Heritability estimation in case-control studies

DOI10.1214/18-EJS1424MaRDI QIDQ1639193zbMATH OpenOpenAlexFDO

Authors Anna Bonnet

Publication date 12 June 2018

Published in Electronic Journal of Statistics (Search for Journal in Brave)

Full work available at URL https://arxiv.org/abs/1611.02910, https://projecteuclid.org/euclid.ejs/1527559245

zbMATH Keywords

case-control studiesheritabilityhigh dimensionmixed modelsphenotype correlation genotype correlation (PCGC) regression

Mathematics Subject Classification ID

Nonparametric regression and quantile regression (62G08) Applications of statistics to biology and medical sciences; meta analysis (62P10)

Abstract: In the field of genetics, the concept of heritability refers to the proportion of variations of a biological trait or disease that can be explained by genetic factors. Quantifying the heritability of a disease is a fundamental challenge in human genetics, especially when the causes are plural and not clearly identified. Although the literature regarding heritability estimation for binary traits is less rich than for quantitative traits, several methods have been proposed to estimate the heritability of complex diseases. However, to the best of our knowledge, the existing methods are not supported by theoretical grounds. Moreover, most of the methodologies do not take into account a major specificity of the data coming from medical studies, which is the oversampling of the number of patients compared to controls. We propose in this paper to investigate the theoretical properties of the method developed by Golan et al. (2014), which is very efficient in practice, despite the oversampling of patients. Our main result is the proof of the consistency of this estimator. We also provide a numerical study to compare two approximations leading to two heritability estimators.

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Cites work

• Approximate Inference in Generalized Linear Mixed Models
• Efficient computation with a linear mixed model on large-scale data sets with applications to genetic studies
• Heritability estimation in high dimensional sparse linear mixed models
• scientific article; zbMATH DE number 837912 (Why is no real title available?)
• On high-dimensional misspecified mixed model analysis in genome-wide association study
• Recovery of inter-block information when block sizes are unequal

Cited in

(2)

• Modification of beta-binomial method of estimation of heritability of staybility
• Testing the heritability and parent‐of‐origin hypotheses for ages at onset of psoriatic arthritis under biased sampling

Describes a project that uses

Uses Software

• MCMCglmm
• GCTA

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