The CCR5-Delta32 genetic polymorphism and HIV-1 infection susceptibility: a meta-analysis

Ni, Jun; Wang, Dan; Wang, Sheng

doi:10.1515/med-2018-0062

Cited by 20 publications

(9 citation statements)

References 39 publications

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“…Combining data from WES and TaqMan assay, we found that heterozygotes are more frequent in 221 patients with severe COVID-19 than in controls (P GT = 0.027) (Table 3). We also verified the frequency of 32 bp deletion (CCR5-Delta32, rs333), which was already associated with HIV resistance [15] using our 147 COVID-19 hospitalized patients and an Italian cohort of controls from public exomes data of 1095 Italian individuals (Network for Italian Genomes) [23]. No significant difference of frequency of CCR5-Delta32 was observed between controls (10.22%) and COVID-19 cases (10.20%), (P = 0.99; OR = 0.99, 95% CI: 0.57-1.73).…”

Section: Coding Variants In Ccr5mentioning

confidence: 52%

Regulatory Noncoding and Predicted Pathogenic Coding Variants of CCR5 Predispose to Severe COVID-19

Cantalupo

Lasorsa

Russo

et al. 2021

IJMS

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Genome-wide association studies (GWAS) found locus 3p21.31 associated with severe COVID-19. CCR5 resides at the same locus and, given its known biological role in other infection diseases, we investigated if common noncoding and rare coding variants, affecting CCR5, can predispose to severe COVID-19. We combined single nucleotide polymorphisms (SNPs) that met the suggestive significance level (P ≤ 1 × 10−5) at the 3p21.31 locus in public GWAS datasets (6406 COVID-19 hospitalized patients and 902,088 controls) with gene expression data from 208 lung tissues, Hi-C, and Chip-seq data. Through whole exome sequencing (WES), we explored rare coding variants in 147 severe COVID-19 patients. We identified three SNPs (rs9845542, rs12639314, and rs35951367) associated with severe COVID-19 whose risk alleles correlated with low CCR5 expression in lung tissues. The rs35951367 resided in a CTFC binding site that interacts with CCR5 gene in lung tissues and was confirmed to be associated with severe COVID-19 in two independent datasets. We also identified a rare coding variant (rs34418657) associated with the risk of developing severe COVID-19. Our results suggest a biological role of CCR5 in the progression of COVID-19 as common and rare genetic variants can increase the risk of developing severe COVID-19 by affecting the functions of CCR5.

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Section: Coding Variants In Ccr5mentioning

confidence: 52%

Regulatory Noncoding and Predicted Pathogenic Coding Variants of CCR5 Predispose to Severe COVID-19

Cantalupo

Lasorsa

Russo

et al. 2021

IJMS

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“… 94 As for the meta-analysis by Ni et al, it also evaluated only Indel Δ32 from 24 case–control studies selected without language restriction in the final sample, in the temporal cut from 1996 to 2018, presenting results that this mutation may confer a possible protective role against HIV-1, both to susceptibility and disease severity. 95 Thus, the data configuration can be defined with contrasting aspects between the aforementioned reviews from their population approaches and selection methods.…”

Section: Discussionmentioning

confidence: 99%

The Influence Between C-C Chemokine Receptor 5 Genetic Polymorphisms and the Type-1 Human Immunodeficiency Virus: A 20-Year Review

Santana

Silva

Marin

et al. 2023

AIDS Research and Human Retroviruses

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Acquired immune deficiency syndrome (AIDS) is an infectious disease caused by the types 1 and 2 human immunodeficiency virus (HIV-1 and HIV-2). Clinical outcomes in patients are highly varied and delineated by complex interactions between virus, host, and environment, such as with help of co-receptors, for example, the C-C chemokine receptor 5 (CCR5). This work aimed to describe the scientific evidence relating the influence of CCR5 polymorphisms in association studies for HIV-1 disease susceptibility, severity, and transmissibility. This is a systematic review of the literature on single nucleotide polymorphisms (SNPs) and the deletion [Insertion and Deletion (Indel)] Δ32 of CCR5 . The search for articles was based on the ScienceDirect, PubMed, and Coordination for the Improvement of Higher Education Personnel (CAPES) databases for the period between 2001 and 2021. The final sample consisted of 32 articles. Correction: This article has been updated on December 22, 2022 after first online publication of November 9, 2022 to clarify two sentences in the Abstract: † This phrase formerly read: “The SNP rs1799987 is the genetic polymorphism most associated with HIV-1 susceptibility and severity criteria,”. ‡ This sentence formerly read: “Furthermore, the results about the Indel Δ32 corroborate the non-association of this variant with the protective role in HIV-1 infection.” SNP rs1799987 is one of the genetic polymorphisms most associated with the criteria of susceptibility and severity of HIV-1, having distinct consequences in genotypic, allelic, and clinical analysis in the variability of investigated populations. As for the transmission character of the disease, the G mutant allele of rs1799987 corresponds to the highest positive association. Correction: This article has been updated on December 22, 2022 after first online publication of November 9, 2022 to clarify two sentences in the Abstract: † This phrase formerly read: “The SNP rs1799987 is the genetic polymorphism most associated with HIV-1 susceptibility and severity criteria,”. ‡ This sentence formerly read: “Furthermore, the results about the Indel Δ32 corroborate the non-association of this variant with the protective role in HIV-1 infection.” Furthermore, the results on Indel Δ32 corroborate the absence and rarity of this variant in some populations. Finally, mitigating the severity of cases, SNPs rs1799988 and rs1800023 obtained significant attribution in individuals in the studied populations. It is shown that the reported polymorphisms express significant influences for the evaluation of diagnostic, therapeutic, and prophylactic measures for HIV-1 having fundamental particularities in the molecular, genetic, and transcriptional aspects of CCR5 .

