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Gene-Environment Interaction and Disease Pathogenesis: Translational Studies

Environmental Genetics

Interaction between oxidant exposure and polymorphisms in antioxidant and proinflammatory genes determine the development of coal worker's pneumoconiciosis

Interaction between genetic background and environmental stimuli in the pathogenesis of human lung disease has been largely unexplored. In this program, the Environmental Genetics Group began a number of research initiatives that evolved from the mouse modeling to investigation in human populations. The group intends to understand the interaction between genetic factors and exposure to oxidants in the pathogenesis of bronchopulmonary dysplasia (BPD) and retinopathy of prematurity (ROP) in very low birth weight (VLBW) infants. As part of the Director’s Challenge Program Mechanisms of Oxidative Stress-Induced Disease, the group has designed an investigation to identify genetic factors that predispose some mouse strains to BPD and ROP which will then be tested in a cohort of VLBW infants. The infants are being recruited in Argentina under the direction of Fernando Polack, M.D., of the Johns Hopkins Bloomberg School of Public Health and the INFANT Foundation in Buenos Aires.

In another project, the group collaborated with Francine Kauffmann, Ph.D., and Rachel Nadif, Ph.D., from INSERM, Paris, France, to investigate the genetic basis of susceptibility to coal workers’ pneumoconiosis (CWP) in individuals differentially exposed to environmental oxidants coal dust and cigarette smoke (see figure below).

A long-standing research collaboration with Tim Lightfoot, Ph.D., and Mike Turner, Ph.D., of UNC-Charlotte has developed to investigate the genetic influence on exercise endurance and the interaction of age and activity levels in inbred mice. Results from these investigations will be tested in human volunteers and in population-based studies.

Ongoing Projects in the Laboratory:

  • Mechanisms of gene by environment interaction and the pathogenesis of occupational diseases (e.g. coal worker’s pneumoconiosis, latex allergy)
  • Genetic susceptibility to BPD and ROP in mouse and VLBW infants
  • Genetic influence on exercise endurance and age-related activity levels

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Last Reviewed: January 05, 2007