Presenilin-1 intron 8 polymorphism is not associated with autopsy-confirmed late-onset Alzheimer's disease.
Mutations in the presenilin-1 (PS-1) gene may account for the majority of familial early-onset Alzheimer's disease (EOAD) cases. However, there is controversy as to whether the bi-allelic intron 8 PS-1 polymorphism plays a role in late-onset AD (LOAD). As previous association studies with this...
| Main Authors: | , , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
1997
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| _version_ | 1826265091893362688 |
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| author | Tysoe, C Whittaker, J Cairns, N Atkinson, P Harrington, C Xuereb, J Wilcock, G Rubinsztein, D |
| author_facet | Tysoe, C Whittaker, J Cairns, N Atkinson, P Harrington, C Xuereb, J Wilcock, G Rubinsztein, D |
| author_sort | Tysoe, C |
| collection | OXFORD |
| description | Mutations in the presenilin-1 (PS-1) gene may account for the majority of familial early-onset Alzheimer's disease (EOAD) cases. However, there is controversy as to whether the bi-allelic intron 8 PS-1 polymorphism plays a role in late-onset AD (LOAD). As previous association studies with this polymorphism have all investigated clinically diagnosed LOAD cases, we have analysed the frequency of the PS-1 intronic polymorphism in a series of autopsy-confirmed early- (n = 54) and late-onset (n = 199) cases and a large control population of non-demented, aged individuals (n = 215). Our sample size should have had the power to reveal effects of the size previously reported for the PS-1 polymorphism, but we detected no significant increase in the 1/1 risk genotype distribution in EOAD or LOAD cases. Thus, we have been unable to find an association between the PS-1 intronic polymorphism and early- or late-onset AD within this autopsy-confirmed population. |
| first_indexed | 2024-03-06T20:18:15Z |
| format | Journal article |
| id | oxford-uuid:2ce54211-5125-4e7d-8e30-34cb0722fa0f |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T20:18:15Z |
| publishDate | 1997 |
| record_format | dspace |
| spelling | oxford-uuid:2ce54211-5125-4e7d-8e30-34cb0722fa0f2022-03-26T12:39:43ZPresenilin-1 intron 8 polymorphism is not associated with autopsy-confirmed late-onset Alzheimer's disease.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:2ce54211-5125-4e7d-8e30-34cb0722fa0fEnglishSymplectic Elements at Oxford1997Tysoe, CWhittaker, JCairns, NAtkinson, PHarrington, CXuereb, JWilcock, GRubinsztein, DMutations in the presenilin-1 (PS-1) gene may account for the majority of familial early-onset Alzheimer's disease (EOAD) cases. However, there is controversy as to whether the bi-allelic intron 8 PS-1 polymorphism plays a role in late-onset AD (LOAD). As previous association studies with this polymorphism have all investigated clinically diagnosed LOAD cases, we have analysed the frequency of the PS-1 intronic polymorphism in a series of autopsy-confirmed early- (n = 54) and late-onset (n = 199) cases and a large control population of non-demented, aged individuals (n = 215). Our sample size should have had the power to reveal effects of the size previously reported for the PS-1 polymorphism, but we detected no significant increase in the 1/1 risk genotype distribution in EOAD or LOAD cases. Thus, we have been unable to find an association between the PS-1 intronic polymorphism and early- or late-onset AD within this autopsy-confirmed population. |
| spellingShingle | Tysoe, C Whittaker, J Cairns, N Atkinson, P Harrington, C Xuereb, J Wilcock, G Rubinsztein, D Presenilin-1 intron 8 polymorphism is not associated with autopsy-confirmed late-onset Alzheimer's disease. |
| title | Presenilin-1 intron 8 polymorphism is not associated with autopsy-confirmed late-onset Alzheimer's disease. |
| title_full | Presenilin-1 intron 8 polymorphism is not associated with autopsy-confirmed late-onset Alzheimer's disease. |
| title_fullStr | Presenilin-1 intron 8 polymorphism is not associated with autopsy-confirmed late-onset Alzheimer's disease. |
| title_full_unstemmed | Presenilin-1 intron 8 polymorphism is not associated with autopsy-confirmed late-onset Alzheimer's disease. |
| title_short | Presenilin-1 intron 8 polymorphism is not associated with autopsy-confirmed late-onset Alzheimer's disease. |
| title_sort | presenilin 1 intron 8 polymorphism is not associated with autopsy confirmed late onset alzheimer s disease |
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