ArticleAmerican journal of human genetics1995
Haplotype analysis in Australian hemochromatosis patients: evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 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
16 citing papers in PubMed, 69 citations in OpenAlex.
- A Decreasing North-to-South Gradient ofGenes · 2026Article
- Article
- The ancestral haplotype markers HLA -A3 and B7 do not influence the likelihood of advanced hepatic fibrosis or cirrhosis in HFE hemochromatosis.Scientific reports · 2023Article
- HLA-A*03, the hemochromatosis ancestral haplotype, and phenotypes of referred hemochromatosis probands with HFE p.C282Y homozygosity.Hereditas · 2022Article
- Review
- Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis.Proceedings of the National Academy of Sciences of the United States of America · 2002Article
- The major histocompatibility complex-encoded HFE in iron homeostasis and immune function.Immunologic research · 2000Review
- The significance of the 187G (H63D) mutation in hemochromatosis.American journal of human genetics · 1997Article
- Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis.Journal of medical genetics · 1997Article
- Haplotype analysis of hemochromatosis: evaluation of different linkage-disequilibrium approaches and evolution of disease chromosomes.American journal of human genetics · 1997Article
- Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.American journal of human genetics · 1997Article
- Recombinations defining centromeric and telomeric borders for the hereditary haemochromatosis locus.Journal of medical genetics · 1997Article
- Allelic association of microsatellites of 6p in Italian hemochromatosis patients.Human genetics · 1996Article
- A new highly polymorphic marker in the 5' untranslated region of HLA-F shows strong allelic association with haemochromatosis.Human genetics · 1996Article
- A region of primer binding variation at the D6S265 locus associated with HLA-A25 and HLA-A26 antigens.Human genetics · 1995Article
- Evidence that the ancestral haplotype in Australian hemochromatosis patients may be associated with a common mutation in the gene.American journal of human genetics · 1995Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hemochromatosis (HC), an inherited disorder of iron metabolism, shows a very strong founder effect in Australia, with the majority of patients being of Celtic (Scots/Irish) origin. Australian HC patients thus provide an ideal group in which to examine HC-gene-region haplotypes, to analyze the extent of linkage disequilibrium and genetic heterogeneity in HC. We have analyzed chromosomes from 26 multiply affected HC pedigrees, and we were able to assign HC status unambiguously to 107 chromosomes--64 as affected and 43 as unaffected. The haplotypes examined comprise the following highly polymorphic markers: the serological marker HLA-A and the microsatellites D6S248, D6S265, HLA-F, and D6S105. All show highly significant allelic association with HC and no evidence of separation from the disease locus by recombination. Analysis identified a predominant ancestral haplotype comprising alleles 5-1-3-2-8 (marker order: D6S248-D6S265-HLA-A-HLA-F-D6S105), present in 21 (33%) of 64 affected chromosomes, and exclusively associated with HC (haplotype relative risk 903). No other common haplotype was significantly associated with HC. Haplotype analysis in Australian HC patients thus provides strong evidence for (a) the introduction of HC into this population on an ancestral haplotype, (b) a common mutation associated with HC in Australian patients, and (c) a candidate HC-gene region extending between and including D6S248 and D6S105.
Indexed as
Identifiers
7847378PMC1801135W1571314764What 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.