Prevalence of HFE (hemochromatosis) gene mutations C282Y and H63D in a Romanian population

Voicu, Pia-Manuela; Cojocariu, Camelia; Petrescu-Danila, Elena; Covic, M; Stanciu, Catalina-Andreea; Rusu, Marius Emil

doi:10.1016/j.bcmd.2008.08.004

Cited by 8 publications

(4 citation statements)

References 8 publications

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“…The highest frequency is observed in Ireland (11.4%) and in the eastern part of England (8.2%), and a slightly lower frequency in Norway, Sweden, Denmark, and Iceland. The lowest reported frequencies (0-1.75%) of the C282Y mutation were observed in Greece, Romania, and Bulgaria (Merryweather-Clarke et al, 1997;Ivanova et al, 1999;Voicu et al, 2009). These data support the hypothesis of gene flow from north to south of Europe.…”

Section: Autosomal Genetic Markerssupporting

confidence: 69%

Population Genetics of Latvians in the Context of Admixture between North-Eastern European Ethnic Groups

Krūmiņa

Pliss

Zariņa

et al. 2018

Proceedings of the Latvian Academy of Sciences. Section B. Natural, Exact, and Applied Sciences.

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This article presents a review on population genetics of Latvians, which alongside Lithuanians are the two extant Baltic speaking populations. The article provides a description of genome-wide single nucleotide polymorphism (SNP) data and contains a comparative analysis of the results of studies performed on classical autosomal genetic markers, mitochondrial DNA (mtDNA) and the non-recombining part of the Y chromosome (NRY), with data on neighbouring populations. The study also covers data of recently performed ancient DNA (aDNA) studies carried out on samples from the territory of today’s Latvia. The results of population genetic studies have shown a mixture of eastern and western genetic traits in present-day Latvians with only small differences between Latvian subpopulations. Studies of the Baltic “tribal gene” LWb, as well as the gene’s SERPINA1 allele PIZ have indicated the presence of a considerable Baltic admixture in the neighbouring Finno-Ugric and Slavic populations. Although mtDNA analyses have shown that Latvians genetically in general belong to the same common gene pool as most of the Europeans, the Y-chromosomal lineage composition suggests that they are most similar to Northern and Eastern European populations of Lithuanians, Estonians, and Eastern-Slavic populations, which are ethnogenetically closest to them. The analysis of aDNA from the Early and Middle Neolithic did not present any genomic evidence of gene-flow from Central European farmers or any mitochondrial or Y-chromosomal haplogroups that are typical for them in the hunter-gatherers from the territory of today’s Latvia and Lithuania.

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Section: Autosomal Genetic Markerssupporting

confidence: 69%

Population Genetics of Latvians in the Context of Admixture between North-Eastern European Ethnic Groups

Krūmiņa

Pliss

Zariņa

et al. 2018

Proceedings of the Latvian Academy of Sciences. Section B. Natural, Exact, and Applied Sciences.

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“…Global averages for countries inhabited by the West Slavs – dashed line, South Slavs – lower solid thick line, and East Slavs – upper solid thick line (references as in Table 1). Global averages for other countries – Austria (36), Denmark (37), Estonia (38,39), Finland (7,40-42), France (19,20), Greece (7), Germany (7-9), Hungary (43), Iceland (7,44), both (45), Ireland (6,7,46-48), Italy (7,12,13,15,16,49-52), Netherlands (53,54), Norway (7,55,56), Portugal (57), Romania (18), Spain (7,11,17,58-61), Sweden (40), Switzerland (62), Turkey (7), UK (6,7,63-67). n.d. – no data.…”

Section: Resultsmentioning

confidence: 99%

“…In Finland, Hungary, Poland, Russia, Austria, Germany, Czech Republic, and Slovakia the prevalence was between 3.2 and 4%. In southern Europe (Greece, Romania, Italy, and Spain), the prevalence is very low (6-18) and in Turkey it is almost non-existent (7). According to more recent data, France (6.1%) can now be added to the northwestern group (19,20).…”

mentioning

confidence: 99%

Prevalence of 845G>A HFE mutation in Slavic populations: an east-west linear gradient in South Slavs

