title: Frequency of CCR5Δ32 allele in healthy Bosniak population.
abstract: Recent evidence has demonstrated the role of CCR5Δ32 in a variety of human diseases: from infectious and inflammatory diseases to cancer. Several studies have confirmed that genetic variants in chemokine receptor CCR5 gene are correlated with susceptibility and resistance to HIV infection. A 32-nucleotide deletion within the CCR5 reading frame is associated with decreased susceptibility to HIV acquisition and a slower progression to AIDS. Mean frequency of CCR5Δ32 allele in Europe is approximately 10%. The highest allele frequency is observed among Nordic populations (about 12%) and lower in the regions of Southeast Mediterranean (about 5%). Although the frequency of CCR5Δ32 was determined in numerous European populations, there is a lack of studies on this variant in the Bosnia and Hercegovina population. Therefore, the aim of our study was to assess the frequency of CCR5Δ32 allele in the cohort of Bosniaks and compare the results with European reports. CCR5Δ32 was detected by sequence-specific PCR in a sample of 100 healthy subjects from Bosnia and Herzegovina (DNA collected 2011-2013). Mean age of the cohort being 58.8 (± 10.7) years, with 82% of women. We identified 17 heterozygotes and one mutant homozygote in study group, with mean ∆32 allele frequency of 9.5%. CCR5∆32 allele frequency among Bosniaks is comparable to that found in Caucasian populations and follows the pattern of the north-southern gradient observed for Europe. Further studies on larger cohorts with adequate female-to-male ratio are necessary.
authors.affiliation: The Department of Gerontobiology, Pomeranian Medical University, ul. Żołnierska 48, 71-210 Szczecin, Poland. gra2@op.pl.
authors.forename: Grażyna
authors.initials: G
authors.lastname: Adler
authors.forename: Amina
authors.initials: A
authors.lastname: Valjevac
authors.forename: Karolina
authors.initials: K
authors.lastname: Skonieczna-Żydecka
authors.forename: Mirela
authors.initials: M
authors.lastname: Mackic-Djurovic
authors.forename: Miłosz
authors.initials: M
authors.lastname: Parczewski
authors.forename: Anna
authors.initials: A
authors.lastname: Urbańska
authors.forename: Nermin Nusret
authors.initials: NN
authors.lastname: Salkic
mesh_terms: D000368:Aged; D000483:Alleles; D017522:Bosnia and Herzegovina; D015331:Cohort Studies; D005060:Europe; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005843:Geography; D015658:HIV Infections / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D019713:Receptors, CCR5 / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: C584933:CCR5 protein, human; D019713:Receptors, CCR5