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Our understanding of the genetic basis of disease has evolved from descriptions of overall heritability or familiality to the identification of large numbers of risk loci. One can quantify the impact of such loci on disease using a plethora of measures, which can guide future research decisions. However, different measures can attribute varying degrees of importance to a variant. In this Analysis, we consider and contrast the most commonly used measures - specifically, the heritability of disease liability, approximate heritability, sibling recurrence risk, overall genetic variance using a logarithmic relative risk scale, the area under the receiver-operating curve for risk prediction and the population attributable fraction - and give guidelines for their use that should be explicitly considered when assessing the contribution of genetic variants to disease.

Original publication




Journal article


Nature reviews. Genetics

Publication Date





765 - 776


1] Department of Epidemiology and Biostatistics, and Department of Urology, University of California, San Francisco. [2] Institute for Human Genetics, University of California, San Francisco. [3] Helen Diller Comprehensive Cancer Center, University of California, San Francisco, 1450 3rd Street, San Francisco, California 94158, USA.


Humans, Genetic Diseases, Inborn, Genetic Predisposition to Disease, Models, Statistical, Risk, Genotype, Quantitative Trait, Heritable, Genetic Variation, Genome-Wide Association Study