ArticleGenetics2002
Sequence variation and haplotype structure at the human HFE locus.
Article in Genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 49 citations in OpenAlex.
- Genetics of HIV-associated sensory neuropathy and related pain in Africans.Journal of neurovirology · 2017Review
- Article
- Haplotype analysis of the HFE gene among populations of Northern Eurasia, in patients with metabolic disorders or stomach cancer, and in long-lived people.BMC genetics · 2016Article
- Signatures of Evolutionary Adaptation in Quantitative Trait Loci Influencing Trace Element Homeostasis in Liver.Molecular biology and evolution · 2016Article
- Natural selection on HFE in Asian populations contributes to enhanced non-heme iron absorption.BMC genetics · 2015Article
- Expression analysis, single nucleotide polymorphisms and combined genotypes in candidate genes and their associations with growth and carcass traits in Qinchuan cattle.Molecular biology reports · 2013Article
- Human genomic disease variants: a neutral evolutionary explanation.Genome research · 2012Review
- Allelic polymorphism detected in the bovine FTO gene.Molecular biotechnology · 2011Article
- Recent advances in understanding the role of nutrition in human genome evolution.Advances in nutrition (Bethesda, Md.) · 2011Review
- Evidence for hitchhiking of deleterious mutations within the human genome.PLoS genetics · 2011Article
- SNP discovery and haplotype analysis in the bovine PRKAA2 gene.Molecular biology reports · 2011Article
- Genome-wide scans for footprints of natural selection.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2010Review
- Single nucleotide polymorphisms and haplotypic diversity in the bovine PRKAB1 gene.Molecular biotechnology · 2009Article
- Genetic and epigenetic contributions to human nutrition and health: managing genome-diet interactions.Journal of the American Dietetic Association · 2008Review
- A map of recent positive selection in the human genome.PLoS biology · 2006Article
- Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes.American journal of human genetics · 2006Article
- Article
- Article
- Natural selection and population history in the human angiotensinogen gene (AGT): 736 complete AGT sequences in chromosomes from around the world.American journal of human genetics · 2004Article
- Genetic variation and pharmacogenomics: concepts, facts, and challenges.Dialogues in clinical neuroscience · 2004Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
The HFE locus encodes an HLA class-I-type protein important in iron regulation and segregates replacement mutations that give rise to the most common form of genetic hemochromatosis. The high frequency of one disease-associated mutation, C282Y, and the nature of this disease have led some to suggest a selective advantage for this mutation. To investigate the context in which this mutation arose and gain a better understanding of HFE genetic variation, we surveyed nucleotide variability in 11.2 kb encompassing the HFE locus and experimentally determined haplotypes. We fully resequenced 60 chromosomes of African, Asian, or European ancestry as well as one chimpanzee, revealing 41 variable sites and a nucleotide diversity of 0.08%. This indicates that linkage to the HLA region has not substantially increased the level of HFE variation. Although several haplotypes are shared between populations, one haplotype predominates in Asia but is nearly absent elsewhere, causing higher than average genetic differentiation among the three major populations. Our samples show evidence of intragenic recombination, so the scarcity of recombination events within the C282Y allele class is consistent with selection increasing the frequency of a young allele. Otherwise, the pattern of variability in this region does not clearly indicate the action of positive selection at this or linked loci.
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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.