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

Jun Li, Fuchang Zhang, Yunliang Wang, Yan Wang, Wei Qin, Qinghe Xing, Xueqing Qian, Tingwei Guo, Xiaocai Gao, Lin He, Jianjun Gao

Research output: Contribution to journalArticle

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Abstract

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.

Original languageEnglish (US)
Article number236702
JournalBioMed Research International
Volume2014
DOIs
StatePublished - 2014
Externally publishedYes

Fingerprint

Apolipoproteins
Apolipoproteins E
Polymorphism
Intellectual Disability
Iodine
Haplotypes
China
Genes
Cognition
Apolipoprotein E4
Aptitude
Single Nucleotide Polymorphism
Alzheimer Disease
Nucleotides
Population
apolipoprotein G

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Immunology and Microbiology(all)
  • Medicine(all)

Cite this

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. / Li, Jun; Zhang, Fuchang; Wang, Yunliang; Wang, Yan; Qin, Wei; Xing, Qinghe; Qian, Xueqing; Guo, Tingwei; Gao, Xiaocai; He, Lin; Gao, Jianjun.

In: BioMed Research International, Vol. 2014, 236702, 2014.

Research output: Contribution to journalArticle

Li, Jun ; Zhang, Fuchang ; Wang, Yunliang ; Wang, Yan ; Qin, Wei ; Xing, Qinghe ; Qian, Xueqing ; Guo, Tingwei ; Gao, Xiaocai ; He, Lin ; Gao, Jianjun. / 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. In: BioMed Research International. 2014 ; Vol. 2014.
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abstract = "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.",
author = "Jun Li and Fuchang Zhang and Yunliang Wang and Yan Wang and Wei Qin and Qinghe Xing and Xueqing Qian and Tingwei Guo and Xiaocai Gao and Lin He and Jianjun Gao",
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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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