Genetics of sepsis and pneumonia

Purpose of review: The genetic risk for pneumonia, sepsis, and other serious infections is generally unrecognized or underestimated. Although the strongest evidence for a genetic risk comes from an adoptee study, most evidence for a genetic role in infection involves association studies, which compare the incidence of specific mutations in a population with infection to a control population. Recent association studies in pneumonia and sepsis will be reviewed. Recent findings: Most positive association studies examine genes for important inflammatory molecules such as tumor necrosis factor, the interleukin-1 family, interleukin-10, and angiotensin converting enzyme, as well as molecules important in antigen recognition, such as the mannose-binding lectin, CD-14, and toll-like receptors. Summary: A genetic component to risk of sepsis and resultant complications clearly exists. Confirmation of the findings in this review and associations with other genetic polymorphisms await large-scale population studies and further validation of the physiologic significance of the variant alleles.