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“…(F) SDOH shape HIV outcomes for several generations through three types of intergenerational influence. 67,69,[134][135][136][137] (G) SDOH shape the clustering of multiple cooccurring epidemics, which amplifies exposures and susceptibilities associated with increased HIV transmission. 25,138,139 (H) Social injustice shapes HIV inequities directly and in interaction with systematic differences in other SDOH.…”

Section: Unjust Social Processes Shape Sdoh Mechanisms To Produce Hea...mentioning

confidence: 99%

Conceptualizing the Mechanisms of Social Determinants of Health: A Heuristic Framework to Inform Future Directions for Mitigation

2023

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A large body of scientific work examines the mechanisms through which social determinants of health (SDOH) shape health inequities. However, the nuances described in the literature are infrequently reflected in the applied frameworks that inform health policy and programming. We synthesize extant SDOH research into a heuristic framework that provides policymakers, practitioners, and researchers with a customizable template for conceptualizing and operationalizing key mechanisms that represent intervention opportunities for mitigating the impact of harmful SDOH. In light of scarce existing SDOH mitigation strategies, the framework addresses an important research‐to‐practice translation gap and missed opportunity for advancing health equity. Context The reduction of health inequities is a broad and interdisciplinary endeavor with implications for policy, research, and practice. Health inequities are most often understood as associated with the social determinants of health (SDOH). However, policy and programmatic frameworks for mitigation often rely on broad SDOH domains, without sufficient attention to the operating mechanisms, and effective SDOH mitigation strategies remain scarce. To expand the cadre of effective SDOH mitigation strategies, a practical, heuristic framework for policymakers, practitioners, and researchers is needed that serves as a roadmap for conceptualizing and targeting the key mechanisms of SDOH influence. Methods We conduct a critical review of the extant conceptual and empirical SDOH literature to identify unifying principles of SDOH mechanisms and to synthesize an integrated framework for conceptualizing such mechanisms. Findings We highlight eight unifying principles of SDOH mechanisms that emerge from landmark SDOH research. Building on these principles, we introduce and apply a conceptual model that synthesizes key SDOH mechanisms into one organizing, heuristic framework that provides policymakers, practitioners, and researchers with a customizable template for conceptualizing and operationalizing the key SDOH mechanisms that represent intervention opportunities to maximize potential impact for mitigating a given health inequity. Conclusions Our synthesis of the extant SDOH research into a heuristic framework addresses a scarcity of peer‐reviewed organizing frameworks of SDOH mechanisms designed to inform practice. The framework represents a practical tool to facilitate the translation of scholarly SDOH work into evidence‐based and targeted policy and programming. Such tools designed to close the research‐to‐practice translation gap for effective SDOH mitigation are sorely needed, given that health inequities in the United States and in many other parts of the world have widened over the past two decades.

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The CCR5-Delta32 genetic polymorphism and HIV-1 infection susceptibility: a meta-analysis

Cited by 20 publications

References 39 publications

Regulatory Noncoding and Predicted Pathogenic Coding Variants of CCR5 Predispose to Severe COVID-19

Regulatory Noncoding and Predicted Pathogenic Coding Variants of CCR5 Predispose to Severe COVID-19

The Influence Between C-C Chemokine Receptor 5 Genetic Polymorphisms and the Type-1 Human Immunodeficiency Virus: A 20-Year Review

Conceptualizing the Mechanisms of Social Determinants of Health: A Heuristic Framework to Inform Future Directions for Mitigation

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