Copy number polymorphisms are not a common feature of innate immune genes.
Linzmeier. Rose M RM; Ganz. Tomas T
Key Findings
- LL‑37 (CAMP) gene is single‑copy per haploid genome
- Other innate immune genes studied also show no copy‑number variation
- Copy‑number polymorphisms are limited to a few defensin genes, not LL‑37
Practical Outcomes
- Since LL‑37 copy number doesn’t vary, you don’t need genetic testing to predict its baseline levels. Boosting LL‑37 should focus on lifestyle, diet, or supplementation rather than trying to “fix” a genetic copy‑number issue.
Summary
The research shows that the gene for the antimicrobial peptide LL‑37 (cathelicidin) is present as a single copy in virtually everyone, meaning there’s no common genetic variation that changes how much of it you can naturally make.
Abstract
Extensive copy number polymorphism was recently reported for innate immunity-related alpha-defensin genes DEFA1 and DEFA3 and beta-defensin genes DEFB4, DEFB103, and DEFB104. To establish whether such polymorphisms are a common feature of innate immune genes we used quantitative real-time PCR to determine the copy numbers of seven genes whose products have important innate immune functions. The genes encoding lysozyme, lactoferrin, cathelicidin antimicrobial peptide (hCAP18/LL-37), cathepsin G, bactericidal/permeability-increasing protein, azurocidin (CAP37/heparin-binding protein), and neutrophil elastase were each found to be single copy per haploid genome. These findings, along with the recent observation that defensin genes DEFA4, DEFA5, DEFA6, and DEFB1 are single copy, suggest that copy number polymorphisms are not a common feature of the innate immune genome but are restricted to a small subset of innate immunity-related genes.
Study Information
pubmed
2006
2006-04-17T00:00:00.000Z
10.1016/j.ygeno.2006.03.005