Danielle Carpenter
CCL3L1 copy number and susceptibility to malaria
Carpenter, Danielle; F�rnert, Anna; Ingegard, Rooth; Armour, John A.L.; Shaw, Marie-Anne
Authors
Anna F�rnert
Rooth Ingegard
John A.L. Armour
Marie-Anne Shaw
Abstract
Copy number variation can contribute to the variation observed in susceptibility to complex diseases. Here we present the first study to investigate copy number variation of the chemokine gene CCL3L1 with susceptibility to malaria. We present a family-based genetic analysis of a Tanzanian population (n = 922), using parasite load, mean number of clinical infections of malaria and haemoglobin levels as phenotypes. Copy number of CCL3L1 was measured using the paralogue ratio test (PRT) and the dataset exhibited copy numbers ranging between 1 and 10 copies per diploid genome (pdg). Association between copy number and phenotypes was assessed. Furthermore, we were able to identify copy number haplotypes in some families, using microsatellites within the copy variable region, for transmission disequilibrium testing. We identified a high level of copy number haplotype diversity and find some evidence for an association of low CCL3L1 copy number with protection from anaemia.
Citation
Carpenter, D., Färnert, A., Ingegard, R., Armour, J. A., & Shaw, M. (2012). CCL3L1 copy number and susceptibility to malaria. Infection, Genetics and Evolution, 12(5), https://doi.org/10.1016/j.meegid.2012.03.021
Journal Article Type | Article |
---|---|
Publication Date | Jul 1, 2012 |
Deposit Date | Apr 4, 2014 |
Publicly Available Date | Apr 4, 2014 |
Journal | Infection Genetics and Evolution |
Electronic ISSN | 1567-1348 |
Publisher | Elsevier |
Peer Reviewed | Peer Reviewed |
Volume | 12 |
Issue | 5 |
DOI | https://doi.org/10.1016/j.meegid.2012.03.021 |
Public URL | https://nottingham-repository.worktribe.com/output/1007084 |
Publisher URL | http://www.sciencedirect.com/science/article/pii/S1567134812001025 |
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Copyright information regarding this work can be found at the following address: http://creativecommons.org/licenses/by/4.0
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