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Concepts, estimation and interpretation of SNP-based heritability.
Jian Yang1,2, Jian Zeng1, Michael E Goddard3,4
1Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
Nature Genetics
|August 31, 2017
Summary
SNP-based heritability (h²) estimates genetic variance in complex traits using genome-wide association studies (GWAS) in unrelated individuals. This perspective reviews methods, accuracy, and interpretation of these important genetic parameters.
Area of Science:
- Genetics
- Biostatistics
- Genomics
Background:
- Narrow-sense heritability (h²) traditionally required closely related individuals for estimation.
- Recent advancements enable SNP-based heritability (h²_SNP) estimation using genome-wide association study (GWAS) data in unrelated individuals.
Purpose of the Study:
- To review and discuss novel methods for estimating SNP-based heritability (h²_SNP) for complex traits.
- To explore the estimation of genetic correlations between traits using GWAS data.
- To address challenges and provide guidance on the accurate interpretation of h²_SNP estimates.
Main Methods:
- Discussion of recently developed statistical methods for estimating h²_SNP.
- Consideration of approaches using both individual-level and summary GWAS data.
- Analysis of factors influencing the accuracy of h²_SNP estimation.
Main Results:
- Emerging methods allow for robust estimation of h²_SNP in large, unrelated cohorts.
- These methods can also facilitate the estimation of genetic correlations between complex traits.
- Potential biases and interpretation nuances are highlighted.
Conclusions:
- SNP-based heritability (h²_SNP) offers a powerful tool for dissecting the genetic architecture of complex traits.
- Accurate application and interpretation of these methods are crucial for advancing genetic research.
- Understanding the assumptions and limitations is key to avoiding misinterpretations.
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