title: The relationship between ADAM17 promoter polymorphisms and sporadic Alzheimer's disease in a Northern Chinese Han population.
abstract: The deposition of amyloid beta peptides (Abeta) 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 Abeta sequence and, therefore, precludes the formation of neurotoxic Abeta. 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.
authors.affiliation: Department of Neurology, Xuan Wu Hospital, Capital Medical University, 45 Changchun Street, Xuanwu District, Beijing 100053, China.
authors.forename: Min
authors.initials: M
authors.lastname: Wang
authors.forename: Yang
authors.initials: Y
authors.lastname: Li
authors.forename: Yan
authors.initials: Y
authors.lastname: Lu
authors.forename: Xiumei
authors.initials: X
authors.lastname: Zuo
authors.forename: Fen
authors.initials: F
authors.lastname: Wang
authors.forename: Zhijun
authors.initials: Z
authors.lastname: Zhang
authors.forename: Jianping
authors.initials: J
authors.lastname: Jia
mesh_terms: D051722:ADAM Proteins / Q000235:genetics*; D000072198:ADAM17 Protein; D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics; D044466:Asian People / Q000208:ethnology / Q000235:genetics; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic
chemical_list: D001057:Apolipoproteins E; D051722:ADAM Proteins; D000072198:ADAM17 Protein; C000606462:ADAM17 protein, human