Significant Effects of CCR5delta32 Polymorphism on Alzheimer‘S Disease, Neurological Disorders, Cancer, Diabetes and Viral Infection in the Worldwide Population

Frenkel‐Morgenstern, Milana

doi:10.34297/ajbsr.2021.13.001852

Cited by 1 publication

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“…Besides the significant effect on HIV infection, the CCR5delta32 allele has also been associated with other pathological conditions including infection by other viral organisms (including SARS-CoV-2 which causes COVID-19), immune-related diseases, neurological disorders, and various types of cancer 20,[29][30][31][32][33][34][35][36][37][38][39][40][41] . Together these studies indicate that the CCR5delta32 allele is pleiotropic and can act as a modulator of a given phenotype expression, with both advantages and disadvantages, depending on the medical context.…”

Section: Introductionmentioning

confidence: 99%

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.

show abstract

Section: Introductionmentioning

confidence: 99%

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

Ravn

Cobuccio

Muktupavela

et al. 2023

Preprint

View full text Add to dashboard Cite

show abstract

Significant Effects of CCR5delta32 Polymorphism on Alzheimer‘S Disease, Neurological Disorders, Cancer, Diabetes and Viral Infection in the Worldwide Population

Abstract: This work is licensed under Creative Commons Attribution 4.0 License AJBSR.MS.ID.001852.

Cited by 1 publication

References 67 publications

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

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

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