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Updated: Jul 15, 2025
09:21
Serum and Plasma Copy Number Detection Using Real-time PCR
Published on: December 15, 2017
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Copy number variations and their effect on the plasma proteome.
Daniel Schmitz1, Zhiwei Li1, Valeria Lo Faro1
1Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Box 815, 751 08 Uppsala, Sweden.
Genetics
|October 4, 2023
Summary
Common structural variations called copy number variations (CNVs) impact human health. This study characterized CNVs in a Swedish cohort, revealing associations between specific CNVs and 16 plasma proteins, including one linked to bone health.
Area of Science:
- Human Genetics
- Genomics
- Proteomics
Background:
- Structural variations, particularly copy number variations (CNVs), significantly alter the human genome and are implicated in rare diseases.
- CNVs are often overlooked in complex disease research due to limitations in genotyping arrays and genetic imputation reference panels.
Purpose of the Study:
- To characterize common copy number variations (CNVs) in a Swedish population cohort.
- To investigate the impact of these CNVs on the plasma proteome.
- To validate findings using complementary sequencing technologies.
Main Methods:
- Whole-genome sequencing (WGS) using short reads for CNV characterization in 1,021 individuals.
- Long-read WGS for validation of identified CNVs in a subset of 15 individuals.
- Statistical analysis to associate CNVs with 438 measured plasma proteins.
Main Results:
- Identification of 184,182 polymorphic CNVs.
- Discovery of 15 CNVs significantly associated with 16 distinct plasma proteins (P < 8.22×10-10).
- Validation of 5 CNVs, including one upstream of the OSCAR gene linked to bone health, and characterization of complex structural rearrangements.
Conclusions:
- Common CNVs significantly influence the plasma proteome.
- Investigating common CNVs is crucial for understanding complex diseases.
- This study provides insights into CNV structure and their functional consequences on protein levels.
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