TY - JOUR
T1 - Association between ε 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
AU - Li, Jun
AU - Zhang, Fuchang
AU - Wang, Yunliang
AU - Wang, Yan
AU - Qin, Wei
AU - Xing, Qinghe
AU - Qian, Xueqing
AU - Guo, Tingwei
AU - Gao, Xiaocai
AU - He, Lin
AU - Gao, Jianjun
PY - 2014
Y1 - 2014
N2 - 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 - 491 A / T, - 427 T / C, and - 219 G / T promoter polymorphisms and ε 2 / ε 3 / ε 4 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 - 491 A / - 427 T / - 219 T / ε 4 were distributed as MR > borderline MR > controls (P 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 (- 491 A / T, - 427 T / C, - 219 T / G, and ε 2 / 3 / 4) and MR or borderline MR. However, we found that the presence of ATT ε 4 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.
AB - 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 - 491 A / T, - 427 T / C, and - 219 G / T promoter polymorphisms and ε 2 / ε 3 / ε 4 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 - 491 A / - 427 T / - 219 T / ε 4 were distributed as MR > borderline MR > controls (P 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 (- 491 A / T, - 427 T / C, - 219 T / G, and ε 2 / 3 / 4) and MR or borderline MR. However, we found that the presence of ATT ε 4 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.
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U2 - 10.1155/2014/236702
DO - 10.1155/2014/236702
M3 - Article
C2 - 24790992
AN - SCOPUS:84899556653
SN - 2314-6133
VL - 2014
JO - BioMed Research International
JF - BioMed Research International
M1 - 236702
ER -