Cytokine gene polymorphism associations with congenital cytomegalovirus infection and sensorineural hearing loss

Kasztelewicz, Beata; Czech‐Kowalska, Justyna; Lipka, B.; Milewska-Bobula, Bogumiła; Borszewska−Kornacka, Maria Katarzyna; Romańska, Justyna; Dzierżanowska-Fangrat, Katarzyna

doi:10.1007/s10096-017-2996-6

Cited by 17 publications

(33 citation statements)

References 35 publications

(36 reference statements)

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“…For example, the CCR5 promoter polymorphism rs1800023 affects CMV replication (Bravo et al, 2014;Corrales et al, 2015). In a study evaluating children, Kasztelewicz et al (2017) found no influence of CCR5Δ32 on susceptibility to congenital CMV infection, severity of congenital CMV disease, or CMV-related sensorineural hearing loss at birth. As an individual genetic factor, CCR5Δ32 was not statistically associated with the progression of CMV retinitis, a condition that CMV can cause in immunocompromised individuals (Sezgin et al, 2011) (Table 6).…”

Section: Human Cytomegalovirusmentioning

confidence: 99%

Beyond HIV infection: Neglected and varied impacts of CCR5 and CCR5Δ32 on viral diseases

et al. 2020

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The interactions between chemokine receptors and their ligands may affect susceptibility to infectious diseases as well as their clinical manifestations. These interactions mediate both the traffic of inflammatory cells and virus-associated immune responses. In the context of viral infections, the human CC chemokine receptor type 5 (CCR5) receives great attention from the scientific community due to its role as an HIV-1 co-receptor. The genetic variant CCR5Δ32 (32 base-pair deletion in CCR5 gene) impairs CCR5 expression on the cell surface and is associated with protection against HIV infection in homozygous individuals. Also, the genetic variant CCR5Δ32 modifies the CCR5-mediated inflammatory responses in various conditions, such as inflammatory and infectious diseases. CCR5 antagonists mimic, at least in part, the natural effects of the CCR5Δ32 in humans, which explains the growing interest in the potential benefits of using CCR5 modulators for the treatment of different diseases. Nevertheless, beyond HIV infection, understanding the effects of the CCR5Δ32 variant in multiple viral infections is essential to shed light on the potential effects of the CCR5 modulators from a broader perspective. In this context, this review discusses the involvement of CCR5 and the effects of the CCR5Δ32 in human infections caused by the following pathogens: West Nile virus, Influenza virus, Human papillomavirus, Hepatitis B virus, Hepatitis C virus, Poliovirus, Dengue virus, Human cytomegalovirus, Crimean-Congo hemorrhagic fever virus, Enterovirus, Japanese encephalitis virus, and Hantavirus. Subsequently, this review addresses the impacts of CCR5 gene editing and CCR5 modulation on health and viral diseases. Also, this article connects recent findings regarding extracellular vesicles (e.g., exosomes), viruses, and CCR5. Neglected and emerging topics in "CCR5 research" are briefly described, with focus on Rocio virus, Zika virus, Epstein-Barr virus, and Rhinovirus. Finally, the potential influence of CCR5 on the immune responses to coronaviruses is discussed.

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Section: Human Cytomegalovirusmentioning

confidence: 99%

Beyond HIV infection: Neglected and varied impacts of CCR5 and CCR5Δ32 on viral diseases

et al. 2020

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“…In the case of SSNHL also elevated levels of TNF α, IL2, IL8, and IL6 has been reported (52), which are also likely to be induced by CMV infection. Two recent studies in very small samples have shown evidences of mutation in IFNLR1 to be associated with Autosomal Dominant NSHL (53) and CCL2 variants rs31900 and rs1024611 to be risk variants in etiology of CMV associated sensorineural hearing loss (54). These facts indicate that the balance of cytokines is crucial in cochlea and cochlea is highly vulnerable to inflammation.…”

Section: Cytokine Imbalance and Predisposition Riskmentioning

confidence: 98%

An Immunological Perspective to Non-syndromic Sensorineural Hearing Loss

Sindura

Banerjee

2019

Front. Immunol.

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Conventionally the etiology of congenital Non-Syndromic Hearing Loss has been attributed to mutations in the genes involved in ion homeostasis or the structural compartments of the inner ear. However, this contributes to only a part of the problem, as still the determinants for a large majority of the Non-Syndromic Hearing loss seems to be an enigma. Evidences indicate that pathogens like Rubella, Cytomegalovirus, and many other infections can also result in congenital hearing loss. Additionally, there are variety of factors other than the viral mediators, that can act as stressors to trigger an altered immune response, during the gestational period of the mother. It is also known that non-specific stimulation of the immune system can mimic an infection status. This indicates a strong role for environmental factors toward their contribution to the pathology, possibly by influencing the host immune response. These varieties of known or unknown environmental factors interact with the susceptible variants in immune response genes in defining the threshold for protection or infection in an individual. Considering this background we propose to present this perspective that threshold of the host immune response during the prenatal conditions, in response to environmental stimulus, might be determined by the susceptible variants in immune response genes. This in turn can directly or indirectly influence the genes involved in maintaining the structural components or ion homeostasis, resulting in hearing loss. The threshold of immune response alterations may be heavily dependent on the immunogenetic profile of the mother or the fetus.

