Genetic association studies of complex neurological diseases

Genetic association studies offer a powerful approach to identify the multiple variants of small effect that modulate susceptibility to common, complex disease. They, however, have a poor reputation, mainly because of the consistent lack of replication of all but a few. Thousands of genetic studies...

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Bibliographic Details
Published in:Journal of neurology, neurosurgery and psychiatry neurosurgery and psychiatry, 2006-12, Vol.77 (12), p.1302-1304
Main Authors: Abou-Sleiman, P M, Hanna, M G, Wood, N W
Format: Article
Language:English
Subjects:
Biological and medical sciences
Case-Control Studies
Cohort Studies
Data analysis
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Demography
Disease
Genealogy
Genes
Genetic Predisposition to Disease
Genomes
Genotype
Genotype & phenotype
Haplotypes
Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy
Humans
Hypothesis testing
Medical sciences
Nervous system (semeiology, syndromes)
Nervous System Diseases - genetics
Neurology
Population
Research Design
Review
Sample Size
Statistical analysis
Studies
Citations: Items that cite this one
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Description
Summary:Genetic association studies offer a powerful approach to identify the multiple variants of small effect that modulate susceptibility to common, complex disease. They, however, have a poor reputation, mainly because of the consistent lack of replication of all but a few. Thousands of genetic studies have been carried out on multifactorial diseases in the past 30 years, yielding only about 50 variants that can be considered to be true positives. Although the positive studies show proof of principle, the multitude of negative studies indicate fundamental problems in the design and execution of association studies. Here, we discuss some of the more pertinent study design and data analysis issues which can affect the outcome of genetic association studies.
ISSN:0022-3050
1468-330X
DOI:10.1136/jnnp.2005.082024