Unique Frequencies of HFE Gene Variants in Roma/Gypsies

Overview

Journal J Appl Genet

Publisher Springer

Specialty Genetics

Date 2012 Feb 23

PMID 22354660

Citations 4

Authors

Dana Gabrikova

Jarmila Bernasovska

Sona Macekova

Alexandra Bozikova

Ivan Bernasovsky

Alena Balisinova

Adriana Sovicova

Regina Behulova

Eva Petrejcikova

Miroslav Sotak

Iveta Boronova

Affiliations

Soon will be listed here.

Abstract

The aim of this study was to assess the frequencies of three hemochromatosis gene (HFE) mutations in ethnic Roma/Gypsies in Slovakia. A cohort of 367 individuals representing general population and not preselected for health status was genotyped by TaqMan real-time PCR assay for C282Y, H63D and S65C mutations in HFE gene. A unique genetic profile was revealed: C282Y is found in the highest frequency of all Central European countries (4.90%), while the frequency of H63D mutation (4.09%) is lower than any reported in Europe so far. S65C mutation was not present in the cohort. These mutation frequencies can be explained rather by gene influx and genetic isolation than by genetic inheritance from a former Roma/Gypsy homeland.

Citing Articles

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

Heath K, Axton J, McCullough J, Harris N Am J Phys Anthropol. 2016; 160(1):86-101.

PMID: 26799452 PMC: 5066702. DOI: 10.1002/ajpa.22937.

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

Barton J, Edwards C, Acton R Gene. 2015; 574(2):179-92.

PMID: 26456104 PMC: 6660136. DOI: 10.1016/j.gene.2015.10.009.

MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin.

Masindova I, Soltysova A, Varga L, Matyas P, Ficek A, Huckova M PLoS One. 2015; 10(4):e0124232.

PMID: 25885414 PMC: 4401708. DOI: 10.1371/journal.pone.0124232.

The low frequency of recessive disease: insights from ENU mutagenesis, severity of disease phenotype, GWAS associations, and demography: an analytical review.

Erickson R, Mitchison N J Appl Genet. 2014; 55(3):319-27.

PMID: 24652618 DOI: 10.1007/s13353-014-0203-3.

References

Merryweather-Clarke A, Pointon J, Jouanolle A, Rochette J, Robson K . Geography of HFE C282Y and H63D mutations. Genet Test. 2000; 4(2):183-98. DOI: 10.1089/10906570050114902. View

Feder J, Tsuchihashi Z, Irrinki A, Lee V, Mapa F, Morikang E . The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. J Biol Chem. 1997; 272(22):14025-8. DOI: 10.1074/jbc.272.22.14025. View

Moczulski D, Grzeszczak W, Gawlik B . Frequency of the hemochromatosis C282Y and H63D mutations in a Polish population of Slavic origin. Med Sci Monit. 2001; 7(3):441-3. View

Morar B, Gresham D, Angelicheva D, Tournev I, Gooding R, Guergueltcheva V . Mutation history of the roma/gypsies. Am J Hum Genet. 2004; 75(4):596-609. PMC: 1182047. DOI: 10.1086/424759. View

Kalaydjieva L, Gresham D, Gooding R, Heather L, Baas F, de Jonge R . N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. Am J Hum Genet. 2000; 67(1):47-58. PMC: 1287101. DOI: 10.1086/302978. View

Niederau C, Niederau C, Lange S, Littauer A, Maurer M, Haussinger D . Screening for hemochromatosis and iron deficiency in employees and primary care patients in Western Germany. Ann Intern Med. 1998; 128(5):337-45. DOI: 10.7326/0003-4819-128-5-199803010-00001. View

Chaix R, Austerlitz F, Morar B, Kalaydjieva L, Heyer E . Vlax Roma history: what do coalescent-based methods tell us?. Eur J Hum Genet. 2004; 12(4):285-92. DOI: 10.1038/sj.ejhg.5201126. View

Nagy M, Henke L, Henke J, Chatthopadhyay P, Volgyi A, Zalan A . Searching for the origin of Romanies: Slovakian Romani, Jats of Haryana and Jat Sikhs Y-STR data in comparison with different Romani populations. Forensic Sci Int. 2006; 169(1):19-26. DOI: 10.1016/j.forsciint.2006.07.020. View

Zlocha J, Kovacs L, Pozgayova S, Kupcova V, Durinova S . [Molecular genetic diagnostics and screening of hereditary hemochromatosis]. Vnitr Lek. 2006; 52(6):602-8. View

10.

Asberg A, Thorstensen K, Hveem K, Bjerve K . Hereditary hemochromatosis: the clinical significance of the S65C mutation. Genet Test. 2002; 6(1):59-62. DOI: 10.1089/109065702760093933. View

11.

Ivanova A, von Ahsen N, Adjarov D, Krastev Z, Oellerich M, Wieland E . C282Y and H63D mutations in the HFE gene are not associated with porphyria cutanea tarda in Bulgaria. Hepatology. 1999; 30(6):1531-2. DOI: 10.1002/hep.510300626. View

12.

Underhill P, Shen P, Lin A, Jin L, Passarino G, Yang W . Y chromosome sequence variation and the history of human populations. Nat Genet. 2000; 26(3):358-61. DOI: 10.1038/81685. View

13.

Kalaydjieva L, Calafell F, Jobling M, Angelicheva D, de Knijff P, Rosser Z . Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages. Eur J Hum Genet. 2001; 9(2):97-104. DOI: 10.1038/sj.ejhg.5200597. View

14.

Cimburova M, Putova I, Provaznikova H, Pinterova D, Horak J . S65C and other mutations in the haemochromatosis gene in the Czech population. Folia Biol (Praha). 2006; 51(6):172-6. View

15.

Szakony S, Balogh I, Muszbek L . The frequency of the haemochromatosis C282Y mutation in the ethnic Hungarian and Romany populations of eastern Hungary. Br J Haematol. 1999; 107(2):464-5. DOI: 10.1046/j.1365-2141.1999.01787.x. View

16.

Feder J, Penny D, Irrinki A, Lee V, Lebron J, Watson N . The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci U S A. 1998; 95(4):1472-7. PMC: 19050. DOI: 10.1073/pnas.95.4.1472. View

17.

Jonsson J, Johannesson G, Sigfusson N, Magnusson B, Thjodleifsson B, Magnusson S . Prevalence of iron deficiency and iron overload in the adult Icelandic population. J Clin Epidemiol. 1991; 44(12):1289-97. DOI: 10.1016/0895-4356(91)90090-v. View

18.

Distante S, Robson K, Graham-Campbell J, Arnaiz-Villena A, Brissot P, Worwood M . The origin and spread of the HFE-C282Y haemochromatosis mutation. Hum Genet. 2004; 115(4):269-79. DOI: 10.1007/s00439-004-1152-4. View

19.

Voicu P, Cojocariu C, Petrescu-Danila E, Covic M, Stanciu C, Rusu M . Prevalence of HFE (hemochromatosis) gene mutations C282Y and H63D in a Romanian population. Blood Cells Mol Dis. 2008; 42(1):14-5. DOI: 10.1016/j.bcmd.2008.08.004. View

20.

Ferak V, Sivakova D, Sieglova Z . [The Slovak gypsies (Romany)--a population with the highest coefficient of inbreeding in Europe]. Bratisl Lek Listy. 1987; 87(2):168-75. View