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载脂蛋白E e4及其在婴儿猝死综合征或其他已知原因导致的幼儿早期死亡中的患病率。

Apolipoprotein E e4 and its prevalence in early childhood death due to sudden infant death syndrome or to recognised causes.

作者信息

Becher Julie-Clare, Keeling Jean W, Bell Jeanne, Wyatt Betty, McIntosh Neil

机构信息

Section of Child Life & Health, University of Edinburgh, Scotland, United Kingdom.

出版信息

Early Hum Dev. 2008 Aug;84(8):549-54. doi: 10.1016/j.earlhumdev.2008.01.002. Epub 2008 Feb 20.

Abstract

BACKGROUND

Specific genetic polymorphisms have been shown to be more common in unexplained infant death. The APOE genotype exhibits opposite effects at the extremes of age with protective effects of e4 on perinatal mortality but detrimental effects as age progresses.

OBJECTIVE

To determine whether the APOE e4 allele is associated with early childhood (1 week-2 years) unexplained death ('sudden infant death syndrome', SIDS) or with recognised causes (non-SIDS) and to compare these cohorts with published perinatal and adult data.

METHODS

DNA was extracted from spleen tissue of children dying in South East Scotland between 1990 and 2002. APOE alleles (e2, e3, e4) were determined using PCR. Comparisons of allele frequencies between groups were made.

RESULTS

There were 167 SIDS cases and 117 non-SIDS cases. Allele distributions of SIDS cases were similar to healthy newborns. Allele distributions of non-SIDS cases were more similar to adults than to healthy newborns. The percentage of children with at least one e4 allele was significantly lower in non-SIDS compared to SIDS (p = 0.016). Non-SIDS cases had a higher frequency of e3 compared to SIDS cases (p = 0.01) and to healthy newborns (0.005).

CONCLUSIONS

Children dying from identified causes have different APOE allele distributions from SIDS cases, but are similar to adults. Children dying from SIDS have an allele distribution comparable to healthy newborns. The prevalence of e4 in SIDS is not of an order to contribute significantly to the age-related decline in e4.

摘要

背景

特定的基因多态性在不明原因的婴儿死亡中更为常见。载脂蛋白E(APOE)基因型在年龄两端呈现相反的作用,e4对围产期死亡率有保护作用,但随着年龄增长则有不利影响。

目的

确定APOE e4等位基因是否与幼儿期(1周龄至2岁)不明原因死亡(“婴儿猝死综合征”,SIDS)或已知原因(非SIDS)相关,并将这些队列与已发表的围产期和成人数据进行比较。

方法

从1990年至2002年在苏格兰东南部死亡儿童的脾脏组织中提取DNA。使用聚合酶链反应(PCR)确定APOE等位基因(e2、e3、e4)。对各组之间的等位基因频率进行比较。

结果

有167例SIDS病例和117例非SIDS病例。SIDS病例的等位基因分布与健康新生儿相似。非SIDS病例的等位基因分布与成年人比与健康新生儿更相似。与SIDS相比,非SIDS中至少有一个e4等位基因的儿童百分比显著更低(p = 0.016)。与SIDS病例(p = 0.01)和健康新生儿(p = 0.005)相比,非SIDS病例中e3的频率更高。

结论

因已知原因死亡的儿童与SIDS病例的APOE等位基因分布不同,但与成年人相似。死于SIDS的儿童的等位基因分布与健康新生儿相当。SIDS中e4的患病率不足以对e4随年龄的下降产生显著影响。

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