The distribution of apolipoprotein E alleles in Scottish perinatal deaths
The distribution of apolipoprotein E alleles in Scottish perinatal deaths
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DOI：
10.1136/jmg.2005.033936
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发表时间：
2006-05-01
影响因子：
4
通讯作者：
Bell, J
中科院分区：
文献类型：
--
作者：
Becher, JC;Keeling, JW;Bell, J
背景：载脂蛋白 E (ApoE) 多态性已在成年人群中得到充分研究，部分原因是 e4 等位基因是阿尔茨海默病的已知危险因素。人们对 ApoE 等位基因在新生儿中的分布知之甚少，也没有研究过它们与围产期脑损伤的关系。方法：对苏格兰围产期死亡队列 (n = 261) 进行 ApoE 基因分型，其中一些人患有产前脑损伤。将 ApoE 等位基因在苏格兰围产期死亡中的分布与健康活产婴儿和成人中的分布进行比较。结果：ApoE e2 在 251 例围产期死亡中的比例过高（健康新生儿中为 13% vs 8%，比值比 (OR) = 1.63，95% 置信区间 (CI) 1.13 至 2.36，成人中为 13% vs 8%，OR= 1.67，95% CI 1.16 至 2.41），无论是活产还是死产围产期死亡。相比之下，与死产（13%，OR = 1.59，95% CI 1.11至2.26）和成人（15%，OR = 1.35，95% CI 1.04至1.76）相比，健康活产婴儿（19%）的ApoE e4患病率有所升高。然而，没有发现 ApoE 基因型与围产期脑损伤的存在或不存在之间存在相关性。结论：这项研究表明，与成人相比，生命早期 ApoE 等位基因分布发生了变化。与围产期死亡相关的 ApoE e2 患病率升高表明该等位基因对妊娠结局有害，而 ApoE e4 的危害可能较小。然而，ApoE 基因型似乎并不影响围产期缺氧/缺血性脑损伤的脆弱性，这与成人大脑和动物模型的研究结果一致。
Background: The apolipoprotein E ( ApoE) polymorphism has been well studied in the adult human population, in part because the e4 allele is a known risk factor for Alzheimer's disease. Little is known of the distribution of ApoE alleles in newborns, and their association with perinatal brain damage has not been investigated.Methods: ApoE genotyping was undertaken in a Scottish cohort of perinatal deaths (n = 261), some of whom had prenatal brain damage. The distribution of ApoE alleles in perinatal deaths was compared with that in healthy liveborn infants and in adults in Scotland.Results: ApoE e2 was over-represented in 251 perinatal deaths (13% v 8% in healthy newborns, odds ratio (OR) = 1.63, 95% confidence interval (CI) 1.13 to 2.36 and 13% v 8% in adults, OR= 1.67, 95% CI 1.16 to 2.41), both in liveborn and stillborn perinatal deaths. In contrast, the prevalence of ApoE e4 was raised in healthy liveborn infants (19%) compared with stillbirths (13%, OR= 1.59, 95% CI 1.11 to 2.26) and with adults (15%, OR= 1.35, 95% CI 1.04 to 1.76). However, no correlation was found between ApoE genotype and the presence or absence of perinatal brain damage.Conclusions: This study shows a shift in ApoE allelic distribution in early life compared with adults. The raised prevalence of ApoE e2 associated with perinatal death suggests that this allele is detrimental to pregnancy outcome, whereas ApoE e4 may be less so. However, ApoE genotype did not appear to influence the vulnerability for perinatal hypoxic/ischaemic brain damage, in agreement with findings in adult brains and in animal models.