, and each putative polymorphism has been reported to alter the risk of AD either directly or by an interaction with the APOE Ε4 allele. However, positive-association studies with these candidate genes have not been consistently confirmed.

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Section: Cathepsin Dmentioning

confidence: 93%

Candidate Gene Association Studies in Sporadic Alzheimer’s Disease

Combarros

Alvarez-Arcaya²,

Sánchez-Guerra³

et al. 2002

Dement Geriatr Cogn Disord

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“…All AD patients were diagnosed by NINCDS-ADRDA criteria, DSM-IV criteria, or autopsy confirmation in all eligible studies. The genotype frequencies of the control groups in two case–control studies deviated from the HWE [22,29]. Ten of the eligible studies evaluated the interaction between the CTSD and the APOEϵ4 allele [1,14,15,18-21,24,28,29,34].…”

Section: Resultsmentioning

confidence: 99%

Lack of association between cathepsin D C224T polymorphism and Alzheimer’s disease risk: an update meta-analysis

Peng

Sui

et al. 2014

BMC Neurol

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BackgroundCathepsin D C224T polymorphism has been reported to associate with AD susceptibility. But the results were inconsistent. This study aimed to assess the relationship between C224T polymorphism and AD risk.MethodsThe relevant studies were identified by searching PubMed, Embase, Web of Science, Google Scholar and Wan fang electronic databases updated on July 2013. The relationship between Cathepsin D C224T polymorphism and AD risk was evaluated by ORs and 95% CIs.ResultsA total of 25 case-control studies including 5,602 cases and 11,049 controls were included in the meta-analysis. There was no association between C224T polymorphism and AD risk with all the studies were pooled in the meta-analysis (CT vs. CC: OR = 1.125, 95% CI = 0.974-1.299, P = 0.109; CT + TT vs. CC: OR = 1.136, 95% CI = 0.978-1.320, P = 0.094). Furthermore, when stratified by ethnicity, age of onset and APOEϵ4 status, significant association did not found in all subgroups.ConclusionThe present meta-analysis suggested that the Cathepsin D C224T polymorphism was not associated with AD susceptibility.

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“…Although there is evidence supporting a biological role of cathepsin D in the neuropathogenesis of AD [22][23][24], Matsui et al [29] failed to detect an association with the polymorphism of CTSD and AD in different ethnic groups studied. In the present study, conducted on an Italian population, the polymorphism Ala224Val of CTSD did not represent a risk factor for late-onset AD, in agreement with another Italian study [34].…”

Section: Discussionmentioning

confidence: 95%

“…An increased representation of the CTSD T* allele has been associated with a higher risk of AD [19,20] while other studies found a small increase in the risk [25] or did not confirm this finding [26][27][28][29].…”

Section: Introductionmentioning

confidence: 88%

Cathepsin D Polymorphism in Italian Elderly Subjects with Sporadic Late-Onset Alzheimer’s Disease

Ingegni¹,

Nocentini

Mariani³

et al. 2003

Dement Geriatr Cogn Disord

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Alzheimer’s disease (AD) is the most frequent cause of dementia in elderly people. Different pathological pathways have been involved in the development of late-onset AD. Among them, numerous genes have been proposed as pathogenetic factors acting independently or interactively. It has been suggested that the cathepsin D gene (CTSD) is associated with late-onset AD. We analyzed an exonic polymorphism of the CTSD gene [C→T (Ala→Val) transition at position 224] in 142 AD patients and 120 controls. Our data indicate no significant association between this polymorphism and the risk of AD. Likewise there was no association between CTSD polymorphism and the apolipoprotein E genotype in the risk of developing AD.

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Cathepsin D polymorphism not associated with Alzheimer's disease in Japanese

Cited by 21 publications

References 5 publications

Candidate Gene Association Studies in Sporadic Alzheimer’s Disease

Candidate Gene Association Studies in Sporadic Alzheimer’s Disease

Lack of association between cathepsin D C224T polymorphism and Alzheimer’s disease risk: an update meta-analysis

Cathepsin D Polymorphism in Italian Elderly Subjects with Sporadic Late-Onset Alzheimer’s Disease

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