RESUMEN
BACKGROUND: Factors contributing to the pathogenesis of vitiligo and factors affecting its response to treatment are still a major area of debate. AIM OF THE WORK: The study aimed to assess the serum levels of tyrosinase and Micro-RNAs (miRNAs) gene polymorphism in a sample of Egyptian vitiligo patients, and to determine factors affecting the response of vitiligo to treatment. SUBJECTS AND METHODS: This prospective case-control interventional study included 212 non-segmental vitiligo patients and 96 control subjects. Before treatment, vitiligo was evaluated using Vitiligo Area Severity Index. Detection of miRNA 196a-2 polymorphism was done using PCR-REELP and serum tyrosinase was measured using ELISA. After treatment, patients were reevaluated clinically and serum tyrosinase levels were re-measured. RESULTS: The tyrosinase levels were significantly elevated in patients. The TT genotype was the most prevalent one in the patients. The percentage of improvement showed a significant positive correlation with patients' ages and age of the disease onset and a negative correlation with disease duration, baseline VASI scores and serum tyrosinase levels. CONCLUSION: MiRNA 196a-2 C/T (11614913) gene polymorphism and the elevated serum tyrosinase levels might be related to the pathogenesis of vitiligo and may affect its therapeutic response.
Asunto(s)
MicroARNs , Vitíligo , Autoanticuerpos/análisis , Autoanticuerpos/genética , Estudios de Casos y Controles , Humanos , MicroARNs/genética , Monofenol Monooxigenasa/genética , Polimorfismo Genético , Vitíligo/genética , Vitíligo/terapiaRESUMEN
Background: miRNAs are small non-coding RNAs with potential roles in the complications of pregnancy. We hypothesised links between polymorphisms in miRNA-196a2 and miRNA-499 in maternal blood and the placentas of patients with preeclampsia. Methods: The blood of 315 women with preeclampsia and 317 controls and the placentas of 103 PE and 133 healthy women were collected. The genotyping of both polymorphisms was performed by PCR-RFLP. Results: The maternal blood rs11614913 was unrelated to preeclampsia in genotype and allele models, but in placental tissue, the CT (odds ratio [95% CI] 0.5 [0.3-0.9, p = 0.018) and TT (0.4 [0.2-0.9] p = 0.033) genotypes alone and together (CT+TT v CC 0.5 [0.3-0.8] p = 0.009), and the T allele (0.6 [0.4-0.9], p = 0.019) were associated with lower risk of preeclampsia. The maternal blood rs3746444 CC genotype was more frequent in preeclampsia (2.2 [1.2-3.8] p = 0.008) and the recessive model (CC v TC+TT) was also significant (1.9 [1.1-3.3], p = 0.018), as was the C allele (1.4 [1.1-1.7] p = 0.014). In placental tissue, the increase in the frequency of the CC genotype was marginally significant (2.4 [1.0-5.8] p = 0.046). The maternal or placental miRNA-196a2 rs11614913 and miRNA-499 rs3746444 polymorphisms were unrelated to the severity of preeclampsia. Conclusion: The placental but not maternal miRNA-196a2 rs11614913 variant could be a protective factor for preeclampsia predisposition in all models except the recessive model. The maternal/placental rs3746444 CC genotype was in association with higher preeclampsia risk.
