ArticleBritish journal of haematology2009
A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis.
Article in British journal of haematology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
29 citing papers in PubMed, 65 citations in OpenAlex.
- Genetic factors associated with iron storage in Australian blood donors.Blood transfusion = Trasfusione del sangue · 2018Trial
- Polymorphisms Related to Iron Homeostasis Associate with Liver Disease in Chronic Hepatitis C.Viruses · 2023Article
- Ethnic Differences in Iron Status.Advances in nutrition (Bethesda, Md.) · 2021Review
- Revisiting hemochromatosis: geneticAnnals of translational medicine · 2021Review
- Article
- Inherited iron overload disorders.Translational gastroenterology and hepatology · 2020Review
- GutSelf: Interindividual Variability in the Processing of Dietary Compounds by the Human Gastrointestinal Tract.Molecular nutrition & food research · 2019Review
- Identification of an iron-responsive subtype in two children diagnosed with relapsing-remitting multiple sclerosis using whole exome sequencing.Molecular genetics and metabolism reports · 2019Article
- Associations of TF Gene Polymorphisms with the Risk of Ischemic Stroke.Journal of molecular neuroscience : MN · 2018Article
- Association of mRNA expression of iron metabolism-associated genes and progression of non-alcoholic steatohepatitis in rats.Oncotarget · 2018Article
- Haemochromatosis.Nature reviews. Disease primers · 2018Review
- Signatures of Evolutionary Adaptation in Quantitative Trait Loci Influencing Trace Element Homeostasis in Liver.Molecular biology and evolution · 2016Article
- Review
- Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload.Hepatology (Baltimore, Md.) · 2015Article
- Duodenal cytochrome b (DCYTB) in iron metabolism: an update on function and regulation.Nutrients · 2015Review
- Genome-wide association study identifies variants in PMS1 associated with serum ferritin in a Chinese population.PloS one · 2014Article
- Epistasis in iron metabolism: complex interactions between Cp, Mon1a, and Slc40a1 loci and tissue iron in mice.Mammalian genome : official journal of the International Mammalian Genome Society · 2013Article
- Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Human genetics · 2013Review
- Review
- Polymorphisms in iron homeostasis genes and urinary cadmium concentrations among nonsmoking women in Argentina and Bangladesh.Environmental health perspectives · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
21 authors at 10 institutions in 3 countries.
Funding
Abstract
There is emerging evidence that there are genetic modifiers of iron indices for HFE gene mutation carriers at risk of hereditary hemochromatosis. A random sample, stratified by HFE genotype, of 863 from a cohort of 31 192 people of northern European descent provided blood samples for genotyping of 476 single nucleotide polymorphisms (SNPs) in 44 genes involved in iron metabolism. Single SNP association testing, using linear regression models adjusted for sex, menopause and HFE genotype, was conducted for four continuously distributed outcomes: serum ferritin (log transformed), transferrin saturation, serum transferrin, and serum iron. The SNP rs884409 in CYBRD1 is a novel modifier specific to HFE C282Y homozygotes. Median unadjusted serum ferritin concentration decreased from 1194 microg/l (N = 27) to 387 microg/l (N = 16) for male C282Y homozygotes and from 357 microg/l (N = 42) to 69 microg/l (N = 12) for females, comparing those with no copies to those with one copy of rs884409. Functional testing of this CYBRD1 promoter polymorphism using a heterologous expression assay resulted in a 30% decrease in basal promoter activity relative to the common genotype (P = 0.004). This putative genetic modifier of iron overload expression accounts for 11% (95% CI 0.4%, 22.6%) of the variance in serum ferritin levels of C282Y homozygotes.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.