Alpha-1-antitrypsin deficiency and smoking as risk factors for mismatch repair deficient colorectal cancer: a study from the colon cancer family registry

Mol Genet Metab. 2010 Feb;99(2):157-9. doi: 10.1016/j.ymgme.2009.09.010. Epub 2009 Sep 27.

Abstract

In a previous study, alpha-1-antitrypsin (A1AT) deficiency alleles were found to be over represented among individuals with microsatellite unstable (MSI-high) colorectal cancers, and this was most significant in former or current smokers. We evaluated this association in a larger case-control study, stratified by microsatellite instability phenotypes. Concordant with prior observations, gender (female) and smoking history were positively associated with colorectal cancers having an MSI-high phenotype. No difference in frequency of A1AT deficiency alleles was found between cases and controls, irrespective of the MSI subtype.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Case-Control Studies
  • Colonic Neoplasms / complications*
  • Colonic Neoplasms / genetics*
  • Colonic Neoplasms / pathology
  • DNA Mismatch Repair*
  • Family
  • Female
  • Humans
  • Immunohistochemistry
  • Male
  • Middle Aged
  • Odds Ratio
  • Registries*
  • Risk Factors
  • Smoking / adverse effects*
  • alpha 1-Antitrypsin Deficiency / complications*
  • alpha 1-Antitrypsin Deficiency / pathology