Annotation of rs1799945

Allele G is associated with decreased dose of epoetin alfa in people with hemodialysis treatment as compared to allele C.

Required dosage to maintain a fixed hemoglobin target level was lower. Required iron dose was also lower in carriers, but not significantly. Please note: carriers of this mutation or the rs1800562 C282Y mutation were pooled together. The alleles were not specified in the study, however G allele corresponds to the H63D (CAT>GAT) loss of function mutation.

From Publication

HFE genotype influences erythropoiesis support requirement in hemodialysis patients: a prospective study. American journal of nephrology. 2008. Valenti Luca et al.
PMID:18025780(opens in new window) DOI:10.1159/000111387(opens in new window)

Gene

HFE

Variant

rs1799945

Phenotype Category

Dosage, Metabolism/PK

Association Significance

The study reports this association is significant

PharmGKB ID

769171145

Score
More info on scoring

1.75

Evidence for Clinical Annotations

This annotation has been used as evidence for the following clinical annotations.

    Study Parameters

    Study type

    prospective

    Study size

    96

    Association p-value

    = 0.01

    Biogeographical group
    More info on groups

    European

    Population description

    Disease: Undergoing hemodialysis treatment.

    Note: Alleles in PharmGKB are mapped to the positive chromosomal strand. Therefore, variants in genes on the "minus" strand (eg. VKORC1) are complemented in PharmGKB annotations.

    History

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