Adler

Jw²,

Łoniewska³

et al. 2011

Croat Med J

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AimTo compare A allele frequencies of the 845G>A mutation of 10 Slavic populations in central, eastern, and southern Europe between each other and with other European populations.MethodsThe 845G>A mutation from the DNA of 400 Polish neonates collected in 2005-2006 was analyzed by polymerase chain reaction-restriction fragment length polymorphism. The data were compared with reports from other countries.ResultsWe identified 381 GG homozygotes, 18 GA heterozygotes, and 1 AA homozygote. The 845A allele frequency was 2.5%, which makes the summary figure for Poland from this and previous studies 3.5%. The average prevalence for Poland and other West Slavic countries was 3.6%, similar to Russia (inhabited by the East Slavs, 3.5%). The average prevalence in South Slavic countries was 2.2%, gradually decreasing from 3.6% in Slovenia to 0% in Bulgaria, with a longitudinal linear gradient (adjusted R2 = 0.976, P < 0.001).ConclusionsThe West and East Slavs, together with Finland, Estonia, Germany, Austria, Hungary, Slovenia, and Croatia, form a group with 845A allele frequencies between 3% and 4%. In the South Slavs, there is a gradual decline in the prevalence of 845A allele from northwest to southeast, with a surprisingly exact east-west linear gradient.

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“…S65D mutation is a rare condition, frequently is presented compound with C282Y, which creates minor forms of HH [16]. On the contrary, non-HFE mutations seem to be more common in some populations in southern Europe [18,19] and Asia [20], where C282Y mutation is less likely to occur. An especially low frequency of C282Y mutation was reported from Iran [11,13,14].…”

Section: Introductionmentioning

confidence: 99%

Iranian hereditary hemochromatosis patients: Baseline characteristics, laboratory data and gene mutations

et al. 2012

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SummaryBackgroundHereditary hemochromatosis (HH) is the most common autosomal recessive disorder in white people, characterized by highly abnormal uptake of iron from the gastrointestinal tracts. Recently, mutation studies have focused to detect the genes responsible for HH.Material/MethodsIn this cross-sectional study, 12 HH patients were recruited, who were referred to Firoozgar Hospital, Tehran, Iran. In addition to the clinical assessments, a complete laboratory evaluation, imaging modalities, histopathologic assessment, atomic absorption spectrophotometry and gene mutation study were performed. The genetic study for HFE gene mutation was examined for all of the patients since 2006, while non-HFE mutation was conducted since December 2010 (only for 1 of them).ResultsTwelve patients were evaluated consisting of 11 men and 1 woman, with the mean age of 39.58±12.68 yr. The average of atomic iron loads was 13.25±4.83-fold higher than normal standards. Four patients had heterozygotic mutation of H63D (33.3%). There was no significant difference in either the iron load of liver (P=0.927) and heart (P=0.164) or serum concentration of ferritin (P=0.907) and TIBC (P=0.937) between the HFE-mutant and without HFE mutation HH cases.ConclusionsIn contrast to other studies, C282Y mutation was not detected in any of our Iranian HH patients. Heterozygotic mutations of H63D (HFE) and TFR2 (non-HFE) genes were found to be more common in these patients. Similar to previous reports, these mutations were not found to be significantly associated with severity of presentation in HH patients.

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Prevalence of HFE (hemochromatosis) gene mutations C282Y and H63D in a Romanian population

Cited by 8 publications

References 8 publications

Population Genetics of Latvians in the Context of Admixture between North-Eastern European Ethnic Groups

Population Genetics of Latvians in the Context of Admixture between North-Eastern European Ethnic Groups

Prevalence of 845G>A HFE mutation in Slavic populations: an east-west linear gradient in South Slavs

Iranian hereditary hemochromatosis patients: Baseline characteristics, laboratory data and gene mutations

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