ArticleBlood cells, molecules & diseases2017
GNPAT p.D519G is independently associated with markedly increased iron stores in HFE p.C282Y homozygotes.
Article in Blood cells, molecules & diseases, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
8 citing papers in PubMed, 14 citations in OpenAlex.
- Pathogenesis, Diagnosis, and Clinical Implications of Hereditary Hemochromatosis-The Cardiological Point of View.Diagnostics (Basel, Switzerland) · 2021Review
- Revisiting hemochromatosis: geneticAnnals of translational medicine · 2021Review
- Article
- Increased frequency of GNPAT p.D519G in compound HFE p.C282Y/p.H63D heterozygotes with elevated serum ferritin levels.Blood cells, molecules & diseases · 2020Article
- Dysregulated hepcidin response to dietary iron in male mice with reduced Gnpat expression.Bioscience reports · 2020Article
- Gnpat does not play an essential role in systemic iron homeostasis in murine model.Journal of cellular and molecular medicine · 2020Article
- Inherited iron overload disorders.Translational gastroenterology and hepatology · 2020Review
- Haemochromatosis.Nature reviews. Disease primers · 2018Review
Corrections and comments
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Authors and funding
15 authors at 12 institutions in 3 countries.
Funding
Abstract
backgroundGNPAT p.D519G positivity is significantly increased in HFE p.C282Y homozygotes with markedly increased iron stores. We sought to determine associations of p.D519G and iron-related variables with iron stores in p.C282Y homozygotes.
methodsWe defined markedly increased iron stores as serum ferritin >2247pmol/L (>1000μg/L) and either hepatic iron >236μmol/g dry weight or iron >10g by induction phlebotomy (men and women). We defined normal or mildly elevated iron stores as serum ferritin <674.1pmol/L (<300μg/L) or either age≥40y with iron ≤2.5g iron by induction phlebotomy or age≥50y with ≤3.0g iron by induction phlebotomy (men only). We compared participant subgroups using univariate methods. Using multivariable logistic regression, we evaluated associations of markedly increased iron stores with these variables: age; iron supplement use (dichotomous); whole blood units donated; erythrocyte units received as transfusion; daily alcohol consumption, g; and p.D519G positivity (heterozygosity or homozygosity).
resultsThe mean age of 56 participants (94.6% men) was 55±10 (SD) y; 41 had markedly increased iron stores. Prevalences of swollen/tender 2nd/3rd metacarpophalangeal joints and elevated aspartate or alanine aminotransferase were significantly greater in participants with markedly increased iron stores. Only participants with markedly increased iron stores had cirrhosis. In multivariable analyses, p.D519G positivity was the only exposure variable significantly associated with markedly increased iron stores (odds ratio 9.9, 95% CI [1.6, 60.3], p=0.0126).
conclusionsGNPAT p.D519G is strongly associated with markedly increased iron stores in p.C282Y homozygotes after correction for age, iron-related variables, and alcohol consumption.
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