The Frequency of Allele CCR5∆32 in a Serbian Population / UČESTALOST ALELA CCR5∆32 U SRPSKOJ POPULACIJI

Open access

Summary

Background: The mutant CCR5Δ32 allele confers resist- ance to HIV infection. Several hypotheses regarding its ori- gin and persistence in the human population have been proposed. It is assumed that the Δ32 mutation was intro- duced in Northern or Eastern Europe and that it spread to the south. Although the frequency of CCR5Δ32 was deter- mined in numerous European nations and regions, further data are needed to complete the puzzle of CCR5Δ32 dis- tribution within the continent.

Methods: To this end, CCR5Δ32 frequency was determined in a Serbian population (sample size 352). DNA was extracted from peripheral whole blood and polymerase chain reaction specific for CCR5 gene was performed. A reaction product of 263 bp was obtained from the wild- -type CCR5 sequence and a product of 231 bp was ob- tained from the truncated CCR5Δ32 sequence.

Results: Overall allele frequency of CCR5Δ32 is 4.55%; 0.57% of individuals in the examined population are homo- zygous and 8.52% are heterozygous for CCR5Δ32.

Conclusions: The determined frequency of the CCR5Δ32 allele in a Serbian population is unexpectedly low, consid- ering ethnically related populations. Keywords: CCR5, Δ32, Serbia.

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  • 18. Magierowska M Lepage V Boubnova L Carcassi C de Juan D Djoulah S et al. Distribution of the CCR5 gene 32 base pair deletion and SDF1-3'A variant in healthy individuals from different populations. Immunogenetics 1998; 48: 417-19.

  • 19. Radivojević D Đuriđić M Lalić T Guc-Ščekić M Savić J Minić P et al. Spectrum of cystic fibrosis mutations in Serbia and Montenegro and strategy for prenatal diagnosis. Genet Test 2004; 8: 276-80.

  • 20. Nikolić A Divac A Stanković M Dinić J Tomić B Ljujić M. Analysis of common CFTR polymorphisms 5T M470V and R75Q in healthy Serbian population. Genetika 2006; 42: 996-8.

  • 21. Radmilović M Žukić B Stanković B Karan-Đurašević T Stojiljković M Spasovski V et al. Thalassemia syndromes in Serbia: an update. Hemoglobin 2010; 34: 477-85.

  • 22. Allers K Hütter G Hofmann J Loddenkemper C Rieger K Thiel E Schneider T. Evidence for the cure of HIV infection by CCR5D32/D32 stem cell transplantation. Blood 2011; 117: 2791-9.

  • 1. Alcami A Lira SA. Modulation of chemokine activity by viruses. Curr Opin Immunol 2010; 22: 482-7.

  • 2. Wilen CB Tilton JC Doms RW. Molecular mechanisms of HIV entry. Adv Exp Med Biol 2012; 726: 223-42.

  • 3. Blanpain C Libert F Vassart G Parmentier M. CCR5 and HIV infection. Receptors and Channels 2002; 8: 19-31.

  • 4. Libert F Cochaux P Beckman G Samson M Aksenova M Cao A et al. The deltaccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe. Hum Mol Genet 1998; 7: 399-406.

  • 5. Balanovsky O Pocheshkhova E Pshenichnov A Solovieva D Kuznetsova M Voronko O et al. Is spatial distribution of the HIV-1-resistant CCR5delta32 allele formed by ecological factors? J Physiol Anthropol Appl Human Sci 2005; 24: 375-82.

  • 6. Lucotte G. Distribution of the CCR5 gene 32-basepair deletion in West Europe. A hypothesis about the possible dispersion of the mutation by the Vikings in historical times. Hum Immunol 2001; 62: 933-6.

  • 7. Stephens JC Reich DE Goldstein DB Shin HD Smith MW Carrington M et al. Dating the origin of the CCR5- delta32 AIDS-resistance allele by the coalescence of haplotypes. Am J Hum Genet 1998; 62: 1507-15.

  • 8. Kremeyer B Hummel S Herrmann B. Frequency analysis of the delta32ccr5 HIV resistance allele in a medieval plague mass grave. Anthropol Anz 2005; 63: 13-22.

  • 9. Duncan SR Scott S Duncan CJ. Reappraisal of the historical selective pressures for the CCR5-delta32 mutation. J Med Genet 2005; 42: 205-8.

  • 10. Galvani AP Slatkin M. Evaluating plague and smallpox as historical selective pressures for the CCR5-delta 32 HIVresistance allele. Proc Natl Acad Sci USA 2003; 100: 15276-9.

  • 11. Hedrick PW Verrelli BC. »Ground truth« for selection on CCR5-delta32. Trends Genet 2006; 22: 293-6.

  • 12. Zawicki P Witas HW. HIV-1 protecting CCR5-delta32 allele in medieval Poland. Infect Genet Evol 2008; 8: 146-51.

  • 13. Hummel S Schmidt D Kremeyer B Herrmann B Opper mann M. Detection of the CCR5-delta32 HIV resistance gene in Bronze Age skeletons. Genes Immun 2005; 6: 371-4.

  • 14. Faure E Royer-Carenzi M. Is the European spatial distribution of the HIV-1-resistant CCR5-delta32 allele formed by a breakdown of the pathocenosis due to the historical Roman expansion? Infect Genet Evol 2008; 8: 864-74.

  • 15. Lim JK McDermott DH Lisco A Foster GA Krysztof D Follmann D et al. CCR5 deficiency is a risk factor for early clinical manifestations of West Nile virus infection but not for viral transmission. J Infect Dis 2010; 201: 178-85.

  • 16. Guergnon J Combadière C. Role of chemokines polymorphisms in diseases. Immunol Lett 2012; 145: 15-22.

  • 17. Limborska SA Balanovsky OP Balanovskaya EV Slominsky PA Schadrina MI Livshits LA et al. Analysis of CCR5D32 geographic distribution and its correlation with some climatic and geographic factors. Hum Hered 2002; 53: 49-54.

  • 18. Magierowska M Lepage V Boubnova L Carcassi C de Juan D Djoulah S et al. Distribution of the CCR5 gene 32 base pair deletion and SDF1-3'A variant in healthy individuals from different populations. Immunogenetics 1998; 48: 417-19.

  • 19. Radivojević D Đuriđić M Lalić T Guc-Ščekić M Savić J Minić P et al. Spectrum of cystic fibrosis mutations in Serbia and Montenegro and strategy for prenatal diagnosis. Genet Test 2004; 8: 276-80.

  • 20. Nikolić A Divac A Stanković M Dinić J Tomić B Ljujić M. Analysis of common CFTR polymorphisms 5T M470V and R75Q in healthy Serbian population. Genetika 2006; 42: 996-8.

  • 21. Radmilović M Žukić B Stanković B Karan-Đurašević T Stojiljković M Spasovski V et al. Thalassemia syndromes in Serbia: an update. Hemoglobin 2010; 34: 477-85.

  • 22. Allers K Hütter G Hofmann J Loddenkemper C Rieger K Thiel E Schneider T. Evidence for the cure of HIV infection by CCR5D32/D32 stem cell transplantation. Blood 2011; 117: 2791-9.

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