LongevityMap Gene

Gene details

HGNC symbol
HFE 
Aliases
HH; HFE1; HLA-H; MVCD7; TFQTL2 
Common name
hemochromatosis 
Description
The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
Cytogenetic Location
6p22.2
UCSC Genome Browser
View 6p22.2 on the UCSC genome browser
OMIM
613609
Ensembl
ENSG00000010704
UniProt/Swiss-Prot
B4DV50_HUMAN
Entrez Gene
3077
UniGene
233325
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
LOC556263
Mus musculus
Hfe
Rattus norvegicus
Hfe

Studies (5)

Significant/Non-significant: 2/3

Study 1

Longevity Association
Significant
Population
Italian (Sicily)
Study Design
C282Y, H63D and S65C polymorphisms were studied in 106 young controls (22 - 55 years; 40 men) and 35 elderly subjects (91 - 105 years; 7 men)
Conclusions
A significant difference (P = 7.2 Ɨ 10āˆ’7 by Fisher exact test) was observed only in women in frequencies of C282Y alleles between the young and the elderly subjects. Concerning H63D polymorphisms, no significant differences were observed, between old and young people.
Indentifier
C282Y
Reference

    Study 2

    Longevity Association
    Non-significant
    Population
    Italian (Sardinia)
    Study Design
    The C282Y, H63D and S65C SNPs were examined in 61 controls and 57 centenarians
    Conclusions
    Although there was a trend for an increased frequency of the H63D allele in centenarian women, no significant differences were observed in frequencies of the different alleles between young and centenarians
    Indentifier
    C282Y
    Reference

      Study 3

      Longevity Association
      Non-significant
      Population
      Danish, German, Dutch
      Study Design
      102 SNPs from 16 longevity candidate genes were examined in Danish. 1089 individuals (ages 92.2-93.8, mean age 93.2, 71.3 female) and 736 middle-aged controls (46-55 y, mean age 50.6, 49.6% female) were involved in this case-control study. Then the results were replicated in a German cohort of 1613 individuals (95-110 y, 73.2% female) and 1104 middle-aged controls (mean age 67.2, SD 4.07, 74.3% female). A 11 years study was introduced in Danish cohort to identify the SNPs associated with longevity, then the results were verified in Dutch longitudinal cohort.
      Conclusions
      After correcting for multiple testing, no SNPs were significantly associated with longevity, except in APOE and CETP. rs4343 (ACE) was nominally significantly associated with longevity (Pā€‰<ā€‰0.05).
      Indentifier
      rs1572982
      Reference

        Study 4

        Longevity Association
        Non-significant
        Population
        Italian (Sicily)
        Study Design
        C282Y, H63D and S65C polymorphisms were studied in 106 young controls (22 - 55 years; 40 men) and 35 elderly subjects (91 - 105 years; 7 men)
        Conclusions
        Concerning H63D polymorphisms, no significant differences were observed, between old and young people. S65C was not detected.
        Indentifier
        H63D
        Reference

          Study 5

          Longevity Association
          Significant
          Population
          Italian (Sicily)
          Study Design
          C282Y, H63D and S65C polymorphisms were studied in 106 young controls (age range from 22 to 55 years; 40 men and 66 women) and 35 elderly subjects (age range from 91 to 105 years; seven men and 28 women)
          Conclusions
          A significant difference was observed only in women in frequencies of C282Y alleles between the young and the elderly subjects. Concerning H63D polymorphisms, no significant differences were observed, between old and young people.
          Indentifier
          C282Y
          Reference