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BioMed Research International
Volume 2014, Article ID 236702, 6 pages
Research Article

Association between 2/3/4, Promoter Polymorphism (−491A/T, −427T/C, and −219T/G) at the Apolipoprotein E Gene, and Mental Retardation in Children from an Iodine Deficiency Area, China

1Bio-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
2Institute for Neuropsychiatric Science and Metabonomics, Changning Mental Health Center, Shanghai 200335, China
3Key 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
4Department of Neurology, the 148th Hospital, Zibo, Shandong 255300, China
5Shanghai Institute of Planned Parenthood Research, 200013, Shanghai, China
6Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Graduate School of Chinese Academy Sciences, Shanghai 200031, China

Received 16 January 2014; Accepted 18 February 2014; Published 25 March 2014

Academic Editor: Shiwei Duan

Copyright © 2014 Jun Li et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Background. 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. Results. We studied , , and promoter polymorphisms and at ApoE among children with mental retardation (MR, ), borderline MR ( ), and controls ( ) 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 test ( ). However, frequencies of haplotype of / / / were distributed as MR > borderline MR > controls ( uncorrected = 0.004), indicating that the presence of this haplotype may increase the risk of disease. Conclusions. In this large population-based study in children, we did not find any significant association between single locus of the four common ApoE polymorphisms ( , , , and ) and MR or borderline MR. However, we found that the presence of ATT 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.