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Genetic association studies are central to efforts to identify and characterise genomic variants underlying susceptibility to multifactorial disease. However, obtaining robust replication of initial association findings has proved difficult. Much of this inconsistency can be attributed to inadequacies in study design, implementation, and interpretation--inadequately powered sample groups are a major concern. Several additional factors affect the quality of any given association study, with appropriate sample-recruitment strategy, logical variant selection, minimum genotyping error, relevant data analysis, and valid interpretation all essential to generation of robust findings. Replication has a vital role in showing that associations that are identified reflect interesting biological processes rather than methodological quirks. For an unbiased view of the evidence for and against any particular association, study quality, rather than significance value, needs to play the dominant part.

Original publication

DOI

10.1016/S0140-6736(05)67531-9

Type

Journal article

Journal

Lancet

Publication Date

08/10/2005

Volume

366

Pages

1315 - 1323

Keywords

Gene Frequency, Genetic Markers, Genetic Predisposition to Disease, Genetic Variation, Genotype, Humans, Polymorphism, Genetic