Journal Article

Issues with Polymorphism Analysis in Sepsis

Ainsley M. Sutherland and James A. Russell

in Clinical Infectious Diseases

Published on behalf of Infectious Diseases Society of America

Volume 41, issue Supplement_7, pages S396-S402
Published in print November 2005 | ISSN: 1058-4838
Published online November 2005 | e-ISSN: 1537-6591 | DOI:
Issues with Polymorphism Analysis in Sepsis

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Genetic variation has been shown to play a large role in determining susceptibility to and outcome of such complex diseases as sepsis. There is a much higher heritability of death due to infection than death due to cancer or heart disease. More than 8 million single nucleotide polymorphisms (SNPs) have been detected in the human genome and there is very little understanding of their effect on gene expression and protein function. The use of haplotypes, which are inherited sets of linked SNPs, as the unit of genetic variation in association studies and the marking of these haplotypes with unique“tagSNPs” may help to narrow down the search for causal SNPs. Future studies must be large (thousands of patients) and must be carefully designed to avoid false associations resulting from ethnic differences in genotype frequencies and disease prevalence in order to find true, reproducible associations between genotype and phenotype. Functional studies and careful characterization of intermediate phenotypes must be done to lend biological plausibility to genotype-phenotype associations. Examination of the association between genetic polymorphisms and sepsis promises to provide clinicians with new tools to evaluate prognosis, to intervene early and aggressively intresting high-risk persons, and to avoid the use of therapies with adverse effects in treating low-risk persons.

Journal Article.  5192 words.  Illustrated.

Subjects: Infectious Diseases ; Immunology ; Public Health and Epidemiology ; Microbiology

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