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“…As host genetic variants in cytokine-related genes were shown to influence susceptibility to HCMV infection and disease in transplant patients and patients with AIDS, several congenital infection studies also investigated the association of cytokine and cytokine receptor variants on HCMV susceptibility. Kasztelewicz et al (2017) compared the allelic distribution of 11 candidate SNPs in eight genes (TNF rs1799964 and rs1800629, TNFRSF1A rs4149570, IL-1B rs16944 and rs1143634, IL-10 rs1800896, IL-10RA rs4252279, IL-12B rs3212227, CCL2 rs1024611 and rs13900, CCR5 rs333) between a group of infants (n = 72) with confirmed intrauterine CMV infection and 398 uninfected controls. IL-1B (rs16944) and TNF (rs1799964) variants were significantly associated with intrauterine HCMV infection.…”

Section: Host Genetics Of Vertical Hcmv Transmissionmentioning

confidence: 99%

“…IL-1B (rs16944) and TNF (rs1799964) variants were significantly associated with intrauterine HCMV infection. Moreover, they identified CCL2 (rs13900) as a genetic risk factor for hearing loss at birth and at 6 months of age (Kasztelewicz et al, 2017). Wujcicka et al examined the effects of fetal and maternal IL-1A, IL-1B, IL-6, IL-12B, and TNFA gene variants on HCMV infection and disease in neonates and fetuses in two independent Polish cohort studies.…”

Section: Host Genetics Of Vertical Hcmv Transmissionmentioning

confidence: 99%

Host Genetics of Cytomegalovirus Pathogenesis

Sezgın

Winkler

2019

Front. Genet.

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Human cytomegalovirus (HCMV) is a ubiquitous herpes virus (human herpes virus 5) with the highest morbidity and mortality rates compared to other herpes viruses. Risk groups include very young, elderly, transplant recipient, and immunocompromised individuals. HCMV may cause retinitis, encephalitis, hepatitis, esophagitis, colitis, pneumonia, neonatal infection sequelae, inflammatory, and age-related diseases. With an arsenal of genes in its large genome dedicated to host immune evasion, HCMV can block intrinsic cellular defenses and interfere with cellular immune responses. HCMV also encodes chemokines, chemokine receptors, and cytokines. Therefore, genes involved in human viral defense mechanisms and those encoding proteins targeted by the CMV proteins are candidates for host control of CMV infection and reactivation. Although still few in number, host genetic studies are producing valuable insights into biological processes involved in HCMV pathogenesis and HCMV-related diseases. For example, genetic variants in the immunoglobulin GM light chain can influence the antibody responsiveness to CMV glycoprotein B and modify risk of HCMV-related diseases. Moreover, CMV infection following organ transplantation has been associated with variants in genes encoding toll-like receptors (TLRs), programmed death-1 ( PD-1 ), and interleukin-12p40 ( IL-12B ). A KIR haplotype (2DS4+) is proposed to be protective for CMV activation among hematopoietic stem cell transplant patients. Polymorphisms in the interferon lambda 3/4 ( IFNL3/4 ) region are shown to influence susceptibility to CMV replication among solid organ transplant patients. Interestingly, the IFNL3/4 region is also associated with AIDS-related CMV retinitis susceptibility in HIV-infected patients. Likewise, interleukin-10 receptor 1 ( IL-10R1 ) variants are shown to influence CMV retinitis development in patients with AIDS. Results from genome-wide association studies suggest a possible role for microtubule network and retinol metabolism in anti-CMV antibody response. Nevertheless, further genetic epidemiological studies with large cohorts, functional studies on the numerous HCMV genes, and immune response to chronic and latent states of infection that contribute to HCMV persistence are clearly necessary to elucidate the genetic mechanisms of CMV infection, reactivation, and pathogenesis.

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Cytokine gene polymorphism associations with congenital cytomegalovirus infection and sensorineural hearing loss

Cited by 17 publications

References 35 publications

Beyond HIV infection: Neglected and varied impacts of CCR5 and CCR5Δ32 on viral diseases

Beyond HIV infection: Neglected and varied impacts of CCR5 and CCR5Δ32 on viral diseases

An Immunological Perspective to Non-syndromic Sensorineural Hearing Loss

Host Genetics of Cytomegalovirus Pathogenesis

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