HFE genotype and transferrin saturation in the United States.

Cogswell, Mary E; Gallagher, Margaret L; Steinberg, Karen K; Caudill PhD, Samuel P; Looker, Anne C; Bowman, Barbara A; Gunter, Elaine W; Franks, Adele L et al. · Genet Med · 2003

cross_sectional · Level IV

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Abstract

Examine the penetrance (defined by high transferrin saturation [TS]) of C282Y and H63D in the U.S. population. 5171 participants from the Third National Health and Nutrition Examination Survey, 1992 to 1994. 77.1% (95% confidence interval [CI], 2.3, 95.1) of men and 51.9% (95% CI, 0, 84.2) of women with C282Y homozygosity had high TS. The associations of H63D homozygosity with high TS were stronger in people aged 50 years or older than in younger persons. Among Mexican-Americans, simple H63D heterozygosity was associated with high TS. The associations between HFE genotype and high TS may vary by sex, age, and ethnic group.

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