ABSTRACT
The DNA sequence data provided by the Human Genome Project offer great promise in
the prevention and treatment of lung disease in the new millennium. Making sense of
these data with regard to how they relate to disease susceptibility and progression
will require new and innovative genetic epidemiological approaches. Although tried
and true methodologies such as case-control comparisons are still useful, a better
understanding of genotype-phenotype relationships in lung disease can be gained by
comparisons across similar diseases, such as the HLA-DPB1 associations observed in
both berylliosis and sarcoidosis. Study of gene-environment and gene-gene interactions
in lung disease is critical to the understanding of pathogenic processes in the lung
such as localized inflammation and malignant transformation. Oligonucleotide microarray
studies of gene expression in the lung are well under way and promise to uncover numerous
previously unknown genetic factors involved in lung pathogenesis. One of the greatest
challenges facing genetic epidemiologists studying lung disease in the new millennium
will be how to translate the myriad results from microarray and similar data-driven
technologies into information useful to the medicine practiced in pulmonary clinics.
KEYWORDS
Genotype - haplotype - environment - oligonucleotide array sequence analysis