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August 11, 1999

Genetic Factors in Septic Shock

JAMA. 1999;282(6):579-581. doi:10.1001/jama.282.6.579

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