CYBRD1 as a modifier gene that modulates iron phenotype in HFE p.C282Y homozygous patients.

ABSTRACT:

Background

Most patients with hereditary hemochromatosis in the Caucasian population are homozygous for the p.C282Y mutation in the HFE gene. The penetrance and expression of hereditary hemochromatosis differ largely among cases of homozygous p.C282Y. Genetic factors might be involved in addition to environmental factors.

Design and methods

In the present study, we analyzed 50 candidate genes involved in iron metabolism and evaluated the association between 214 single nucleotide polymorphisms in these genes and three phenotypic outcomes of iron overload (serum ferritin, iron removed and transferrin saturation) in a large group of 296 p.C282Y homozygous Italians. Polymorphisms were tested for genetic association with each single outcome using linear regression models adjusted

SUBMITTER: Pelucchi S 

PROVIDER: S-EPMC3590088 | biostudies-literature | 2012 Dec

REPOSITORIES: biostudies-literature