Hemochromatosis gene mutations in the Croatian and Slovenian populations

Ristić, Smiljana; Makuc, Jana; Starčević, Nada; Logar, Nataša; Brajenović-Milić, Bojana; Štepec, Srečko; Pleša, Ivana; Kapović, Miljenko; Milić, Sandra; Štimac, Davor; Crnić-Martinović, Marija; Peterlin, Borut

doi:10.1034/j.1399-0004.2003.00169.x

Cited by 17 publications

(17 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…According to the geographic position in Europe the prevalence of the C282Y mutation in Bosnia and Herzegovina (2.25%) fits in the observed nort (soth gradient. Recent studies have shown that in Slovenia the observed allele frequency of the C282Y mutations is 4.0%, in Croatia 3.3% (Ristić S. et al, 2003), and in Greece 1.0%, which is comparable to the frequencies found in Bosnia and Herzegovinian population. In the Bosnia-Herzegovina population, the H63D allele frequencies is 11.5%.…”

Section: Resultssupporting

confidence: 48%

Investigation of the Variability of Bosnian-Herzegovinian Population by Analysis of Dna Polymorphisms / Istraživanje Varijabilnosti Bosanskohercegovačke Populacije Analizom Dna Polimorfizama

Terzić¹,

Hercegovac²,

Petrovič³

et al. 2012

Struktura I Dinamika Ekosistema Dinarida / Structure and Dynamics of Ecosystem Dinarides

View full text Add to dashboard Cite

Molecular-genetic methods allow direct assessment of genetic diversity at the level of diversity of DNA structures between individuals of the same type. Factors that may influence the association of alleles with disease, such as ethnic or gender effect, can't be determined without allelic frequencies in populations.The aim of our study was to determine the frequency of gene alleles for the hemochromatosis and the gene for angiotensin converting enzyme in the Bosnian-Herzegovinian population. The goal of study of gene copy number of DAZ was to determine the frequency of partial DAZ gene deletions and to analyse the existence of duplications in the general Bosnian population. The study included healthy subjects from Bosnia and Herzegovina, namely 200 healthy subjects for the gene mutation for hemochromatosis, 50 men for the analysis of DAZ gene copy number. Insertion/deletion polymorphism of the gene for angiotensin -converting enzyme were analysed in 212 CAD patients younger than 50 years and 165 healthy persons from Bosnia and Herzegovina. The study applied PCR -RFLP and RT -PCR. For data processing software a software package ABI Prism Sequence Detection is used. Akademija nauka i umjetnosti Bosne i HercegovineThe allele frequencies of C282Y and H63D were 2.25% (95% CI: 1.2-4.2) and 11.5% (95% CI: 8.7-14.9). The estimated mutation frequency C282Y and H63D in Bosnia and Herzegovina fits into a European gradient distribution of mutation C282Y from the northwest to the southeast. Patients with CAD had a higher frequency of DD genotype (36.3%) compared to controls (25.6%). The frequency of duplication was 8% (4/50) in Bosnian-Herzegovinian population.The frequencies of alleles identified in the population of Bosnia and Herzegovina did not differ significantly from the frequencies identified in the other world populations. Key words: variability, hemochromatosis, ACE, DAZ genes SAŽETAKMolekularno-genetičke metode omogućavaju neposrednu procjenu genetičkog diverziteta na nivou raznovrsnosti DNK strukture između jedinki koje pripadaju istoj vrsti. Faktore koji mogu uticati na povezanost alela sa bolešću, kao što su etnički ili uticaj spola, nije moguće utvrditi bez alelskih frekvencija u populacijama.U našem istraživanju cilj je bio ustanoviti frekvencije alela gena za hemohromatozu i gena za angiotenzin konvertirajući enzim u bosanskohercegovač-koj populaciji. Istraživanjem broja kopija DAZ gena cilj je bio odrediti učestalost parcijalne delecije DAZ gena i analizirati postojanje duplikacija u opštoj bosanskohercegovačkoj populaciji.Istraživanje je obuhvatilo zdrave ispitanike iz Bosne i Hercegovine, i to 200 zdravih ispitanika za mutacije gena za hemohromatozu, a 50 muškaraca za analizu broja kopija DAZ gena. Insercijsko/delecijski polimorfizam gena za angiotenzin -konvertirajući enzim analizirali smo kod 212 CAD bolesnika mlađih od 50 godina i 165 zdravih osoba iz Bosne i Hercegovine. U istraživanju su primijenjene metode PCR -RFLP i RT -PCR. Za obradu rezultata korišten je softverski paket Software ABI Pri...

show abstract

Section: Resultssupporting

confidence: 48%

Investigation of the Variability of Bosnian-Herzegovinian Population by Analysis of Dna Polymorphisms / Istraživanje Varijabilnosti Bosanskohercegovačke Populacije Analizom Dna Polimorfizama

