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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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Related Experiment Video

Updated: May 19, 2026

Single-cell Analysis of Immunophenotype and Cytokine Production in Peripheral Whole Blood via Mass Cytometry

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Copy number variation in autoimmunity--importance hidden in complexity?

Lina M Olsson¹, Rikard Holmdahl

¹Medical Inflammation Research, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.

European Journal of Immunology

|August 7, 2012

Summary

Copy number variations (CNVs) are key genetic differences. While immune genes show CNVs, their link to autoimmune diseases remains unclear due to conflicting evidence and technical challenges.

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Area of Science:

Genetics
Immunology
Genomic Variation

Background:

Copy number variation (CNV) represents a significant source of genetic diversity in the human genome.
Genes involved in immunological functions are frequently subject to CNVs, potentially expanding immune recognition capabilities.
Despite the known association between immune function and CNVs, few CNVs have been definitively linked to autoimmune diseases.

Purpose of the Study:

To review the current understanding of copy number variants (CNVs) in relation to autoimmune diseases.
To explore the reasons behind the scarcity of established CNV-autoimmunity associations.
To discuss the technical challenges hindering research in this field.

Main Methods:

Review of existing literature on copy number variation and autoimmune diseases.
Analysis of genome-wide CNV-association studies.
Examination of specific CNVs (e.g., FCGR3B, DEFB4, CCL3L1, C4A/B, NCF1) and their proposed links to autoimmunity.

Main Results:

Conflicting evidence exists for the association of several CNVs (FCGR3B, DEFB4, CCL3L1, C4A/B, NCF1) with autoimmune diseases.
Large-scale genome-wide studies have yielded limited definitive associations between CNVs and autoimmune conditions.
The field faces significant technical hurdles in establishing robust CNV-autoimmunity links.

Conclusions:

The relationship between copy number variation and autoimmune diseases is complex and not yet well-defined.
Further research is needed to overcome technical challenges and clarify the role of CNVs in autoimmunity.
Understanding CNV associations is crucial for advancing the study of genetic variance in immune-related disorders.