Idiopathic haemochromatosis and HLA antigens in Italy: is A3 Bw35 HLA haplotype a marker for idiopathic haemochromatosis gene in north east regions?

Piperno, Alberto; Fargion, Silvia; Panaiotopoulos, Nikos; Ninno, E. Del; Taddei, M.T.; Fiorelli, G.

doi:10.1136/jcp.39.2.125

Cited by 16 publications

(15 citation statements)

References 4 publications

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“…Zacchi et al [3] recently reported the association of IH with A3,B35 in patients from Friuli. This finding was further suggested by Piperno et al [4] in patients from Veneto and Friuli. This unique association is con firmed by our study: the prevalence of A3,B35 was significantly higher in patients than in controls, and all haemochromatotic subjects carrying B35 also had A3.…”

Section: Hla Haplotypessupporting

confidence: 68%

“…It is worthwhile to note a lesser prevalence of B35 in our patients (0.44) compared to that reported by Piperno et al [4] in patients from both Veneto and Fri uli (0.75). The absence of cases from Friuli in our study might explain such a difference.…”

Section: Hla Antigenscontrasting

confidence: 51%

“…Exten sive studies have established a world-wide association of IH with HLA-A3 antigen, whereas associations with other HLA antigens have been reported only in some regions [2], Recent studies have confirmed this strong association with A3 in Italy, too, and have sug gested a peculiar association with A3,B35 haplotype in patients from Friuli [3][4][5].…”

mentioning

confidence: 83%

“…In Italy, three studies [3][4][5] confirmed the close as sociation with A3 and B7, too, but patients from Veneto-Friuli showed a high prevalence of B35.…”

Section: Hla Antigensmentioning

confidence: 99%

“…The absence of cases from Friuli in our study might explain such a difference. Population mi grations [2] could account for the intermediate preval ence of B35 in patients from Veneto as compared to neighbour regions: Friuli with a presumably high and Lombardia with a low prevalence of this antigen [4].…”

Section: Hla Antigensmentioning

confidence: 99%

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HLA Antigens and Haplotypes Associated with Idiopathic Haemochromatosis in Veneto: Peculiar Association with HLA-A3, B35

et al. 1990

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HLA-A and HLA-B antigens were determined in 16 unrelated subjects orginating from Veneto affected by idiopathic haemochromatosis (IH). HLA-A3 was found in 13/16 patients vs. 300/1,348 controls (p < 0.00005). Prevalences of A3, B35 haplotype were 0.4375 in patients vs. 0.0816 in controls (p < 0.0005). Linkage disequilibrium analysis proved the existence of a positive third-order linkage disequilibrium among IH, HLA-A3 and HLA-B35 alleles. Our data confirm the close association of IH and HLA-A3 and prove the peculiar association of the disease with A3, B35 haplotype in north-eastern regions of Italy. The positive third-order linkage disequilibrium suggests a remote event (mutation, recombination or immigration) as origin for IH and A3, B35 association.

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Section: Hla Haplotypessupporting

confidence: 68%

Section: Hla Antigenscontrasting

confidence: 51%

mentioning

confidence: 83%

“…In Italy, three studies [3][4][5] confirmed the close as sociation with A3 and B7, too, but patients from Veneto-Friuli showed a high prevalence of B35.…”

Section: Hla Antigensmentioning

confidence: 99%

Section: Hla Antigensmentioning

confidence: 99%

See 3 more Smart Citations

HLA Antigens and Haplotypes Associated with Idiopathic Haemochromatosis in Veneto: Peculiar Association with HLA-A3, B35

et al. 1990

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Frequencies of the Hereditary Hemochromatosis Allele in Different Populations. Comparison of Previous Phenotypic Methods and Novel Genotypic Methods

et al. 2003

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In most studies there was good agreement between the hemochromatosis allele frequencies determined by phenotypic and genotypic methods. A high ratio (northern Italy) may indicate that phenotypic selection criteria were too loose and/or that causes of iron overload other than the Cys282Tyr mutation are frequent in the region. A low ratio (in Finland) may indicate phenotypic selection criteria that were too stringent and/or a low penetration rate of the mutation.

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HFE gene: Structure, function, mutations, and associated iron abnormalities

Barton

Edwards

Acton

2015

Gene

117

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The hemochromatosis gene HFE was discovered in 1996, more than a century after clinical and pathologic manifestations of hemochromatosis were reported. Linked to the major histocompatibility complex (MHC) on chromosome 6p, HFE encodes the MHC class I-like protein HFE that binds beta-2 microglobulin. HFE influences iron absorption by modulating the expression of hepcidin, the main controller of iron metabolism. Common HFE mutations account for ~90% of hemochromatosis phenotypes in whites of western European descent. We review HFE mapping and cloning, structure, promoters and controllers, and coding region mutations, HFE protein structure, cell and tissue expression and function, mouse Hfe knockouts and knockins, and HFE mutations in other mammals with iron overload. We describe the pertinence of HFE and HFE to mechanisms of iron homeostasis, the origin and fixation of HFE polymorphisms in European and other populations, and the genetic and biochemical basis of HFE hemochromatosis and iron overload.

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Idiopathic haemochromatosis and HLA antigens in Italy: is A3 Bw35 HLA haplotype a marker for idiopathic haemochromatosis gene in north east regions?

Cited by 16 publications

References 4 publications

HLA Antigens and Haplotypes Associated with Idiopathic Haemochromatosis in Veneto: Peculiar Association with HLA-A3, B35

HLA Antigens and Haplotypes Associated with Idiopathic Haemochromatosis in Veneto: Peculiar Association with HLA-A3, B35

Frequencies of the Hereditary Hemochromatosis Allele in Different Populations. Comparison of Previous Phenotypic Methods and Novel Genotypic Methods

HFE gene: Structure, function, mutations, and associated iron abnormalities

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