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.
At a glance
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- Supplementary information S1 (table) (216 KB)
Measures of overall impact of risk variants for breast cancer.
- Supplementary information S2 (table) (329 KB)
Measures of overall impact of risk variants for Crohn's disease.
- Supplementary information S3 (table) (166 KB)
Measures of overall impact of risk variants for rheumatoid arthritis.
- Supplementary information S4 (table) (162 KB)
Measures of overall impact of risk variants for schizophrenia.