TLR7 Gln11Leu single nucleotide polymorphism and susceptibility to cutaneous melanoma

Elefanti, Lisa; Sacco, Giuseppe; Stagni, Camilla; Rastrelli, Marco; Menin, Chiara; Russo, Irene; Alaibac, Mauro

doi:10.3892/ol.2016.4584

Cited by 5 publications

(5 citation statements)

References 46 publications

(72 reference statements)

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“…In our study, the prevalence of TLR7 rs179008 AA, AT, and TT genotypes in healthy controls was 81.0%, 16.5%, and 2.5%. This finding was unmatched with that of the other studies carried out by [12,13,29,14]. The occurrence of TLR7 rs179008A/T allelic frequency was comparable with the study carried out by Valverde-Villegas et al, 2017, [30,6,16] and dissimilar with the study reported by [6,12,13,29].…”

Section: Discussionsupporting

confidence: 80%

“…We had observed a nonsignificant distribution of TLR7 rs179008 polymorphism between HIV-infected individuals and healthy controls, although TLR7 rs179008AT genotype was much more prevalent in HIV-infected individuals as While as an association was seen between TLR7 rs179009AG genotype and acquisition of HIV-1 (OR = 0:42, P = 0:016), TLR7rs179008A/T polymorphism was associated with susceptibility to asthma [17], course of hepatitis C infection [12], HIV-1 acquisition, and disease progression [6]. TLR7 rs179008 polymorphism was not associated with patients of basal cell carcinoma (BCC) [12], melanoma cases (P = 0:245), and between single melanoma and MPM cases (P = 0:482) [14]. TLR7 IVS2-151G/A allele was associated with the protection of female patients of chronic hepatitis C (P ≤ 0:001, OR =0.46) [15].…”

Section: Discussionmentioning

confidence: 99%

“…Some of the studies reported that the functional polymorphism of TLR7 rs179008, Gln11Leu was associated with HIV acquisition [10], higher viral loads and accelerated progression to advanced immune suppression in HIV patients [6], hepatitis C infection [11], basal cell carcinoma (BCC) [12], female HCV patients, and spontaneous clearance of HCV [13]. Elefanti et al, [14] have been reported that TLR7 32A/T polymorphism was not associated with melanoma cases. Similarly, TLR7 rs179009, IVS2-151A/G polymorphism was associated with spontaneous clearance of HCV in female patients [13] and chronic hepatitis C [15].…”

Section: Introductionmentioning

confidence: 99%

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TLR7 Polymorphism (rs179008 and rs179009) in HIV-Infected Individual Naïve to ART

Singh

Samani

Aggarwal

2020

Mediators of Inflammation

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Toll-like receptors (TLRs) play an important role in the innate immune response to HIV infection. Single nucleotide polymorphism (SNP) in TLR7 (Gln11Leu) gene has been associated with a rapid decline of CD4T cell count. Hence, we assessed the TLR7 (rs179008, Gln11Leu (A/T) and rs179009, IVS2-151 (A/G)) polymorphism in 150 HIV-infected individuals naïve to ART and 158 healthy controls. The genotyping of TLR7 Gln11Leu (A/T) and IVS2-151 (A/G) polymorphisms was done using the PCR-RFLP method. In univariate analysis, none of the genotype and haplotype of TLR7 Gln11Leu (A/T) and IVS2-151 (A/G) polymorphism differed significantly between HIV-infected individuals and healthy controls. The occurrence of TLR7 rs179009AG genotype in the codominant model and rs179009 AG-GG genotype in the dominant model was significantly reduced in HIV-infected individuals as compared to healthy controls (18.0% vs. 29.1%, OR=0.42, P=0.016; 26.7% vs. 36.7%, OR=0.52, P=0.016). TLR7 rs179009AG genotype was significantly underrepresented in the intermediate HIV disease stage compared with healthy controls (OR=0.03, P=0.04). TLR7 rs179009AG genotype expressed higher in tobacco-consuming HIV-infected individuals compared with nonusers (OR=1.71, P=0.47). In conclusion, rs179009 AG-GG and AG genotypes were found reduced in HIV-infected individuals as compared to healthy controls; their higher prevalence in health individuals clearly support that they are associated with reduced risk of acquisition of HIV-1 infection.

