CCR5-Δ32 gene variant frequency in the Turkish Cypriot population

Fahrioğlu, Umut; Ergoren, Mahmut Cerkez; Mocan, Gamze

doi:10.1007/s42770-020-00352-8

Cited by 3 publications

(3 citation statements)

References 18 publications

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“… 18 , 19 We have also determined the genotypic distributions and allelic frequencies of the CCR5 gene variations in the Turkish Cypriot population. They observed approximately 3.0% of allelic frequency of the CCR5 -Δ32 variation within the Turkish Cypriot population with no observed homozygous individual of CCR5 -Δ32 allele 20 .…”

Section: Discussionmentioning

confidence: 96%

CCR5-Δ32 gene variant frequency in the Nigerian and Zimbabwean populations living in North Cyprus

Ndikom¹,

Ergören²,

Sayan³

et al. 2022

Afr H. Sci.

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Background: The cystine-cystine chemokine receptor 5 (CCR5) is the primary HIV co-receptor involved in the viral entry process into human cells. The 32 bp deletion variant within the CCR5 gene (CCR5-Δ32) plays a very important role in viral recognition and progression of AIDS. Objective: The current study was aimed at evaluating the CCR5-Δ32 gene variation frequency in Nigerian and Zimbabwean populations residing in Northern Cyprus. Methods: A total number of 211 subjects (103 Nigerians and 108 Zimbabweans) were analyzed. Nigerian population was further analyzed with respect to the three major ethnicities: Igbo, Hausa, and Yoruba. Polymerase Chain Reaction was used to determine the CCR5-Δ32 gene variant status. Results: All studied subjects from both sampling groups were homozygous for the CCR5 wild type gene (CCR5–wt), meaning neither heterozygous nor homozygous genotypes of CCR5-Δ32 gene variant were observed.Conclusion: This study observed the absence of CCR5-Δ32 deletion gene in the Nigeria and Zimbabwean populations living in Northern Cyprus. These populations lack the genetic advantage over HIV infection and may also show a rapid progression towards AIDS. Additionally, these populations could impact the local gene frequency as these two populations interact more and more. Keywords: CCR5-Δ32; HIV; Nigerian; Zimbabwean; CCR5; North Cyprus.

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Section: Discussionmentioning

confidence: 96%

CCR5-Δ32 gene variant frequency in the Nigerian and Zimbabwean populations living in North Cyprus

Ndikom¹,

Ergören²,

Sayan³

et al. 2022

Afr H. Sci.

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“…Whole blood samples of PLHIV of the 200 HIV pilot study collected in EDTA tubes (BD Vacutainer) were used for genomic DNA extraction. The assessment of the region of the CCR5 gene containing the d32 deletion was adapted from (48). Primer sequences are listed in Methods, S4 Table.…”

Section: Methodsmentioning

confidence: 99%

“…A Sysmex XN-450 automated hematology analyzer (Sysmex Corporation, Kobe, Japan) was used for determination of cell counts and to calculate absolute numbers of CD45+ white blood cell (WBC) counts as measured by flow cytometry. Methods, S3 Table shows The assessment of the region of the CCR5 gene containing the d32 deletion was adapted from (48). Primer sequences are listed in Methods, S4 Table . The PCR reactions were prepared using the 5X Q5 buffer, 10 mM dNTPs, Q5 High-Fidelity DNA Polymerase (New England Biolabs, Inc) and 10 uM forward and reverse primers.…”

Section: Antibodies and Flow Cytometrymentioning

confidence: 99%

Host genetic variants regulates CCR5 expression on immune cells: a study in people living with HIV and healthy controls

Santos

Zhang

Eekeren

et al. 2022

Preprint

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C-C chemokine receptor 5 (CCR5) is the main HIV co-receptor affecting susceptibility and disease course. Quantitative trait loci (QTL) mapping analysis was performed to assess genetic variants associated with CCR5 expression on circulating immune cells in 209 PLHIV using ART and 304 healthy controls, all of Western European ancestry. The proportions of CCR5 positive cells and CCR5 mean fluorescence intensity (MFI) were assessed by flow cytometry in monocytes and CD4+ and CD8+ T cell subsets using flow cytometry. We identified the rs60939770, which is an intergenic variant in cis-region to CCR5 gene not in linkage disequilibrium with CCR5d32, related to the proportion of CCR5+ memory T regulatory cells, both in PLHIV and healthy controls. Two genome-wide significant loci, in linkage equilibrium with CCR5d32, were found to be associated with CCR5 MFI of multiple subsets of mostly differentiated memory T cells in both groups. The expression of nearby chemokines receptors (CCR1, CCR2, CCR3, CCRL2), existing in the same the same topologically associating domain, were also influenced by these genetic variants. Furthermore, we show the genetic variants which modulate CCR5 surface expression affect the production of other inflammatory mediators, including monocyte- and lymphocytederived cytokines as well as CCL4 and IL-8. Our data indicate that the genetic regulation of CCR5 expression is cell-specific and affects the production of various inflammatory mediators.

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Tracing the evolutionary path of the CCR5delta32 deletion via ancient and modern genomes

Ravn

Cobuccio

Muktupavela

et al. 2023

Preprint

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The chemokine receptor variant CCR5delta32 is linked to HIV-1 infection resistance and other pathological conditions. In European populations, the allele frequency ranges from 10-16%, and its evolution has been extensively debated throughout the years. We provide a detailed perspective of the evolutionary history of the deletion through time and space. We discovered that the CCR5delta32 allele arose on a pre-existing haplotype consisting of 84 variants. Using this information, we developed a haplotype-aware probabilistic model to screen for this deletion across 860 low-coverage ancient genomes and we found evidence that CCR5delta32 is at least 7,000 years BP in age, with a likely origin somewhere in the Western Eurasian Steppe region. We further show evidence that the CCR5delta32 haplotype underwent positive selection between 7,000-2,000 BP in Western Eurasia and that the presence of the haplotype in Latin America can be explained by post-Columbian genetic exchanges. Finally, we point to new complex CCR5delta32 genotype-haplotype-phenotype relationships, which demand consideration when targeting the CCR5 receptor for therapeutic strategies.

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CCR5-Δ32 gene variant frequency in the Turkish Cypriot population

Cited by 3 publications

References 18 publications

CCR5-Δ32 gene variant frequency in the Nigerian and Zimbabwean populations living in North Cyprus

CCR5-Δ32 gene variant frequency in the Nigerian and Zimbabwean populations living in North Cyprus

Host genetic variants regulates CCR5 expression on immune cells: a study in people living with HIV and healthy controls

Tracing the evolutionary path of the CCR5delta32 deletion via ancient and modern genomes

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