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Related Experiment Video

Updated: Jun 19, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Sporadic cases are the norm for complex disease.

Jian Yang¹, Peter M Visscher, Naomi R Wray

¹Queensland Institute of Medical Research, Brisbane, Queensland, Australia. jian.yang@qimr.edu.au

European Journal of Human Genetics : EJHG

|October 15, 2009

Summary

Most complex diseases follow polygenic inheritance, meaning many genes contribute small risks. This study shows that a high proportion of sporadic cases are expected, even with genetic contributions, for common diseases.

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Area of Science:

Genetics
Complex Diseases
Quantitative Genetics

Background:

Genome-wide association studies indicate complex diseases result from numerous variants with small effects, suggesting polygenic inheritance.
The high observed frequency of sporadic cases in complex diseases has led to arguments for genetic heterogeneity.

Purpose of the Study:

To derive the expected proportion of sporadic cases under a polygenic inheritance model.
To investigate the relationship between disease prevalence, heritability, and the proportion of sporadic cases.
To predict heritability and sporadic case proportions for various complex human diseases.

Main Methods:

Analytical methods were employed to derive the expected proportion of sporadic cases.
Simulations were conducted to validate analytical predictions.
The study analyzed the dependence of sporadic case proportion on disease prevalence (K) and liability heritability (h(L)^2).

Main Results:

The proportion of sporadic cases is predicted to be substantial for most complex diseases under polygenic inheritance.
For a disease like schizophrenia (h(L)^2=63%, K=0.4%), over 83% of cases are predicted to be sporadic.
The study demonstrates that a large proportion of sporadic cases is consistent with polygenic inheritance, irrespective of the causal mechanism.

Conclusions:

The observed high frequency of sporadic cases in complex genetic diseases is not necessarily indicative of genetic heterogeneity.
Polygenic inheritance models can adequately explain the prevalence of sporadic cases.
The proportion of sporadic cases is a predictable outcome of disease prevalence and heritability within a polygenic framework.