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Section: Discussionsupporting

confidence: 80%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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TLR7 Polymorphism (rs179008 and rs179009) in HIV-Infected Individual Naïve to ART

Singh

Samani

Aggarwal

2020

Mediators of Inflammation

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“…Chromosomal aberrations or nucleotide polymorphisms affect pathways involved in tumor formation and progression in breast cancer or cutaneous melanoma ( 37 , 38 ). However, the present study was unable to identify chromosomal alterations and detected only a few nucleotide variations in m Cyld −/− compared with m Cyld +/+ cells.…”

Section: Discussionmentioning

confidence: 99%

Impact of CYLD on chromatin structure and histone methylation in malignant melanoma

et al. 2022

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The tumor suppressive role of cYLd lysine 63 deubiquitinase (CYLD) is known in melanoma. To the best of our knowledge, however, the precise mechanism underlying the tumor suppressive function of CYLD has yet to be clarified. In the present study, a novel melanoma mouse model was generated, which revealed accelerated tumor growth in Cyld-knockout (Cyld -/-) compared with Cyld-wild-type (Cyld +/+ ) mice. To determine the underlying molecular mechanism, mutation analysis of primary tumor-derived cell lines from Cyld +/+ and Cyld -/mice was performed using RNA sequencing data. Variant calling revealed no common mutations in Cyld -/compared with Cyld +/+ cells. Thus, the epigenetic processes influencing development and progression of melanoma were investigated. Initial analysis of expression pattern of known hypermethylated genes in melanoma (suppressor of cytokine signalling, methylthioadenosine phosphorylase, cadherin 1) in the presence or absence of 5'-Aza-deoxyctidine treatment revealed that CYLD does not play a key role in dNA methylation. chromatin accessibility and histone H3 modification assay uncovered a role of CYLD in the formation of chromatin structure. Subsequent inhibitor experiments confirmed the effect of cYLd on H3K9me2 level associated with heterochromatin. Furthermore, enhanced H3K9 dimethylation in Cyld -/melanoma cells was associated with upregulation of euchromatic histone lysine methyltransferase 2 (EHMT2). Moreover, the specific inhibitor of EHMT2, CM272, resulted in decreased proliferation and relaxation of compact chromatin in Cyld-deficient melanoma cells. These results reveal a novel role of CYLD in histone methylation and chromatin packaging.

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“…ln11Leu polymorphism and susceptibility to develop melanoma was found. Further, other studies on TLR polymorphisms and their susceptibility to malignant melanoma are needed [131].…”

Section: Melanomamentioning

confidence: 99%

TLR and Cancer: The Enigmatic Cross Talk

Fehri,

Ennaifer,

Ardhaoui

et al. 2024

Thirty Years Since the Discovery of Toll-Like Receptors

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The connection between inflammation and cancer has been well recognized at the epidemiological, biological, and pharmacological levels. Unresolved chronic inflammation is implicated in most stages of cancer development and thus can induce certain solid tumors. The molecular regulators of these linkages are emerging and should be well-decorticated. Toll-like receptors (TLRs) recognize pathogen/microbe-associated molecular patterns (PAMPs/MAMPs) and death–associated molecular patterns (DAMPs) secreted from dying or damaged cells of the host. TLRs can be pro and anti-tumorigenic depending on the type of TLR signaling, cancer, and its stage. Therefore, comprehensive studies are required in this direction. The current chapter supplies a concise schematic concerning the biology and the characteristics of TLRs and summarizes the major findings of the enigmatic role of TLRs and their associated signaling in the pathogenesis of human cancers. On one hand and in some neoplastic contexts, TLR activation mediates proliferation invasion, migration and correlates with poor prognosis and metastasis, and inhibits apoptosis, leading to cancer progression. On the other hand and depending on other neoplastic context, TLRs agonists enhance radiosensitivity and chemotherapy, apoptosis, immune cell infiltration, and raise the antitumor effect of T cells.

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TLR7 Gln11Leu single nucleotide polymorphism and susceptibility to cutaneous melanoma

Cited by 5 publications

References 46 publications

TLR7 Polymorphism (rs179008 and rs179009) in HIV-Infected Individual Naïve to ART

TLR7 Polymorphism (rs179008 and rs179009) in HIV-Infected Individual Naïve to ART

Impact of CYLD on chromatin structure and histone methylation in malignant melanoma

TLR and Cancer: The Enigmatic Cross Talk

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