DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Hereditary hemochromatosis-related traits (HFE mutation homozygotes). The EFO term hereditary hemochromatosis, serum iron measurement was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: hereditary hemochromatosis, serum iron measurement

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

M de Tayrac, MP Roth, AM Jouanolle, H Coppin, G le Gac, A Piperno, C Férec, S Pelucchi, V Scotet, E Bardou-Jacquet, M Ropert, R Bouvet, E Génin, J Mosser, Y Deugnier

TITLE:

Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis.

JOURNAL:

Journal of hepatology Mar 2015, Vol 62, pp. 664-72

ABSTRACT:

Hereditary hemochromatosis (HH) is the most common form of genetic iron loading disease. It is mainly related to the homozygous C282Y/C282Y mutation in the HFE gene that is, however, a necessary but not a sufficient condition to develop clinical and even biochemical HH. This suggests that modifier genes are likely involved in the expressivity of the disease. Our aim was to identify such modifier genes. PUBMED: 25457201
Find other GeneSets from this publication