The relationship between ADAM17 promoter polymorphisms and sporadic Alzheimer’s disease in a Northern Chinese Han population

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• 作者：Min Wang ; Yang Li ; Yan Lu ; Xiumei Zuo ; Fen Wang ; Zhijun Zhang ; Jianping Jia
• 关键词：ADAM17 ; Alzheimer’ ; s disease ; Promoter ; Single nucleotide polymorphism
• 刊名：Journal of Clinical Neuroscience
• 出版年：2010
• 出版时间：October 2010
• 年：2010
• 卷：17
• 期：10
• 页码：1276-1279
• 全文大小：149 K

文摘

The deposition of amyloid beta peptides (Aβ) in the brain is crucial in the pathogenesis of Alzheimer’s disease (AD). A disintegrin and metalloproteinase (ADAM) 17 cleaves the amyloid precursor protein (APP) within the Aβ sequence and, therefore, precludes the formation of neurotoxic Aβ. To explore the correlation between the ADAM17 promoter and sporadic AD (SAD), a case-control study was conducted in a Northern Chinese Han population. The ADAM17 gene promoter region was screened, resulting in five known and one novel single nucleotide polymorphisms (SNP): −1672C/T (rs11689958), −1638T/G (rs1524668), −1437T/C (rs11684747), −1333C/T (rs12474969), −172T/C (rs12692386) and −154C/A. Using direct sequencing, genotypes were determined in 403 patients who had SAD and 323 control participants. No association was observed between these polymorphisms and SAD. These data indicated that, in a Northern Chinese Han population, SNP in the ADAM17 promoter do not influence the risk of SAD.