A comprehensive review of genetic association studies View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2002-04

AUTHORS

Joel N. Hirschhorn, Kirk Lohmueller, Edward Byrne, Kurt Hirschhorn

ABSTRACT

Most common diseases are complex genetic traits, with multiple genetic and environmental components contributing to susceptibility. It has been proposed that common genetic variants, including single nucleotide polymorphisms (SNPs), influence susceptibility to common disease. This proposal has begun to be tested in numerous studies of association between genetic variation at these common DNA polymorphisms and variation in disease susceptibility. We have performed an extensive review of such association studies. We find that over 600 positive associations between common gene variants and disease have been reported; these associations, if correct, would have tremendous importance for the prevention, prediction, and treatment of most common diseases. However, most reported associations are not robust: of the 166 putative associations which have been studied three or more times, only 6 have been consistently replicated. Interestingly, of the remaining 160 associations, well over half were observed again one or more times. We discuss the possible reasons for this irreproducibility and suggest guidelines for performing and interpreting genetic association studies. In particular, we emphasize the need for caution in drawing conclusions from a single report of an association between a genetic variant and disease susceptibility. More... »

PAGES

45-61

Journal

TITLE

Genetics in Medicine

ISSUE

2

VOLUME

4

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1097/00125817-200203000-00002

    DOI

    http://dx.doi.org/10.1097/00125817-200203000-00002

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1009382219

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/11882781


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