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SIRT1、PPARD、PGC-1α基因与阿尔茨海默病的遗传学研究。

Genetic study between SIRT1, PPARD, PGC-1alpha genes and Alzheimer's disease.

作者信息

Helisalmi S, Vepsäläinen S, Hiltunen M, Koivisto A M, Salminen A, Laakso M, Soininen H

机构信息

Institute of Clinical Medicine, Unit of Neurology and Brain Research Unit, Clinical Research Center, Mediteknia, Kuopio University, PL 1627, 70211 Kuopio, Finland.

出版信息

J Neurol. 2008 May;255(5):668-73. doi: 10.1007/s00415-008-0774-1. Epub 2008 Apr 30.

Abstract

Single nucleotide polymorphisms (SNPs) in three diabetes-related genes (SIRT1, PPARD, PGC-1alpha) were investigated with a case-control approach. To examine the genetic association of those genes with Alzheimer's disease (AD) risk, we used the TaqMan technique to genotype five SNP sites for SIRT1, six for PPARD and eight for the PGC-1alpha gene, in 326 Finnish AD cases and 463 controls and conducted a single allele and genotypic distribution comparison as well as estimated haplotype frequencies between cases and controls. No significant differences in AD risk were found in single SNP and haplotype analyses for any of the three genes between 326 cases and 463 controls. However, in a subgroup of women older than 65 years, the frequencies of three SNPs in the SIRT1 gene were significantly different between AD and controls. We conclude that there is no real association with SNPs available in the present study between SIRT1, PPARD or PGC-1alpha genes and AD risk in the Finnish population.

摘要

采用病例对照研究方法,对三个糖尿病相关基因(SIRT1、PPARD、PGC - 1α)中的单核苷酸多态性(SNP)进行了研究。为了研究这些基因与阿尔茨海默病(AD)风险之间的遗传关联,我们运用TaqMan技术,对326例芬兰AD患者和463例对照者的SIRT1基因的5个SNP位点、PPARD基因的6个SNP位点以及PGC - 1α基因的8个SNP位点进行基因分型,并对病例组和对照组之间的单个等位基因和基因型分布进行比较,同时估计单倍型频率。在326例病例和463例对照者中,对这三个基因中的任何一个进行单SNP和单倍型分析时,均未发现AD风险存在显著差异。然而,在年龄大于65岁的女性亚组中,SIRT1基因的三个SNP频率在AD患者和对照者之间存在显著差异。我们得出结论,在本研究中,芬兰人群的SIRT1、PPARD或PGC - 1α基因中的SNP与AD风险之间不存在实际关联。

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