The Genetic Associations and Epistatic Effects of the<i>CCR5</i>Promoter and<i>CCR2</i>-V64I Polymorphisms on Susceptibility to HIV-1 Infection in a Northern Han Chinese Population

Lu, Jiapeng; Sheng, Ai-juan; Wang, Youxin; Wu, Jingjing; Song, Manshu; He, Yan; Yu, Xinwei; Zhao, Fei; Liu, Yezhou; Shao, Shuang; Lan, Jie; Wu, Hao; Wang, Wei

doi:10.1089/gtmb.2012.0235

Cited by 6 publications

(6 citation statements)

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“…In this sense, the SNPs that had this associative character were as follows: T mutant allele of rs1800024 in Chinese population; 58 C mutant allele of rs1799988 in North and South Korean populations; 51 the A wild allele of rs1800023 in Indian population; 48 the A wild allele of rs1799987 in the U.S. population; 45 the A mutant allele of rs1800023 in Japanese population; 38 C wild allele of rs41469351 in Indian population; 63 the A wild allele of rs1799987 in Papua New Guinea, the United States, Senegal, Guinea, Sierra Leone, Ivory Coast, and Ghana populations; the A wild allele of rs1799987 in the U.S. population; 64 the GG genotype of rs1799987 in Cameroon population. 59 The SNP most often associated with susceptibility was rs1799987, present in four studies (12.5%), under the presence of the wild-type A allele.…”

Section: Discussionmentioning

confidence: 99%

“…However, the polymorphisms that had an associative character with HIV-1 protection were the SNPs: G mutant allele of rs2856758 in Chinese population; 58 G mutant allele of rs1799987 in Polish population; 53 G mutant allele of rs1799987 in Indian population. 54 The SNP most associated with protection was also rs1799987, in two of the three studies of resistance conferred to infection (75%), under presence of the G mutant allele.…”

Section: Discussionmentioning

confidence: 99%

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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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Section: Discussionmentioning

confidence: 99%

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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show abstract

“…These two variants (represented by the HHF*2 haplotype) have been seen to associate with lower viral loads in an African population but did not have a significant association with transmission [3], and a significant association with decreased transmission was observed in a Columbian cohort [35]. However, a study in a Chinese population found a significant association with increased transmission for the CCR5 rs1800024 variant and a non-significant but similarly oriented association for the CCR2 allele [36]. It is very likely that the genetic background in different ethnic groups is a strong modifier on the association of these variants with risk of transmission, and should be studied in greater depth.…”

Section: Discussionmentioning

confidence: 99%

Analysis of Social and Genetic Factors Influencing Heterosexual Transmission of HIV within Serodiscordant Couples in the Henan Cohort

Zhu

Zhang

et al. 2015

PLoS ONE

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There is considerable variability between individuals in susceptibility to infection by human immunodeficiency virus (HIV). Many social, clinical and genetic factors are known to contribute to the likelihood of HIV transmission, but there is little consensus on the relative importance and potential interaction of these factors. Additionally, recent studies of several variants in chemokine receptors have identified alleles that may be predictive of HIV transmission and disease progression; however the strengths and directions of the associations of these genetic markers with HIV transmission have markedly varied between studies. To better identify factors that predict HIV transmission in a Chinese population, 180 cohabiting serodiscordant couples were enrolled for study by the Henan Center for Disease Prevention and Control, and transmission and progression of HIV infection were regularly measured. We found that anti-retroviral therapy, education level, and condom use were the most significant factors in determining likelihood of HIV transmission in this study. We also assessed ten variants in three genes (CXCL12, CCR2, and CCR5) that have been shown to influence HIV transmission. We found two tightly linked variants in CCR2 and CCR5, rs1799864 and rs1800024, have a significant positive association with transmission as recessive models (OR>10, P value=0.011). Mixed effects models showed that these genetic variants both retained significance when assessed with either treatment or condom use. These markers of transmission susceptibility may therefore serve to help stratify individuals by risk for HIV transmission.

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“…This gene is located on chromosome 3 in proximity to the CCR5 gene. A mutation in the coding region of the CCR2 gene, V64I, has shown to be in strong linkage disequilibrium with the mutation −1835T in the promoter region of the CCR5 gene (Kostrikis et al ., ; Lu et al ., ).…”

Section: Introductionmentioning

confidence: 97%

New genetic variants in the CCR5 gene and the distribution of known polymorphisms in Omani population

Al-Mahruqi

Zadjali

Koh

et al. 2013

Int J Immunogenetics

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C-C motif chemokine receptor-5 (CCR5) is a pro-inflammatory receptor that binds to chemokines and facilitates the entry of the R5 strain of HIV-1. A number of polymorphisms were identified within the promoter and coding regions of the CCR5 gene, some of which have been found to affect the protein expression and thus receptor function. Although several CCR5 polymorphisms were shown to vary widely in their distribution among different ethnic populations, there has been no study addressing the potential variants of the CCR5 gene in the Omani population. The aim of this study was to identify the polymorphic sites that exist within the CCR5 gene in Omanis. Blood samples were collected from 89 Omani adult individuals, and genomic DNA was amplified by polymerase chain reaction and sequenced to identify the polymorphic sites. The distribution of the detected variants was examined and compared with the previously published data. Four new indels were detected of 32 variable positions, -2973A/-, -2894A/-, -2827TA/- and -2769T/-, and all were located in the 5'UTR. Furthermore, two new mutations, -2248G/A and +658A/G, were observed for the first time; the -2248G/A was detected in the intron 1 region in one subject and +658A/G in the coding region of the CCR5 in another subject. In silico analysis showed that the novel variations in the 5'UTR may have effects on the transcription factor binding sites. Therefore, this study demonstrates the presence of two new SNPs and four novel indels in the CCR5 gene in the Omani population. Our findings support the wide spectrum of genetic diversity reported within the CCR5 gene region among different ethnic groups.

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The Genetic Associations and Epistatic Effects of theCCR5Promoter andCCR2-V64I Polymorphisms on Susceptibility to HIV-1 Infection in a Northern Han Chinese Population

Cited by 6 publications

References 40 publications

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

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

Analysis of Social and Genetic Factors Influencing Heterosexual Transmission of HIV within Serodiscordant Couples in the Henan Cohort

New genetic variants in the CCR5 gene and the distribution of known polymorphisms in Omani population

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