Literature DB >> 17418914

Association of a NOS1 promoter repeat with Alzheimer's disease.

Daniela Galimberti1, Elio Scarpini, Eliana Venturelli, Alexander Strobel, Sabine Herterich, Chiara Fenoglio, Ilaria Guidi, Diego Scalabrini, Francesca Cortini, Nereo Bresolin, Klaus-Peter Lesch, Andreas Reif.   

Abstract

The gene encoding NOS-I (NOS1) displays a complex transcriptional regulation, with nine alternative first exons. Exon 1c and 1f are the most abundant forms in the brain. A functional single nucleotide polymorphism (SNP) in exon 1c and a polymorphism in exon 1f, consisting of a variable number of tandem repeats (VNTR) originating short (S) and long (L) alleles, were studied in 184 patients with Alzheimer's disease (AD) and 144 gender- and age-matched controls. No differences were found for the Ex1c G-84A. The Ex1f-VNTR S allele was significantly more common in AD (55% versus 44%, P=0.009, OR=1.52) as was the S/S genotype (28% versus 14%, P=0.008; OR=2.37). The S allele showed a highly significant interaction with the ApoE epsilon 4 allele (OR: 10.83). Therefore, short alleles of the NOS1 exon 1f-VNTR are likely to be susceptibility factors for AD, and interact with the epsilon 4 allele to markedly increase the AD risk.

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Year:  2007        PMID: 17418914     DOI: 10.1016/j.neurobiolaging.2007.03.003

Source DB:  PubMed          Journal:  Neurobiol Aging        ISSN: 0197-4580            Impact factor:   4.673


  9 in total

1.  NOS1 ex1f-VNTR polymorphism affects prefrontal oxygenation during response inhibition tasks.

Authors:  Juliane Kopf; Martin Schecklmann; Tim Hahn; Alica C Dieler; Martin J Herrmann; Andreas J Fallgatter; Andreas Reif
Journal:  Hum Brain Mapp       Date:  2011-09-16       Impact factor: 5.038

2.  The effect of a functional NOS1 promoter polymorphism on impulsivity is moderated by platelet MAO activity.

Authors:  Kariina Laas; Andreas Reif; Sabine Herterich; Diva Eensoo; Klaus-Peter Lesch; Jaanus Harro
Journal:  Psychopharmacology (Berl)       Date:  2010-02-26       Impact factor: 4.530

3.  Genetics and biology of Alzheimer's disease and frontotemporal lobar degeneration.

Authors:  Daniela Galimberti; Elio Scarpini
Journal:  Int J Clin Exp Med       Date:  2010-05-15

4.  Genetic association analyses of nitric oxide synthase genes and neural tube defects vary by phenotype.

Authors:  Karen L Soldano; Melanie E Garrett; Heidi L Cope; J Michael Rusnak; Nathen J Ellis; Kaitlyn L Dunlap; Marcy C Speer; Simon G Gregory; Allison E Ashley-Koch
Journal:  Birth Defects Res B Dev Reprod Toxicol       Date:  2013-12-09

5.  Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease.

Authors:  Gary W Beecham; Badri Vardarajan; Elizabeth Blue; William Bush; James Jaworski; Sandra Barral; Anita DeStefano; Kara Hamilton-Nelson; Brian Kunkle; Eden R Martin; Adam Naj; Farid Rajabli; Christiane Reitz; Timothy Thornton; Cornelia van Duijn; Allison Goate; Sudha Seshadri; Lindsay A Farrer; Eric Boerwinkle; Gerard Schellenberg; Jonathan L Haines; Ellen Wijsman; Richard Mayeux; Margaret A Pericak-Vance
Journal:  Neurol Genet       Date:  2018-11-21

6.  Functionality of promoter microsatellites of arginine vasopressin receptor 1A (AVPR1A): implications for autism.

Authors:  Katherine E Tansey; Matthew J Hill; Lynne E Cochrane; Michael Gill; Richard Jl Anney; Louise Gallagher
Journal:  Mol Autism       Date:  2011-03-31       Impact factor: 7.509

7.  Constructing an integrated gene similarity network for the identification of disease genes.

Authors:  Zhen Tian; Maozu Guo; Chunyu Wang; LinLin Xing; Lei Wang; Yin Zhang
Journal:  J Biomed Semantics       Date:  2017-09-20

Review 8.  Searching the Dark Genome for Alzheimer's Disease Risk Variants.

Authors:  Rachel Raybould; Rebecca Sims
Journal:  Brain Sci       Date:  2021-03-06

Review 9.  Genome-wide association studies in ADHD.

Authors:  Barbara Franke; Benjamin M Neale; Stephen V Faraone
Journal:  Hum Genet       Date:  2009-04-22       Impact factor: 4.132

  9 in total

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