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From Family Study to Population Study: A History of Genetic Mapping for Nasopharyngeal Carcinoma (NPC)

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Applied Computational Genomics

Part of the book series: Translational Bioinformatics ((TRBIO,volume 1))

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Abstract

Nasopharyngeal carcinoma (NPC) has a unique global distribution pattern – Southeast Asia and some other localized regions of the eastern hemisphere – that suggests risk is largely driven by a combination of environmental exposures and specific genetic factors. Earlier linkage analysis has implicated loci in the human leukocyte antigen (HLA) gene region, thus suggesting a role for immunological mechanisms in NPC resistance. Nevertheless, the implications of the HLA associations remain enigmatic. More recent association studies have sought to advance our understanding of the genes important to NPC risk. Reviewed here are recent epidemiologic studies that have addressed the genetics of NPC risk, and the implications of their collective findings are discussed. The primary focus is on the latest candidate-gene association studies (CGAS) and genome-wide association studies (GWAS), and attempts are made to harmonize their findings and resolve discrepancies. Taken together, the studies support the importance of the HLA loci, but also implicate non-HLA genes both inside and outside the HLA region, and suggest that the mechanisms of NPC risk go beyond immunology. Finally, recommendations are made to coordinate future CGAS and GWAS to maximize their information content and make best use of the limited number of available NPC study populations.

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Acknowledgements

Author Affiliations: The Fisher Center for Familial Cancer Research, Lombardi Cancer Center, Georgetown University Medical Center, Washington, DC 20007, USA (Timothy J. Jorgensen); Unit of Statistical Genomics, Intramural Research Program, National Institute of Mental Health, National Institute of Health, Bethesda, MD 20852, USA (Yin Yao Shugart). Cancer Epidemiology Program, Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore MD 21205, USA (Timothy J. Jorgensen).

The views expressed in this presentation do not necessarily represent the views of the NIMH, NIH, HHS, or the United States Government.

Conflicts of Interest: None declared.

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  1. Department of Radiation Medicine, Georgetown University Medical Center, 3970 Reservoir Road, NW, TRB Room E220, Washington, DC, 20057, USA

    Timothy J. Jorgensen

  2. Unit of Statistical Genomics, Division of Intramural Research Programs, National Institute of Mental Health (NIMH)/NIH, Building 35; Room 3A-1006, Bethesda, MD, USA

    Hai-De Qin

  3. Unit of Statistical Genomics, Intramural Research, Program, National Institute of Mental Health, 35 Convent Drive, Room 3A1000, Bethesda, MD, 20892-3719, USA

    Yin Yao Shugart

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    Yin Yao Shugart

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Jorgensen, T.J., Qin, HD., Shugart, Y.Y. (2012). From Family Study to Population Study: A History of Genetic Mapping for Nasopharyngeal Carcinoma (NPC). In: Shugart, Y. (eds) Applied Computational Genomics. Translational Bioinformatics, vol 1. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-5558-1_4

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