Human gene copy number variation and infectious disease
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- 作者：Edward J. Hollox ; Boon-Peng Hoh
- 刊名：Human Genetics
- 出版年：2014
- 出版时间：October 2014
- 年：2014
- 卷：133
- 期：10
- 页码：1217-1233
- 全文大小：708 KB
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Boon-Peng Hoh (2)
1. Department of Genetics, University of Leicester, University Road, Leicester, LE1 7RH, UK
2. Faculty of Medicine, Institute of Medical Molecular Biotechnology, Universiti Teknologi MARA, Sungai Buloh Campus, Jalan Hospital, Sungai Buloh, 47000, Malaysia - ISSN：1432-1203
文摘
Variability in the susceptibility to infectious disease and its clinical manifestation can be determined by variation in the environment and by genetic variation in the pathogen and the host. Despite several successes based on candidate gene studies, defining the host variation affecting infectious disease has not been as successful as for other multifactorial diseases. Both single nucleotide variation and copy number variation (CNV) of the host contribute to the host’s susceptibility to infectious disease. In this review we focus on CNV, particularly on complex multiallelic CNV that is often not well characterised either directly by hybridisation methods or indirectly by analysis of genotypes and flanking single nucleotide variants. We summarise the well-known examples, such as α-globin deletion and susceptibility to severe malaria, as well as more recent controversies, such as the extensive CNV of the chemokine gene CCL3L1 and HIV infection. We discuss the potential biological mechanisms that could underly any genetic association and reflect on the extensive complexity and functional variation generated by a combination of CNV and sequence variation, as illustrated by the Fc gamma receptor genes FCGR3A, FCGR3B and FCGR2C. We also highlight some understudied areas that might prove fruitful areas for further research.