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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

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Published on: November 3, 2010

Genetic Influences on Disease Subtypes.

Andy Dahl^1,2,3, Noah Zaitlen^2,3

¹Section of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, Illinois 60637, USA;

Annual Review of Genomics and Human Genetics

|September 3, 2020

Summary

This summary is machine-generated.

This review explores disease subtyping, proposing genetic heterogeneity as the gold standard for identifying biologically distinct subtypes of complex polygenic diseases. It details methods for finding and validating these genetic subtypes.

Keywords:

clustering genetic architecture genetic heterogeneity precision medicine subtypes

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Area of Science:

Genetics
Medical Informatics
Disease Classification

Background:

Disease classification (nosology) evolved from clinical features to advanced phenotyping and genetic data.
Genetic data has driven a surge in disease subtyping, yet definitions remain inconsistent across fields.
Different fields pursue distinct goals and technologies, leading to conflicting disease subtype definitions.

Purpose of the Study:

To review classical and recent disease subtyping approaches.
To define subtypes with distinct causal disease biology (for scientists) and pragmatic medical benefits (for physicians).
To propose genetic heterogeneity as the gold standard for biologically distinct subtypes of complex polygenic diseases.

Main Methods:

Review of existing literature on disease classification and subtyping methods.
Focus on identifying and validating genetic subtypes.
Emphasis on common pitfalls in genetic subtyping research.

Main Results:

Subtypes with distinct causal biology are of primary scientific interest.
Subtypes with pragmatic medical benefits are of primary physician interest.
Genetic heterogeneity is proposed as the gold standard for biologically distinct subtypes.

Conclusions:

Refining disease definitions and subtypes is crucial but challenging due to field-specific goals and technologies.
Genetic heterogeneity offers a robust framework for defining biologically distinct subtypes of complex polygenic diseases.
Careful methodology is required to find and validate genetic subtypes, avoiding common pitfalls.