The aim of this epidemiologic population survey was to assess the penetrance of the most frequent @entity9595 ( @entity14398 ) gene variants in ethnic Danish @entity1 . A cohort of 6,020 @entity1 aged 30-53 years was screened for @entity14398 @entity14399 , @entity14397 , and @entity31397 variants by restriction fragment length polymorphism analysis. Subsequently, @entity68 status markers (serum @entity69 saturation, serum ferritin) were analyzed in 1,452 @entity1 . The @entity14399 allele was present in 5.6%, @entity14397 in 12.8%, and @entity31397 in 1.8% of the @entity1 . We found 23 out of 6,020 (0.38%) @entity14399 homozygotes, of whom two had been treated with phlebotomy. Among untreated @entity14399 homozygotes (n = 21) with available @entity68 status markers ( @entity69 saturation n = 18, ferritin n = 16), 89% had elevated @entity69 saturation >or=50%, 94% had elevated ferritin >or=300 microg/L, and 88% had elevation of both @entity68 status markers; seven out of 16 (44%) had ferritin values >800 microg/L. One @entity14399 homozygote had normal @entity68 status markers possibly due to nonexpressivity. Among @entity14399 / @entity14397 compound heterozygotes (n = 66), 23% had elevated @entity69 saturation, 27% elevated ferritin, and 9% elevation of both @entity68 status markers. Among @entity14397 / @entity14397 homozygotes (n = 74), 15% had elevated @entity69 saturation, 19% elevated ferritin, and 5.4% elevation of both @entity68 status markers. Among @entity14399 /wild type (wt) heterozygotes (n = 255), 9% had elevated @entity69 saturation, 9% elevated ferritin, and 1.2% elevation of both @entity68 status markers. Among @entity14397 /wt heterozygotes (n = 600), 8% had elevated @entity69 saturation, 12% elevated ferritin, and 2% elevation of both @entity68 status markers. None of the @entity1 with the @entity31397 variant displayed elevation of both @entity68 status markers. In conclusion, this study demonstrates a high penetrance of the @entity14399 variant in Danish @entity1 followed by the @entity14397 variant while the @entity70533 variant had no significant impact on @entity68 status markers.

Genetic screening for @entity14398 @entity9595 in 6,020 Danish XXXX : penetrance of @entity14399 , @entity14397 , and @entity31397 variants.

@entity1 :: ('9606', 'Species') :: ['men'] @entity14398 :: ('3077', 'Gene') :: ['HFE'] @entity70533 :: ('p|SUB|S|65|D', 'ProteinMutation') :: ['S65D'] @entity68 :: ('MESH:D007501', 'Chemical') :: ['iron'] @entity69 :: ('7018', 'Gene') :: ['transferrin'] @entity14397 :: ('p|SUB|H|63|D', 'ProteinMutation') :: ['H63D'] @entity14399 :: ('p|SUB|C|282|Y', 'ProteinMutation') :: ['C282Y'] @entity9595 :: ('MESH:D006432', 'Disease') :: ['hemochromatosis'] @entity31397 :: ('p|SUB|S|65|C', 'ProteinMutation') :: ['S65C']
@entity1 :: (9606,Species) :: ['men']
