Frequency of the HFE C282Y and H63D mutations in distinct ethnic groups living in Spain.

Baiget, Montserrat; Barceló, Montserrat; Gimferrer, E

doi:10.1136/jmg.35.8.701

Cited by 36 publications

(21 citation statements)

References 2 publications

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“…The present paper shows such screening is feasible, using the same logistic approach as that used to diagnose other disorders in the newborn population in our country. The prevalence of C282Y mutation is similar to that first reported (Baiget et al, 1998) and subsequently confirmed in Catalan blood donors (Sanchez et al, 2003) and in newborns from southern France (Aguilar-Martinez et al, 2001), the Czech Republic (Cimburova et al, 2002), and some areas of Italy with inhabitants of northern European ancestry (Salvioni et al, 2003). Nevertheless, the allelic frequency of this mutation in Catalan newborns seems to be lower than that recorded for Caucasian newborns in the United States (Steinberg et al, 2001), Ireland (Byrnes et al, 2001), Canada (Girouard et al, 2002), Denmark (Merryweather-Clarke et al, 1999), northern Portugal and northern France (Jouanolle et al, 1998;Cardoso et al, 2001), but higher than that observed in Italy in general (Restagno et al, 2000) and southern Portugal (Cardoso et al, 2001).…”

Section: Discussionsupporting

confidence: 87%

Prevalence of the C282Y, H63D, and S65C Mutations of theHFEGene in 1,146 Newborns from a Region of Northern Spain

Altés

Ruiz

Barceló³

et al. 2004

Genetic Testing

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In Spain, 85% of patients with genetic hemochromatosis (GH) are homozygous for the C282Y mutation of the HFE gene. H63D and S65C mutations of HFE may also play some role in the disease. The aim of this study was to establish the prevalence of C282Y, H63D, and S65C mutations of the HFE gene in newborns in Catalonia, Spain. One thousand one hundred forty-six newborn screening cards were selected randomly. DNA from these cards was extracted and HFE mutations were analyzed with the LightCycler equipment (Roche Diagnostics Gmbh, Mannheim, Germany). Sufficient DNA sample was obtained to screen for the three mutations in 1,043 cases (91%). The allelic frequencies of C282Y, H63D, and S65C mutations were 0.03 (IC 95% 0.022-0.037), 0.2 (IC 95% 0.19-0.22), and 0.01 (95% confidence interval [CI] 0.006-0.015), respectively. The frequency of C282Y homozygous newborns was 0.001 (95% CI 0.0005-0.0014). The frequencies of newborns doubly heterozygous for C282Y/H63D and C282Y/S65C were 0.01 (95% CI 0.005-0.02) and 0.002 (95% CI 0.0002-0.01), respectively. The allelic frequency of C282Y mutation is similar to that observed in Southern France, in the Czech Republic and in some areas of Italy. The allelic frequency of H63D mutation in Catalonia is the highest reported to date. Nevertheless, S65C is infrequent. These data should be kept in mind when designing hemochromatosis genotypic screening programs in Catalonia.

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Section: Discussionsupporting

confidence: 87%

Prevalence of the C282Y, H63D, and S65C Mutations of theHFEGene in 1,146 Newborns from a Region of Northern Spain

Altés

Ruiz

Barceló³

et al. 2004

Genetic Testing

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“…Our findings are, however, in good accordance with the study from France showing that, compared to four other French populations, Basques have the lowest C282Y allele frequency [2]. In another paper, the frequencies of the C282Y and H63D mutations in Spanish Basques were reported to be 1.9% and 27.4%, respectively [3]. Interestingly, a worldwide screening found the highest H63D allele frequency in Basques from Spain (30.4%) [4].…”

Section: Discussionsupporting

confidence: 92%

“…In addition, we have chosen strict criteria to define Basques. It is noticeable that in the previous papers studying this people, this point was usually not well defined, which may open the published results [2,3,4] to criticism. Our findings are, however, in good accordance with the study from France showing that, compared to four other French populations, Basques have the lowest C282Y allele frequency [2].…”

Section: Discussionmentioning

confidence: 77%

“…Interestingly, a worldwide screening found the highest H63D allele frequency in Basques from Spain (30.4%) [4]. For Baiget et al [3], the frequency of H63D in Spanish blood donors varied between 16 and 22%. This relatively high prevalence prompted some authors to hypothesize that H63D originated in the Iberian peninsula [5].…”

Section: Discussionmentioning

confidence: 97%

“…It represents one of the most common inherited disorders among Northern Europeans. Since the recent identification by Feder et al [1] of the major genetic change linked to this trait, there has been great interest in the study of corresponding mutations in various geographic areas [2,3,4].…”

Section: Introductionmentioning

confidence: 99%

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Genetic hemochromatosis is a rare disease entity among French Basques: a center-based study from the General Hospital of Basque Country

Bauduer

Scribans

Renoux

et al. 2001

Annals of Hematology

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A center-based study from the general hospital of Basque country has been performed to evaluate the importance of genetic hemochromatosis among French Basques. A sample of 37 patients from 34 families fulfilling the diagnosis criteria of hemochromatosis was obtained. Only four of them were of Basque origin: two homozygotes for C282Y, one homozygote for H63D, and one heterozygote for C282Y. These results suggest a significant lower prevalence of genetic hemochromatosis in Basques than in people from other French regions (P=0.001). They underline further the biological specificity of this population.

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The evolutionary adaptation of the C282Y mutation to culture and climate during the European Neolithic

Heath

Axton

McCullough

et al. 2016

American J Phys Anthropol

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ObjectivesThe C282Y allele is the major cause of hemochromatosis as a result of excessive iron absorption. The mutation arose in continental Europe no earlier than 6,000 years ago, coinciding with the arrival of the Neolithic agricultural revolution. Here we hypothesize that this new Neolithic diet, which originated in the sunny warm and dry climates of the Middle East, was carried by migrating farmers into the chilly and damp environments of Europe where iron is a critical micronutrient for effective thermoregulation. We argue that the C282Y allele was an adaptation to this novel environment.Materials and MethodsTo address our hypothesis, we compiled C282Y allele frequencies, known Neolithic sites in Europe and climatic data on temperature and rainfall for statistical analysis.ResultsOur findings indicate that the geographic cline for C282Y frequency in Europe increases as average temperatures decrease below 16°C, a critical threshold for thermoregulation, with rainy days intensifying the trend.DiscussionThe results indicate that the deleterious C282Y allele, responsible for most cases of hemochromatosis, may have evolved as a selective advantage to culture and climate during the European Neolithic. Am J Phys Anthropol 160:86–101, 2016. © 2016 The Authors American Journal of Physical Anthropology Published by Wiley Periodicals, Inc.

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Frequency of the HFE C282Y and H63D mutations in distinct ethnic groups living in Spain.

Cited by 36 publications

References 2 publications

Prevalence of the C282Y, H63D, and S65C Mutations of theHFEGene in 1,146 Newborns from a Region of Northern Spain

Prevalence of the C282Y, H63D, and S65C Mutations of theHFEGene in 1,146 Newborns from a Region of Northern Spain

Genetic hemochromatosis is a rare disease entity among French Basques: a center-based study from the General Hospital of Basque Country

The evolutionary adaptation of the C282Y mutation to culture and climate during the European Neolithic

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