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Consistency in gene-Alzheimer’s disease association studies
  1. Javier Llorca1,
  2. Trinidad Dierssen-Sotos1,
  3. Onofre Combarros2,
  4. José Berciano2
  1. 1Division of Preventive Medicine and Public Health, University of Cantabria School of Medicine, Spain
  2. 2Service of Neurology, University Hospital Marqués de Valdecilla, Santander, Spain
  1. Correspondence to:
 Dr J Llorca
 Medicina Preventiva y Salud Pública, Avda Cardenal Herrera Oria s/n, 39011 Santander, Spain;

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Throughout the past decade, a great number of studies have been published searching for a gene-disease association. Ioannidis et al, studying a variety of diseases, pointed out that the first time such a relation is shown it correlates moderately with later results.1

Sporadic Alzheimer’s disease (AD) has been extensively studied searching for gene causation.2 Apart from the well established relation with ApoE ε-4 genotype, other gene candidates have weaker associations with AD and their role remains controversial. In fact, results from case-control studies are frequently contradictory and meta-analyses have been conducted to clarify whether a gene-AD association exists.3

The goal of this paper is to describe how the odds ratio between a gene and AD changes as new studies are published.


We included case-control studies published before July 2003 on AD and the following polymorphisms: myeloperoxidase 7 (6 studies),4–8 low density lipoprotein receptor related protein gene (LRP) exon 3 polymorphism (10 studies),9–18 Glu298Asp polymorphism in the endothelial nitric oxide synthetase (NOS-3) (10 studies),8,16,19–26 and cathepsin D (14 studies).8,16,27–37 A …

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  • Funding: none.

  • Conflicts of interest: none declared.

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