title: Genetic Variants and Related Biomarkers in Sporadic Alzheimer's Disease.
abstract: From a neuropathological perspective, elderly patients who die with a clinical diagnosis of sporadic Alzheimer's disease (AD) are a heterogeneous group with several different pathologies contributing to the AD phenotype. This poses a challenge when searching for low effect size susceptibility genes for AD. Further, control groups may be contaminated by significant numbers of preclinical AD patients, which also reduces the power of genetic association studies. Here, we discuss how cerebrospinal fluid and imaging biomarkers can be used to increase the chance of finding novel susceptibility genes and as a means to study the functional consequences of risk alleles.
authors: Department of Molecular Neuroscience, UCL Institute of Neurology, 1 Wakefield Street (1st Floor), London, WC1N 1PJ UK.
authors: Rita
authors: R
authors: Guerreiro
authors: Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG UK.
authors: Jose
authors: J
authors: Bras
authors: Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG UK.
authors: Jamie
authors: J
authors: Toombs
authors: Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG UK.
authors: Amanda
authors: A
authors: Heslegrave
authors: Department of Molecular Neuroscience, UCL Institute of Neurology, 1 Wakefield Street (1st Floor), London, WC1N 1PJ UK.
authors: John
authors: J
authors: Hardy
authors: Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG UK ; Clinical Neurochemistry Laboratory, Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, The Sahlgrenska Academy at University of Gothenburg, Mölndal, Sweden.
authors: Henrik
authors: H
authors: Zetterberg
keywords: Cerebrospinal fluid; Imaging biomarkers; Novel susceptibility genes; Risk alleles