Asunto(s)
Predisposición Genética a la Enfermedad/genética , MicroARNs/genética , Placenta/metabolismo , Polimorfismo de Nucleótido Simple/genética , Preeclampsia/genética , Adulto , Alelos , Estudios de Casos y Controles , Femenino , Genotipo , Humanos , Oportunidad Relativa , Embarazo , RiesgoRESUMEN
microRNAs' (miRNAs) loci may influence hepatocellular carcinoma (HCC) development. Many recent studies have assessed the relationship between miRNA-499, miRNA-146a, and miRNA-196a2 loci and HCC risk. However, the observed results are conflicting. A total of 584 HCC patients and 923 age- and sex-matched controls were recruited. The correlation of miRNA-499 rs3746444, miRNA-146a rs2910164, and miRNA-196a2 rs11614913 with HCC development was assessed. In the <53-year-old subgroup, a correlation of the rs2910164 locus with HCC risk was found (GG/CG vs. CC: adjusted p = 0.011, GG vs. CC: adjusted p = 0.021 and CG vs. CC: adjusted p = 0.027). The association between miRNA-146a rs2910164 and the risk of HCC was also found in the never smoking (GG/CG vs. CC: adjusted p = 0.011 and CG vs. CC: adjusted p = 0.018). Using false-positive report probability method and power value, we identified that miRNA-146a rs2910164 conferred a risk to HCC in the <53-year-old and never-smoking subgroups. In conclusion, this study indicates rs2910164 may be a risk factor for HCC, especially in the <53-year-old and never-smoking subgroups.
Asunto(s)
Carcinoma Hepatocelular/genética , Neoplasias Hepáticas/genética , MicroARNs/genética , Polimorfismo de Nucleótido Simple , Adulto , Factores de Edad , Anciano , Carcinoma Hepatocelular/epidemiología , Estudios de Casos y Controles , Femenino , Humanos , Neoplasias Hepáticas/epidemiología , Masculino , Persona de Mediana Edad , Fumar/epidemiologíaRESUMEN
BACKGROUND: miRNAs play important roles in a variety of diseases. Thus, the association between miRNA-196a2 rs11614913 T>C polymorphism and Kawasaki disease susceptibility is still unknown. METHODS: We included 532 children with Kawasaki disease and 623 healthy children from South China, and their DNA was extracted for genotyping by TaqMan methodology. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to estimate the strength of association. RESULTS: No significant associations were observed between the miRNA-196a2 rs11614913 T>C polymorphisms and Kawasaki disease risk (TC vs TT: adjusted OR = 1.04, 95% CI = 0.79-1.37; CC vs TT: adjusted OR = 0.87, 95% CI = 0.63-1.21; dominant model: adjusted OR = 0.99, 95% CI = 0.76-1.27; and recessive model: adjusted OR = 0.85, 95% CI = 0.64-1.13). There was also no significant correlation found in stratified analyses. CONCLUSION: This study suggests that miRNA-196a2 rs11614913 T>C may not be associated with Kawasaki disease susceptibility in a southern Chinese population. Larger, multicenter studies are needed to confirm our conclusions.
Asunto(s)
Pueblo Asiatico/genética , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , MicroARNs/genética , Síndrome Mucocutáneo Linfonodular/genética , Polimorfismo de Nucleótido Simple/genética , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , MicroARNs/metabolismoRESUMEN
The miRNA-196a2 has shown significance in the development of various neoplasms, including head and neck squamous cell carcinoma (HNSCC). The oncogenic functionality of this miRNA is mediated via its potential to target annexin A1 mRNA, a tumor suppressor gene involved in inhibition of the NF-κB pathway. Interestingly, recent data indicate a susceptibility for aforementioned neoplasms in patients with the CC genotype vs the CT and TT genotypes of the rs11614913 SNP located within the DNA sequence of the miR-196a2 that results in elevated expression of the gene. To further investigate this phenomenon, we genotyped this SNP in 40 patients with laryngeal squamous cell carcinoma (LSCC), the most common tumor of the head and neck region and 60 patients with salivary gland tumors (SGT) that show a yet unexplained incidence increase in the last two decades. In agreement with previous reports, we have identified a statistically significant (p < 0.05) overrepresentation of the CC genotype in LSCC patients and demonstrated in LSCC cell lines that it results in elevated expression of miR-196a2 as compared to cell lines with the TT genotype of the respective SNP. Importantly, none of these correlations was found in patients with SGT. These findings underline the importance of the SNP rs11614913 for LSCC development in the Polish population and moreover highlight the different genetic background of the two studied neoplasms of the head and neck region.