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Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity (2017)
Journal Article
Carpenter, D., Mitchell, L., & Armour, J. A. (2017). Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity. Human Genomics, 11, doi:10.1186/s40246-017-0097-3. ISSN 1473-9542

Background Salivary amylase in humans is encoded by the copy variable gene AMY1 in the amylase gene cluster on chromosome 1. Although the role of salivary amylase is well established, the consequences of the copy number variation (CNV) at AMY1 on... Read More

Recurrent rearrangements of human amylase genes create multiple independent CNV series (2017)
Journal Article
Shwan, N. A., Louzada, S., Yang, F., & Armour, J. A. (2017). Recurrent rearrangements of human amylase genes create multiple independent CNV series. Human Mutation, 38(5), doi:10.1002/humu.23182. ISSN 1059-7794

The human amylase gene cluster includes the human salivary (AMY1) and pancreatic amylase genes (AMY2A and AMY2B), and is a highly variable and dynamic region of the genome. Copy number variation (CNV) of AMY1 has been implicated in human dietary adap... Read More

Selective sweep on human amylase genes postdates the split with Neanderthals (2016)
Journal Article
Inchley, C. E., Larbey, C. D., Shwan, N. A., Pagani, L., Saag, L., Antão, T., …Kivisild, T. (in press). Selective sweep on human amylase genes postdates the split with Neanderthals. Scientific Reports, 6, doi:10.1038/srep37198. ISSN 2045-2322

Humans have more copies of amylase genes than other primates. It is still poorly understood, however, when the copy number expansion occurred and whether its spread was enhanced by selection. Here we assess amylase copy numbers in a global sample of... Read More

Low alpha-defensin gene copy number increases the risk for IgA nephropathy and renal dysfunction (2016)
Journal Article
Ai, Z., Li, M., Liu, W., Foo, J., Mansouri, O., Yin, P., …Yu, X. (in press). Low alpha-defensin gene copy number increases the risk for IgA nephropathy and renal dysfunction. Science Translational Medicine, 8(345), doi:10.1126/scitranslmed.aaf2106. ISSN 1946-6234

IgA nephropathy (IgAN) is the most common primary glomerulonephritis worldwide. Although a major source of genetic variation, copy number variations (CNVs) and their involvement in disease development have not been well studied. Here, we performed as... Read More

Heritability of attractiveness to mosquitoes (2015)
Journal Article
Mandela Fernández-Grandon, G., Gezan, S. A., Armour, J. A., Pickett, J. A., & Logan, J. G. (in press). Heritability of attractiveness to mosquitoes. PLoS ONE, 10(4), doi:10.1371/journal.pone.0122716. ISSN 1932-6203

Female mosquitoes display preferences for certain individuals over others, which is determined by differences in volatile chemicals produced by the human body and detected by mosquitoes. Body odour can be controlled genetically but the existence of a... Read More

Inferring mechanisms of copy number change from haplotype structures at the human DEFA1A3 locus (2014)
Journal Article
Black, H. A., Khan, F. F., Tyson, J., & Armour, J. A. (in press). Inferring mechanisms of copy number change from haplotype structures at the human DEFA1A3 locus. BMC Genomics, 15(614), doi:10.1186/1471-2164-15-614. ISSN 1471-2164

Background: The determination of structural haplotypes at copy number variable regions can indicate the mechanisms responsible for changes in copy number, as well as explain the relationship between gene copy number and expression. However, obtaining... Read More

CCL3L1 copy number, CCR5 genotype and susceptibility to tuberculosis (2014)
Journal Article
Carpenter, D., Taype, C., Goulding, J., Levin, M., Eley, B., Anderson, S., …Armour, J. A. (in press). CCL3L1 copy number, CCR5 genotype and susceptibility to tuberculosis. BMC Medical Genetics, 15(5), doi:10.1186/1471-2350-15-5. ISSN 1471-2350

Background: Tuberculosis is a major infectious disease and functional studies have provided evidence that both the chemokine MIP-1α and its receptor CCR5 play a role in susceptibility to TB. Thus by measuring copy number variation of CCL3L1, one of t... Read More

Accurate measurement of gene copy number for human alpha-defensin DEFA1A3 (2013)
Journal Article
Khan, F. F., Carpenter, D., Mitchell, L., Mansouri, O., Black, H. A., Tyson, J., & Armour, J. A. (2013). Accurate measurement of gene copy number for human alpha-defensin DEFA1A3. BMC Genomics, 14(719), doi:10.1186/1471-2164-14-719. ISSN 1471-2164

Background: Multi-allelic copy number variants include examples of extensive variation between individuals in the copy number of important genes, most notably genes involved in immune function. The definition of this variation, and analysis of its i... Read More

CCL3L1 copy number and susceptibility to malaria (2012)
Journal Article
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), doi:10.1016/j.meegid.2012.03.021. ISSN 1567-1348

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 famil... Read More