書誌事項
- タイトル別名
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- Analysis of Causative Genes and Genetic Risk Factor in Alzheimer's Disease.
- アルツハイマービョウ ノ ゲンイン イデンシ ナラビニ イデンテキ キケン インシ ノ カイセキ
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説明
Recently, some Alzheimer-associated genes have been found: amyloid β protein precursor (APP), apolipoprotein E (apoE), presenilin 1 (PS-1), and presenilin 2 (PS-2). First, we failed to discover other susceptibility genes of familial Alzheimer's disease (FAD). However, we dislosed a novel mutation, Asp678Asn (D678N), in the APP gene in a pedigree of early-onset Japanese FAD. The alteration in the aggregation properties of mutant Aβ may be involved in the pathogenesis of FAD with D678N APP mutation.<br>Many reports have established that apoE genotype distribution for the ε4 allele is a susceptibility factor for the earlier onset and more rapid progression of Alzheier's disease (AD). However, the cause of sporadic AD (SAD) has not been elucidated fully. Other genetic factors may be associated with development of SAD. Second, we investigated the association between polymorphisms of the estrogen receptor (ER) α gene and SAD. The frequencies of P and X alleles in SAD were significantly higher than those in the control group (p<0.05). Polymorphism of the ERα gene may be a genetic risk factor for SAD.
収録刊行物
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- 日本老年医学会雑誌
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日本老年医学会雑誌 38 (6), 769-771, 2001
一般社団法人 日本老年医学会
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詳細情報 詳細情報について
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- CRID
- 1390001205020277504
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- NII論文ID
- 130003652762
- 10011305249
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- NII書誌ID
- AN00199010
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- NDL書誌ID
- 6001736
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- ISSN
- 03009173
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- PubMed
- 11774719
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- 本文言語コード
- ja
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- 資料種別
- journal article
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- データソース種別
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- JaLC
- NDLサーチ
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- PubMed
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- 抄録ライセンスフラグ
- 使用不可