The study of the genetic basis of disease is a rapidly emerging field
of medicine that has the potential to revolutionize both disease diagnostics
and therapeutics. The first step in that process requires defining the contribution
of specific genes to specific human diseases. The role of specific genes in
predisposition to various chronic human metabolic, degenerative, oncologic,
and autoimmune diseases has been accepted for decades. Well-known examples
include cystic fibrosis, Parkinson disease, and Wilms tumor among many others.
Alzheimer disease,1 diabetes mellitus,2 and systemic lupus erythematosus3
represent examples of other diseases that have less well-known associations
with specific gene variations or genetic polymorphisms. Recently, a markedly
increased risk of breast cancer has been demonstrated in women with an aberrant
tumor-suppressor gene (BRCA1 and BRCA2)4 while human immunodeficiency
virus (HIV) resistance has been linked to a variant of a gene coding for a
surface membrane receptor used by the HIV virus (CCR5).5
Kumar A, Short J, Parrillo JE. Genetic Factors in Septic Shock. JAMA. 1999;282(6):579–581. doi:10.1001/jama.282.6.579
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