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    Gene-environment interactions in sarcoidosis

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    Author
    Culver, Daniel A.; Newman, Lee S.; Kavuru, Mani S.
    Abstract
    Susceptibility to most human diseases is polygenic, with complex interactions between functional polymorphisms of single genes governing disease incidence, phenotype, or both. In this context, the contribution of any discrete gene is generally modest for a single individual, but may confer substantial attributable risk on a population level. Environmental exposure can modify the effects of a polymorphism, either by providing a necessary substrate for development of human disease or because the effects of a given exposure modulate the effects of the gene. In several diseases, genetic polymorphisms have been shown to be context-dependent, i.e. the effects of a genetic variant are realized only in the setting of a relevant exposure. Since sarcoidosis susceptibility is dependent on both genetic and environmental modifiers, the study of gene-environment interactions may yield important pathogenetic information and will likely be crucial for uncovering the range of genetic susceptibility loci. However, the complexity of these relationships implies that investigations of geneenvironment interactions will require the study of large cohorts with carefully-defined exposures and similar clinical phenotypes. A general principle is that the study of gene-environment interactions requires a sample size at least several-fold greater than for either factor alone. To date, the presence of environmental modifiers has been demonstrated for one sarcoidosis susceptibility locus, HLADQB1, in African-American families. This article reviews general considerations obtaining for the study of gene-environment interactions in sarcoidosis. It also describes the limited current understanding of the role of environmental influences on sarcoidosis susceptibility genes. Originally published Clinics in Dermatology, Vol. 25, No. 3, May-June 2007
    URI
    http://hdl.handle.net/10342/3449
    Subject
     Polymorphism; Sarcoidosis; Gene-environment interactions 
    Date
    2007-05
    Citation:
    APA:
    Culver, Daniel A., & Newman, Lee S., & Kavuru, Mani S.. (May 2007). Gene-environment interactions in sarcoidosis. Clinics in Dermatology, (25:3), p.267-275. Retrieved from http://hdl.handle.net/10342/3449

    Display/Hide MLA, Chicago and APA citation formats.

    MLA:
    Culver, Daniel A., and Newman, Lee S., and Kavuru, Mani S.. "Gene-environment interactions in sarcoidosis". Clinics in Dermatology. 25:3. (267-275.), May 2007. March 04, 2021. http://hdl.handle.net/10342/3449.
    Chicago:
    Culver, Daniel A. and Newman, Lee S. and Kavuru, Mani S., "Gene-environment interactions in sarcoidosis," Clinics in Dermatology 25, no. 3 (May 2007), http://hdl.handle.net/10342/3449 (accessed March 04, 2021).
    AMA:
    Culver, Daniel A., Newman, Lee S., Kavuru, Mani S.. Gene-environment interactions in sarcoidosis. Clinics in Dermatology. May 2007; 25(3) 267-275. http://hdl.handle.net/10342/3449. Accessed March 04, 2021.
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    • Pulmonary , Critical Care, and Sleep Medicine
    Publisher
    East Carolina University

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