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在日本人群中,ghrelin 多态性与阿尔茨海默病的遗传关联。

Genetic association between ghrelin polymorphisms and Alzheimer's disease in a Japanese population.

机构信息

Department of Psychiatry, Juntendo University School of Medicine, Tokyo, Japan. nshibata @ juntendo.ac.jp

出版信息

Dement Geriatr Cogn Disord. 2011;32(3):178-81. doi: 10.1159/000333075. Epub 2011 Oct 14.

DOI:10.1159/000333075
PMID:22005651
Abstract

BACKGROUND/AIMS: Ghrelin has been reported to enter the hippocampus and to bind to the neurons of the hippocampal formation. This peptide also affects neuronal glucose uptake and decreases tau hyperphosphorylation. There is increasing evidence suggesting an association between ghrelin and Alzheimer's disease (AD) pathology. The aim of this study was to investigate whether single nucleotide polymorphisms (SNPs) of the ghrelin gene are associated with AD.

METHODS

The SNPs were genotyped using TaqMan technology and were analyzed using a case-control study design. Our case-control dataset consisted of 182 AD patients and 143 age-matched controls.

RESULTS

Hardy-Weinberg equilibrium and linkage disequilibrium analyses suggest that the region in and around the gene is highly polymorphic. One SNP, rs4684677 (Leu90Gln), showed a marginal association with age of AD onset. We did not detect any association between the other SNPs of the ghrelin gene and AD.

CONCLUSION

There have been few genetic studies on the relationship between circulating ghrelin and functional SNPs. Further multifactorial studies are needed to clarify the relationship between ghrelin and AD.

摘要

背景/目的:已有研究报道,ghrelin 可以进入海马体并与海马结构的神经元结合。该肽还可以影响神经元的葡萄糖摄取并减少 tau 过度磷酸化。越来越多的证据表明 ghrelin 与阿尔茨海默病(AD)的病理之间存在关联。本研究旨在探讨 ghrelin 基因的单核苷酸多态性(SNP)是否与 AD 相关。

方法

采用 TaqMan 技术对 SNP 进行基因分型,并采用病例对照研究设计进行分析。我们的病例对照数据集包括 182 名 AD 患者和 143 名年龄匹配的对照。

结果

Hardy-Weinberg 平衡和连锁不平衡分析表明,该基因及其周围区域高度多态。一个 SNP,rs4684677(Leu90Gln),与 AD 发病年龄呈边缘关联。我们没有发现 ghrelin 基因的其他 SNP 与 AD 之间存在任何关联。

结论

关于循环 ghrelin 与功能 SNP 之间关系的遗传研究较少。需要进一步的多因素研究来阐明 ghrelin 与 AD 之间的关系。

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