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Updated: Jun 25, 2026
10:17
An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
Copy number variation in the human genome and its implication in autoimmunity.
H Schaschl1, T J Aitman, T J Vyse
1Imperial College London, Faculty of Medicine, Section of Molecular Genetics and Rheumatology, Hammersmith Campus, London, UK.
Clinical and Experimental Immunology
|February 18, 2009
Summary
Genetic factors influence autoimmune disease susceptibility. Copy number variation (CNV) in DNA segments is a key genetic element, offering new insights into autoimmune conditions beyond single nucleotide polymorphism studies.
Area of Science:
- Genetics
- Immunology
- Genomics
Background:
- Autoimmune disease causes are not fully understood, but genetic susceptibility plays a role.
- Previous research focused on single nucleotide polymorphisms (SNPs) for mapping and identifying causal variants.
- Recent genome-wide studies highlight DNA copy number variation (CNV) as a significant source of genomic polymorphism.
Purpose of the Study:
- To explore the role of copy number variation (CNV) in autoimmune disease susceptibility.
- To investigate how CNV contributes to phenotypic variation and population differentiation.
- To identify novel autoimmune susceptibility loci using advanced analytical techniques.
Main Methods:
- Genome-wide analytical techniques to detect DNA copy number variations.
- Analysis of genomic regions containing dosage-sensitive genes.
- Comparison of CNV-based association analyses with single nucleotide polymorphism-based methods.
Main Results:
- Copy number variation (CNV) represents a substantial component of human genomic polymorphism.
- CNV in dosage-sensitive gene regions can cause or predispose individuals to genetic diseases.
- Studies have reported associations between CNV and human autoimmune diseases like lupus, psoriasis, Crohn's disease, rheumatoid arthritis, and type 1 diabetes.
Conclusions:
- Copy number variation (CNV) is an important genetic factor in autoimmune diseases.
- Novel analytical techniques enable the discovery of CNV-associated autoimmune susceptibility loci.
- CNV analysis provides a complementary approach to SNP analysis for understanding complex genetic architectures in autoimmunity.
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Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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