Li Jun, Zhang Fuchang, Wang Yunliang, Wang Yan, Qin Wei, Xing Qinghe, Qian Xueqing, Guo Tingwei, Gao Xiaocai, He Lin, Gao Jianjun
Bio-X Institute, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, 1954 Huashan Road, Shanghai 200030, China ; Institute for Neuropsychiatric Science and Metabonomics, Changning Mental Health Center, Shanghai 200335, China.
Key Laboratory of Resource Biology and Biotechnology in Western China (Ministry of Education), College of Life Science, Institute of Population and Health, Northwest University, Xi'an 710069, China.
Biomed Res Int. 2014;2014:236702. doi: 10.1155/2014/236702. Epub 2014 Mar 25.
Several common single-nucleotide polymorphisms (SNPs) at apolipoprotein E (ApoE) have been linked with late onset sporadic Alzheimer's disease and declining normative cognitive ability in elder people, but we are unclear about their relationship with cognition in children.
We studied -491A/T, -427T/C, and -219G/T promoter polymorphisms and ε2/ε3/ε4 at ApoE among children with mental retardation (MR, n = 130), borderline MR (n = 124), and controls (n = 334) from an iodine deficiency area in China. The allelic and genotypic distribution of individual locus did not significantly differ among three groups with Mantel-Haenszel χ (2) test (P > 0.05). However, frequencies of haplotype of -491A/-427T/-219T/ε4 were distributed as MR > borderline MR > controls (P uncorrected = 0.004), indicating that the presence of this haplotype may increase the risk of disease.
In this large population-based study in children, we did not find any significant association between single locus of the four common ApoE polymorphisms (-491A/T, -427T/C, -219T/G, and ε2/3/4) and MR or borderline MR. However, we found that the presence of ATTε4 haplotype was associated with an increased risk of MR and borderline MR. Our present work may help enlarge our knowledge of the cognitive role of ApoE across the lifespan and the mechanisms of human cognition.
载脂蛋白E（ApoE）的几种常见单核苷酸多态性（SNP）与晚发性散发性阿尔茨海默病以及老年人正常认知能力下降有关，但我们尚不清楚它们与儿童认知的关系。
我们研究了来自中国一个碘缺乏地区的智力发育迟缓儿童（MR，n = 130）、边缘性MR儿童（n = 124）和对照组儿童（n = 334）中ApoE的-491A/T、-427T/C和-219G/T启动子多态性以及ε2/ε3/ε4。经Mantel-Haenszel χ²检验，三组个体位点的等位基因和基因型分布无显著差异（P > 0.05）。然而，-491A/-427T/-219T/ε4单倍型的频率分布为MR组>边缘性MR组>对照组（未校正P = 0.004），表明该单倍型的存在可能增加患病风险。
在这项针对儿童的大型基于人群的研究中，我们未发现四种常见ApoE多态性（-491A/T、-427T/C、-219T/G和ε2/3/4）的单个位点与MR或边缘性MR之间存在任何显著关联。然而，我们发现ATTε4单倍型的存在与MR和边缘性MR风险增加有关。我们目前的工作可能有助于扩展我们对ApoE在整个生命周期中认知作用以及人类认知机制的认识。
