Dataset Information

Association between Toll-like receptor 7 Gln11Leu single-nucleotide polymorphism and basal cell carcinoma.

ABSTRACT: Non-melanoma skin cancers (NMSC) are the most common form of human skin cancer. The majority of NMSC are basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) with a BCC:SCC incidence ratio of 4:1 in immunocompetent patients. Toll-like receptors (TLRs) are transmembrane glycoproteins that recognize pathogen-associated molecular patterns and damage-associated molecular patterns, against which they activate the innate immune response and initiate the adaptive immune response. Genetic variations of these receptors can alter the immune system and are involved in evolution and susceptibility of various diseases, including cancer. Imiquimod, an agonist of TLR7, is applied topically in the treatment of premalignant and malignant skin disorders, in particular BCC. The high efficacy of this TLR7 agonist toward BCC supports a possible role of this receptor in the induction of BCC and, consequently, polymorphisms of this receptor could be responsible for a greater or lesser susceptibility to BCC. The aim of the present study was to evaluate whether the presence of the functional TLR7 rs179008/Gln11Leu promoter polymorphism conferred an increased susceptibility to BCC. A case-control study with 177 BCC cases and 158 controls was performed to highlight the possible association between this polymorphism and the susceptibility to BCC. As the TLR7 gene is localized on chromosome X, the allelic frequency of this polymorphism was analyzed separately in males and females. The analysis of the distribution of frequencies of wild-type TLR7 and variant TLR7 carrying the single-nucleotide polymorphism (SNP) rs179008 in patients with BCC and healthy subjects did not reveal any statistically significant difference between cases and controls. This study does not suggest the involvement of the SNP rs179008 of TLR7 in the susceptibility to BCC, but cannot exclude a role for TLR7 in BCC carcinogenesis considering the high efficacy of the TLR7 agonist, imiquimod, in the treatment of this neoplastic disorder.

SUBMITTER: Russo I

PROVIDER: S-EPMC4812152 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature

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Association between Toll-like receptor 7 Gln11Leu single-nucleotide polymorphism and basal cell carcinoma.

Russo Irene I Cona Camilla C Saponeri Andrea A Bassetto Franco F Baldo Vincenzo V Alaibac Mauro M

Biomedical reports 20160215 4

Non-melanoma skin cancers (NMSC) are the most common form of human skin cancer. The majority of NMSC are basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) with a BCC:SCC incidence ratio of 4:1 in immunocompetent patients. Toll-like receptors (TLRs) are transmembrane glycoproteins that recognize pathogen-associated molecular patterns and damage-associated molecular patterns, against which they activate the innate immune response and initiate the adaptive immune response. Genetic variat ...[more]

PMID: 27073632

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Project description:The association between growth differentiation factor 5 (GDF5), single nucleotide polymorphism (SNP) rs143383 and lumbar disc degeneration (LDD) was investigated. A total of 210 patients with LDD (observation group) and 320 patients without lumbar diseases (control group) diagnosed in Shanghai General Hospital of Nanjing Medical University from August 2013 to March 2017 were randomly selected. Then, deoxyribonucleic acid (DNA) was extracted from the blood of each patient, and Taq-man fluorescent quantitative polymerase chain reaction (qPCR) technique was used to detect rs143383 in GFD5 gene. The frequency of different genotypes in observation group and control group was counted, and the associations between different SNP genotypes and the incidence of LDD were analyzed. Good genotyping results were found in both LDD patient group and control group. There were no significant differences in distribution frequency of TT and TC genotypes at site rs143383 between LDD patient group and control group (P>0.05), but the distribution frequency of CC genotype at site rs143383 in LDD patient group had a statistically significant difference from that in control group (P<0.05). In dominant models, odds ratio (OR) of (TC+CC/TT) was 1.195 (P=0.532). In recessive models, OR of (CC/TT+TC) was 4.333 (P=0.028). In co-dominant models, ORs of (TC/TT) and (CC/TT) were 0.967 and 4.43, respectively (P=0.99). The differences in 3 genotypes showed no statistical significance among different pathological grades (Grade I to V) (?2=1.034, P=0.998), and there was no statistically significant difference in T and C (?2=0.012, P=0.999). Pathological grades in dominant models, recessive models and over dominant models were analyzed, and no statistically significant difference was found (P>0.05). In conclusion, CC mutant type at rs143383 in GDF5 gene has a strong association with the incidence of LDD, and a high prevalence risk, but it has no evident correlation with pathological grades.

Project description:Tuberculosis (TB), caused by mycobacterial species of the Mycobacterium tuberculosis complex, is a serious global health issue. Brazil is among the 22 countries with the highest number of TB cases, and the state of Amazonas has the highest incidence of TB cases in the country. Toll-like receptors (TLRs) are important pattern recognition receptors of the innate immunity and play a key role in orchestrating an effective immune response. We investigated whether the single-nucleotide polymorphisms (SNPs) 1805T/G TLR1, 2258G/A TLR2, 896A/G and 1196C/T of TLR4, 745T/C TLR6, and -1237A/G and -1486A/G of TLR9 are associated with the predisposition to TB and/or bacillary load. The SNPs genotyping was performed by nucleotide sequencing in 263 TB patients and 232 healthy controls residing in the state of Amazonas. Alleles and genotypes frequencies were similar between patients and healthy individuals for most of the investigated SNPs. Stratification of the TB patients according to their bacillary load showed that the genotype 1805TT TLR1 (rs5743618) was prevalent among paucibacillary patients [odds ratio (OR) = 0.38; 95% confidence interval (CI) = 0.19-0.76; p = 0.009] while the genotype 1805TG was common among multibacillary patients (OR = 3.72; CI = 1.65-8.4; p = 0.004). Comparison of demographic characteristics of patients to controls showed that TB is strongly associated with smoking (OR = 6.55; 95% CI = 3.2-13.6; p < 0.0001); alcohol use disorder (OR = 7.14; 95% CI = 3.7-13.9; p < 0.0001); and male gender (OR = 3.66; 95% CI = 2.52-5.3; p < 0.0001). Multivariate logistic regression demonstrated that alcoholism (OR = 2.93; 95% CI = 1.05-8.16; p = 0.03) and the 1805G allele (OR = 2.75; 95% CI = 1.33-5.7; p = 0.006) are predictive variables for multibacillary TB. Altogether, we suggest that the TLR1 1805G allele may be a relevant immunogenetic factor for the epidemiology of TB together with environmental, sociodemographic, and behavioral factors.

Dataset Information

Association between Toll-like receptor 7 Gln11Leu single-nucleotide polymorphism and basal cell carcinoma.

Publications

Association between Toll-like receptor 7 Gln11Leu single-nucleotide polymorphism and basal cell carcinoma.

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