载脂蛋白E e2等位基因对唐氏综合征痴呆的保护作用。
A protective effect of apolipoprotein E e2 allele on dementia in Down's syndrome.
作者信息
Tyrrell J, Cosgrave M, Hawi Z, McPherson J, O'Brien C, McCalvert J, McLaughlin M, Lawlor B, Gill M
机构信息
Department of Psychiatry, Trinity College, Dublin, Ireland.
出版信息
Biol Psychiatry. 1998 Mar 15;43(6):397-400. doi: 10.1016/s0006-3223(97)00481-2.
BACKGROUND
The apolipoprotein E (ApoE) e4 allele has been associated with an increased risk for Alzheimer's disease, whereas the e2 allele has been shown to be protective. Similar effects in Down's syndrome (DS) have been postulated but not yet demonstrated.
METHODS
We obtained DNA from 221 DS individuals and from 162 population controls, and 77 DS children. Older DS subjects were evaluated for dementia and compared to age-matched DS controls.
RESULTS
The DS sample with dementia (n = 31) had a significantly lower frequency of the ApoE e2 allele compared to age-matched nondemented DS controls (0% vs. 8.3%, p = .0136). The older DS population had a significantly lower frequency of ApoE e4 compared to population controls (11.7% vs. 20.6%, chi-square 8.9, p = .0028).
CONCLUSIONS
The lower frequency of the e2 allele in demented DS subjects compared to age-matched nondemented DS controls suggests a protective effect for ApoE e2 in the development of dementia in DS. The lower frequency of ApoE e4 in our older DS sample compared to population controls points to a detrimental effect of the e4 allele on longevity.
背景
载脂蛋白E（ApoE）ε4等位基因与阿尔茨海默病风险增加相关，而ε2等位基因具有保护作用。唐氏综合征（DS）中也推测有类似作用，但尚未得到证实。
方法
我们从221名DS个体、162名人群对照以及77名DS儿童中获取了DNA。对年龄较大的DS受试者进行痴呆评估，并与年龄匹配的DS对照进行比较。
结果
与年龄匹配的非痴呆DS对照相比，患有痴呆的DS样本（n = 31）中ApoE ε2等位基因频率显著更低（0%对8.3%，p = 0.0136）。与人群对照相比，年龄较大的DS人群中ApoE ε4频率显著更低（11.7%对20.6%，卡方值8.9，p = 0.0028）。
结论
与年龄匹配的非痴呆DS对照相比，痴呆DS受试者中ε2等位基因频率更低，提示ApoE ε2在DS痴呆发生过程中具有保护作用。与人群对照相比，我们年龄较大的DS样本中ApoE ε4频率更低，表明ε4等位基因对寿命有不利影响。
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