Prevalence of the C282Y mutation for haemochromatosis on the Island of Majorca

Guix, P; Picornell, A.; M, Parera; Tomàs, Carmen; Muncunill, Josep; Castro, José A.; Rossell, J; Vaquer, P; Ramon, Meike; Obrador, Antoni

doi:10.1034/j.1399-0004.2000.580206.x

Cited by 11 publications

(5 citation statements)

References 34 publications

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“…The analysis is based on recently published frequencies of the C282Y mutation of the HFE gene in European populations and population subgroups. We have preferably included studies comprising at least 100 individuals (12–68).…”

Section: Methodsmentioning

confidence: 99%

Evidence that the Cys282Tyr mutation of the HFE gene originated from a population in Southern Scandinavia and spread with the Vikings

Milman

Pedersen

2003

Clinical Genetics

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Hereditary hemochromatosis has been recognized as a clinical disorder for more than 100 years. The common form of the disorder is caused by the Cys282Tyr mutation (C282Y) of the HFE gene. Hereditary hemochromatosis affects predominantly people of Northern European origin. The C282Y mutation probably occurred on a single chromosome carrying the ancestral hemochromatosis haplotype, which subsequently was spread by emigration and the founder effect. It has been estimated that the C282Y mutation appeared 60-70 generations ago. It was initially suggested that the ancestral C282Y mutation occurred within the Celtic group of peoples. However, we hypothesize that the distribution of the C282Y mutation in Europe is more consistent with an origin among the Germanic Iron Age population in Southern Scandinavia. From this area, the mutation could later be spread by the migratory activities of the Vikings. The aim of the present study was to evaluate the validity of these two hypotheses. Several arguments are in favor of the 'Viking hypothesis': first, the highest frequencies (5.1-9.7%) of the C282Y mutation are observed in populations in the Northern part of Europe, i.e. Denmark, Norway, Sweden, Faeroe Islands, Iceland, Eastern part of England (Danelaw) and the Dublin area, all Viking homelands and settlements. Second, the highest allele frequencies are reported among populations living along the coastlines. Third, the frequencies of the C282Y mutation decline from Northern to Southern Europe. Intermediate allele frequencies (3.1-4.8%) are seen in the populations in Central Europe, which is the original Celtic homeland. Low allele frequencies (0-3.1%) are recognized in populations in Southern Europe and the Mediterranean.

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Section: Methodsmentioning

confidence: 99%

Evidence that the Cys282Tyr mutation of the HFE gene originated from a population in Southern Scandinavia and spread with the Vikings

Milman

Pedersen

2003

Clinical Genetics

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“…Among other HFE mutations, which have been identified in isolated HHC patients, a serine to cysteine substitution at amino acid 65 (S65C) seems most common and associated with mild HHC (3). Extensive epidemiological studies have shown, a high prevalence of the C282Y mutation in northern European populations (4–6), whereas lower mutation frequencies were detected in different populations from southern Europe (7–9). However, no HFE mutation prevalence data have been published on the Croatian and Slovenian populations.…”

Section: Distribution Of Genotype Frequencies In Croatian and Slovenementioning

confidence: 99%

Hemochromatosis gene mutations in the Croatian and Slovenian populations

Ristić¹,

Makuc²,

Starčević³

et al. 2003

Clinical Genetics

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“…The purpose of our study was to determine the prevalence of the C282Y and H63D mutations in the HFE gene in four populations from the Balearic Archipelago, as well as in a group of patients. The distribution of the C282Y mutation has been widely studied in European populations (11) and a northwest to southeast cline has been described (13, 14). The prevalence of the C282Y mutations in Majorca and Ibiza was in the expected range according to their geographic situation in Europe (13, 14), whereas it was lower than expected in Minorca and was not found in the descendants of Majorcan Jews.…”

Section: Discussionmentioning

confidence: 99%

“…These laboratories collect samples from all the towns and villages of the three islands, which together have a population of approximately 800 000 inhabitants. One part of the sample (Majorcan individuals), formed the basis of an initial study of C282Y mutation on the island of Majorca (14). The DNAs of the Chueta population belonged to the collection of the Genetics Laboratory, University of the Balearic Islands (16).…”

Section: Methodsmentioning

confidence: 99%

“…The previous results for the C282Y mutation on the island of Majorca (14) led to the necessity to complete the study for the C282Y and H63D mutations on three islands of the Balearic Archipelago (Majorca, Minorca and Ibiza), located in the western Mediterranean Sea, as well as in a group comprised of the descendants of Majorcan Jews (Chuetas). The origin of the Chuetas can be traced back to the Sephardic communities that lived during the Spanish Diaspora.…”

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confidence: 99%

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Distribution of HFE C282Y and H63D mutations in the Balearic Islands (NE Spain)

Guix

Picornell

et al. 2002

Clinical Genetics

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The HFE gene contains two main missense mutations: C282Y and H63D. Individuals with these mutations carry a risk of developing hereditary haemochromatosis (HH). The common form of this disease is due to homozygosity for the C282Y mutation. Population studies have shown the variation of the prevalence of these mutations in different countries and ethnic groups. The purposes of this current study were to determine the prevalence of the C282Y and H63D mutations in the Balearic Islands and the genotypic characterization of patients diagnosed with HH, as well as those with iron overload and liver diseases. A total of 1330 Balearic chromosomes were analyzed. The results showed that the populations of the Balearic Islands were not homogeneous. No C282Y carriers were observed in a group of descendants of Majorcan Jews (Chuetas) and the frequency was very low in Minorca (1.2%) in comparison with the other islands of Majorca (4.7%) and Ibiza (6.5%). The carrier frequency of the H63D mutation was similar in the three islands and very high (43.1%) in the descendants of Majorcan Jews. The study of patients was carried out in 129 individuals. The homozygous C282Y genotype was the principal one involved in hereditary haemochromatosis (90%), whereas the other HH patients were C282Y/H63D compound heterozygous and H63D homozygous.

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Prevalence of the C282Y mutation for haemochromatosis on the Island of Majorca

Cited by 11 publications

References 34 publications

Evidence that the Cys282Tyr mutation of the HFE gene originated from a population in Southern Scandinavia and spread with the Vikings

Evidence that the Cys282Tyr mutation of the HFE gene originated from a population in Southern Scandinavia and spread with the Vikings

Hemochromatosis gene mutations in the Croatian and Slovenian populations

Distribution of HFE C282Y and H63D mutations in the Balearic Islands (NE Spain)

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