Hemochromatosis gene mutations and distal adenomatous colorectal polyps

Katherine A. McGlynn, Lori C. Sakoda, Ying Hu, Robert E. Schoen, Robert S. Bresalier, Meredith Yeager, Stephen Chanock, Richard B. Hayes, Kenneth H. Buetow

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


Iron has been suggested to be a risk factor for colorectal neoplasia. Some individuals who are heterozygous for mutations in the hemochromatosis gene (HFE) have higher than average serologic measures of iron. We therefore investigated whether heterozygosity for HFE mutations was related to risk of advanced distal adenoma and whether the relationship was affected by dietary iron intake. In the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial, 679 persons with advanced distal adenoma and 697 control persons were genotyped for the two major HFE mutations (C282Y and H63D), one HFE polymorphism (IVS2+4), and one polymorphism (G142S) in the transferrin receptor gene (TFRC). HFE haplotypes were also created to examine the effect of haplotype on risk. Food frequency questionnaire data were used to estimate daily iron intake. There was no relationship between any HFE genotype or haplotype and advanced adenoma. Stratification of HFE genotype by TFRC genotype did not change the results. In addition, there was no relationship between dietary iron intake and risk of adenoma or between HFE genotype and risk of adenoma, stratified by iron intake. These results do not support a relationship between HFE heterozygosity and risk of advanced distal adenoma.

Original languageEnglish (US)
Pages (from-to)158-163
Number of pages6
JournalCancer Epidemiology Biomarkers and Prevention
Issue number1
StatePublished - Jan 2005
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)


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