Document Detail

Genome-wide association studies may be misinterpreted: genes versus heritability.
MedLine Citation:
PMID:  21565827     Owner:  NLM     Status:  MEDLINE    
Much of the literature on genome-wide association studies (GWAS) is based on the premise that an important proportion of common diseases is heritable and that this proportion is likely to be due to genetic variants detectable with extensive scans of the DNA. Heritability is estimated from family studies, including twin studies and is based on the comparison of the variation in disease among different members of particular families. Since there is a wide gap between the population variation in disease explained by the results of GWAS (usually <10% for common diseases) and estimates of heritability (often >50%), the question arises as to how to explain these differences. However, the premise for this question is based on two sources of misunderstanding: (i) confusion between variation and causation and (ii) confusion between heritability and genetic determination. As we show with a number of examples, variation is not causation and heritability is not genetic determination. Therefore, heritability studies do not provide valid estimates of the proportion of disease cases that are attributable to genetic factors. Such estimates in turn cannot be used to estimate the proportion of cases that are due to environmental factors.
Paolo Vineis; Neil E Pearce
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review     Date:  2011-05-11
Journal Detail:
Title:  Carcinogenesis     Volume:  32     ISSN:  1460-2180     ISO Abbreviation:  Carcinogenesis     Publication Date:  2011 Sep 
Date Detail:
Created Date:  2011-09-05     Completed Date:  2011-10-27     Revised Date:  2013-04-30    
Medline Journal Info:
Nlm Unique ID:  8008055     Medline TA:  Carcinogenesis     Country:  England    
Other Details:
Languages:  eng     Pagination:  1295-8     Citation Subset:  IM    
Molecular and Genetic Epidemiology Unit-HuGeF, MRC/HPA Centre for Environment and Health, School of Public Health, Imperial College, Norfolk Place, W2 1PG London, UK.
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MeSH Terms
Genetic Predisposition to Disease
Genetic Variation
Genome-Wide Association Study*
Spondylitis, Ankylosing / genetics

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