Alzheimer disease (AD) represents a group of multifactorial disorders characterized by a progressive decline of mental faculties eventually leading to dementia and death. Aging of human populations is behind the rapid worldwide increase in the prevalence of AD in recent decades. AD prevention critically depends on reliable AD-predictive genetic testing but its further development is delicately poised at present. New DNA-analyzing technologies such as the Next Generation Sequencing (NGS) have allowed rapid and comprehensive analysis of the genome and might have aided the research into the genetics of AD. However, discoveries of epigenetic mechanisms and non-coding forms of DNA and RNA - while helping to explain complexities of AD etiologies - have imposed additional challenges onto the AD diagnostics based on DNA analyses. Environmental factors can, via epigenetic mechanisms, modify both coding and non-coding DNA and this has to be respected in DNA testing, including NGS. Risk calculations based on the known odds and risk ratios for selected DNA polymorphisms are viable options at present, while the applications of neural network methodology seems the most promising way forward in the development of predictive AD tests in future.

Department of Epidemiology and Public Health Faculty of Medicine University of Ostrava Czech Republic

Laboratory of Neurobiology and Molecular Psychiatry Laboratory of Molecular Physiology Department of Biochemistry Faculty of Science Masaryk University Brno Czech Republic

School of Medical Sciences and Bosch Institute Sydney Medical School The University of Sydney Australia

Six genetically linked mutations in the CD36 gene significantly delay the onset of Alzheimer's disease

Polymorphism rs11867353 of Tyrosine Kinase Non-Receptor 1 (TNK1) Gene Is a Novel Genetic Marker for Alzheimer's Disease

Single Nucleotide Polymorphism rs11136000 of CLU Gene (Clusterin, ApoJ) and the Risk of Late-Onset Alzheimer's Disease in a Central European Population

GLAST But Not Least--Distribution, Function, Genetics and Epigenetics of L-Glutamate Transport in Brain--Focus on GLAST/EAAT1

A 40-bp VNTR polymorphism in the 3'-untranslated region of DAT1/SLC6A3 is associated with ADHD but not with alcoholism

Association between 5q23.2-located polymorphism of CTXN3 gene (Cortexin 3) and schizophrenia in European-Caucasian males; implications for the aetiology of schizophrenia