No association between a polymorphism in the presenilin 1 gene and dementia with Lewy bodies
No association between a polymorphism in the presenilin 1 gene and dementia with Lewy bodies
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早老素 1 基因多态性与路易体痴呆之间没有关联
DOI：
10.1097/00001756-199711100-00042
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发表时间：
1997
期刊：
影响因子：
1.7
通讯作者：
C. Morris
中科院分区：
文献类型：
--
作者：
Andrew B. Singleton;H. Lamb;A. Leake;I. McKeith;P. Ince;R. Perry;C. Morris
将 14 号染色体上的早老蛋白-1 (PS-1) 基因与阿尔茨海默病 (AD) 联系起来的错义突变的发现引发了对该基因座的彻底研究。 PS-1 基因包含产生两个等位基因的多态性。最常见的等位基因，即等位基因 1，与迟发性 AD 相关。鉴于 AD 和路易体痴呆之间的临床和病理重叠，我们对 46 例病理确诊的路易体痴呆病例进行 PS-1 多态性基因分型，并将等位基因频率与 87 例年龄匹配的对照病例和 103 例年龄匹配的 AD 病例进行比较。无论是在整个组中，还是在根据载脂蛋白 E 基因 ε4 等位基因剂量分层的组中，均未发现路易体痴呆与 PS-1 等位基因 1 之间存在关联。我们认为，要么早老素多态性对路易体痴呆没有影响，要么任何联系被另一个更有影响力的基因座排除。
THE discovery of mis-sense mutations linking the presenilin-1 (PS-1) gene on chromosome 14 to Alzheimer's disease (AD) has lead to a thorough investigation of this locus. The PS-1 gene contains a polymorphism creating two alleles. The most common allele, allele 1, has been linked with late-onset AD. Given the clinical and pathological overlaps between AD and dementia with Lewy bodies we genotyped 46 pathologically confirmed cases of dementia with Lewy bodies for the PS-1 polymorphism and compared the allelic frequencies with 87 agematched control cases and 103 age-matched AD cases. No association between dementia with Lewy bodies and PS-1 allele 1 was found either in the group as a whole, or in the group stratified according to dosage of the ε4 allele of the apolipoprotein E gene. We suggest that either the presenilin polymorphism has no effect on dementia with Lewy bodies or that any linkage is precluded by another, more influential, locus.