Terzić¹,

Hercegovac²,

Petrovič³

et al. 2012

Struktura I Dinamika Ekosistema Dinarida / Structure and Dynamics of Ecosystem Dinarides

View full text Add to dashboard Cite

show abstract

“…The estimated frequency in the Slovak population is 4.04%. This number is comparable to the neighboring countries (Austria 3.7% [17], Germany 3.8%, Hungary 3.4% [11]) and to European populations of Slavic origin, where the frequencies range from 3.1 to 4% in the general populations [12,13,[18][19][20]. It differs significantly from the populations in Northern and Southern Europe [11], thus the data fit into the established Northwest to Southeast gradient.…”

Section: Discussionmentioning

confidence: 84%

“…The 1.25% allelic frequency in our sample appears to be lower than other reported frequencies. Recent studies have reported S65C prevalence in Slavic populations as follows: 1.2% in the Czech Republic [13], 1.6% in Serbia [22] and 1.8% in Slovenia [16] and Croatia [12]. Due to the size of the examined sample the difference does not prove to be significant.…”

Section: Discussionmentioning

confidence: 90%

See 1 more Smart Citation

Hemochromatosis gene mutations in the general population of Slovakia

et al. 2011

View full text Add to dashboard Cite

AbstractThis is an epidemiologic study of the Slovak population with the aim of determining the frequencies of three hemochromatosis gene (HFE) variants C282Y, H63D and S65C known to be associated with manifestation of hereditary hemochromatosis and to assess deviations of these frequencies from those reported elsewhere. Mutations were detected in 359 ethnic Slovaks by real-time PCR assay based on TaqMan technology. The allelic frequencies were 4.03% for C282Y, 12.67% for H63D and 1.25% for S65C mutation. We observed 0.28% of C282Y/C282Y homozygotes, 3.34% H63D/H63D homozygotes, 0.84% of C282Y/H63D compound heterozygotes and 0.56% of H63D/S65C compound heterozygotes. This is the first time the frequencies of H63D and S65C mutations have been reported in the general population in Slovakia. The observed allelic frequencies are consistent with the previous studies of Slavic and Central European populations.

show abstract

“…16 When compared, our patients' mutated frequency did not differ significantly (p=0.864, p=0.716 and p=0.851 for mutated HFE, C282Y and H63D respectively) ( Table 2). There were no significant differences in age at diagnosis, sex or need for blood transfusions between the mutated and wild type patients.…”

Section: Hfe Mutations Frequencymentioning

confidence: 99%

Hemochromatosis gene mutations may affect the survival of patients with myelodysplastic syndrome

et al. 2016

View full text Add to dashboard Cite

Conflict of interest statementThe authors declare that there are no conflicts of interest. AcknowledgementsThe authors would like to thank Wilma Miletić for help with manuscript preparation. 2 AbstractObjectives: The recent availability of potent oral iron chelators is renewing an interest in the assessment of the possible impact of HFE genetics in MDS.Methods: 36 newly diagnosed patients with MDS were studied for parameters of iron metabolism in addition to C282Y and H63D mutations of the HFE gene.Results: Mutations were present in 11 out of 36 patients (31%), which was not different from our general population and were equally distributed among MDS subtypes. Mutated patients had higher ferritin levels (p=0.039) and lower TIBC (p=0.018). Ferritin was found to be higher for the untransfused mutated patients (p=0.017), but not for transfusion-dependent patients in whom ferritin levels correlated significantly with the number of blood units received (p=0.04). There was no difference in the number of blood units received between the mutated and wild type patients. A new observation made was that the mutated patients had a lower overall survival (OS) in addition to a poorer leukemia free survival (LFS) (p=0.004 and p=0.003, respectively). Discussion:The HFE gene mutations are not more frequent in MDS patients. Iron overload in mutated patients was higher but there was no correlation found using supportive therapy for anaemia.The effect of mutations on survival could be mediated by changes in iron metabolism. Conclusion:The HFE gentopye may predict MDS prognosis and there is a need for further studies. It remains a challenging question if HFE mutated MDS patients should be considered for potent iron chelation therapy.

show abstract

Hemochromatosis gene mutations in the Croatian and Slovenian populations

Cited by 17 publications

References 12 publications

Investigation of the Variability of Bosnian-Herzegovinian Population by Analysis of Dna Polymorphisms / Istraživanje Varijabilnosti Bosanskohercegovačke Populacije Analizom Dna Polimorfizama

Investigation of the Variability of Bosnian-Herzegovinian Population by Analysis of Dna Polymorphisms / Istraživanje Varijabilnosti Bosanskohercegovačke Populacije Analizom Dna Polimorfizama

Hemochromatosis gene mutations in the general population of Slovakia

Hemochromatosis gene mutations may affect the survival of patients with myelodysplastic syndrome

Contact Info

Product

Resources

About