RESUMEN
Colorectal cancer (CRC) is a multi-factorial disease, and genetic background may contribute to its etiology. Single nucleotide polymorphisms (SNPs) in microRNAs (miRNAs) may be used as specific markers of predisposition for CRC diagnosis and prevention. In this review, we summarize and discuss recent publications evaluating the roles of miRNA SNPs in CRC. A meta-analysis was also carried out to assess the association between the five most frequently studied miRNA SNPs and CRC risk. No relationship was established between this disease and the three SNPs rs11614913, rs2910164, and rs3746444 in miR-196a-2, miR-146a, and miR-499, respectively. However, polymorphisms of miR-149 (rs2292832; CT vs TT: odds ratio [OR] = 0.816, 95% confidence interval [CI] = 0.691-0.963; CC+CT vs TT: OR = 0.834, 95%CI = 0.715-0.972) and pre-miR-27a (rs895819; GG vs AA: OR = 1.534, 95%CI = 1.148-2.049; GG+AG vs AA: OR = 1.324, 95%CI = 1.066-1.645) were found to be associated with CRC in our analysis. In conclusion, the SNPs rs2292832 in miR-149 and rs895819 in pre-miR-27a were associated with CRC susceptibility, whereas rs11614913, rs2910164, and rs3746444 in miR-196a-2, miR-146a, and miR-499, respectively, were not. Further studies should be carried out to validate these findings.
Asunto(s)
Neoplasias Colorrectales/genética , Regulación Neoplásica de la Expresión Génica , MicroARNs/genética , Polimorfismo de Nucleótido Simple , Estudios de Casos y Controles , Neoplasias Colorrectales/diagnóstico , Neoplasias Colorrectales/patología , Predisposición Genética a la Enfermedad , Haplotipos , Humanos , Oportunidad Relativa , Factores de RiesgoRESUMEN
The insertion/deletion polymorphism (rs3783553 TTCA/-) in the 3' untranslated region of interleukin-1A (IL1A) has been studied intensively and has been shown to affect tumor risk. We studied the frequency of the IL1A gene polymorphism rs3783553 and evaluated its relationship with breast cancer (BC). A hospital-based case-control study comprising 228 patients with histologically confirmed BC and 241 healthy subjects was conducted. Polymerase chain reaction was used to detect the IL1A rs3783553 polymorphism. The ins/ins (ttca/ttca) genotype was significantly associated with a decreased risk of BC compared with the del/del (-/-) genotype (OR = 0.48, 95% CI = 0.27-0.85). Moreover, the ins (ttca) allele distribution between cases and controls was significantly different from the del (-) allele distribution (OR = 0.74, 95% CI = 0.57-0.96). Thus, the rs3783553 polymorphism is associated with a decreased incidence of breast cancer.
Asunto(s)
Neoplasias de la Mama/genética , Resistencia a la Enfermedad/genética , Mutación INDEL , Interleucina-1alfa/genética , Polimorfismo Genético , Regiones no Traducidas 3' , Adulto , Alelos , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/inmunología , Neoplasias de la Mama/patología , Estudios de Casos y Controles , Resistencia a la Enfermedad/inmunología , Femenino , Expresión Génica , Frecuencia de los Genes , Humanos , Interleucina-1alfa/inmunología , Persona de Mediana Edad , Pronóstico , RiesgoRESUMEN
Breast cancer (BC) is a common malignancy affecting women, with increasing incidences of this disease in China every year. Recent studies have extensively investigated a single nucleotide polymorphism in the let-7 miRNA binding site of the 3'-untranslated region of KRAS mRNA. The aim of this study was to determine the genotype frequency of the KRAS rs712 polymorphism, and evaluate its effect on BC risk. This hospital-based case-control study comprised 228 patients with histologically confirmed BC and 251 healthy controls. The let-7a KRAS rs712 polymorphism was analyzed by polymerase chain reaction-restriction fragment length polymorphism. We observed no statistically significant association between BC risk and the let-7a KRAS rs712 polymorphism (GT vs GG, OR = 0.98, 95%CI = 0.66-1.46; TT vs GG, OR = 0.78, 95%CI = 0.28-2.21). However, the rs712 polymorphism was significantly associated with the N status of BC patients (GG vs GT/TT, OR = 0.52, 95%CI = 0.30- 0.92; G allele vs T allele, OR = 0.60, 95%CI = 0.37-0.97). We found no association between the let-7 rs712 polymorphism and BC risk. However, the let-7 rs712 G/T polymorphism was discovered to play a potential role in BC tumor metastasis; therefore, it may be employed as a new biomarker or therapy targeted towards resistant tumor metastasis.
Asunto(s)
Regiones no Traducidas 3' , Sitios de Unión , Neoplasias de la Mama/genética , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , MicroARNs/genética , Polimorfismo de Nucleótido Simple , Proteínas Proto-Oncogénicas p21(ras)/genética , Adulto , Anciano , Alelos , Neoplasias de la Mama/epidemiología , Neoplasias de la Mama/patología , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Persona de Mediana Edad , Clasificación del Tumor , Estadificación de Neoplasias , Oportunidad Relativa , RiesgoRESUMEN
The aim of this study was to determine the relationship between polymorphisms in the IL-28B and IL-28R genes and lower urinary tract symptoms (LUTS) in Chinese patients. Genomic DNA was extracted from 553 whole blood samples from 233 patients with LUTS resulted from benign prostatic hyperplasia and 320 control subjects. The IL-28B rs12979860 and rs8099917, and IL-28Rα rs10903035 and rs11249006 polymorphisms were genotyped using a polymerase chain reaction-restriction fragment length polymorphism assay. For rs10903035, the frequencies of the "G" allele and the "AG/GG" genotypes in the LUTS group were significantly lower than those in the control group ("G" vs "A": OR = 0.655, 95%CI = 0.506-0.849; AG/GG vs "AA": OR = 0.538, 95%CI = 0.379-0.764, respectively). Combined effects analysis of rs12979860 and rs10903035 showed that the "CC+AG/GG" and "CT+AA" genotypes were significantly less frequent in the LUTS group ("CC+AG/GG" vs "CC+AA": OR = 0.553, 95%CI = 0.381-0.801; "CT+AG/GG" vs "CC+AA": OR = 0.429, 95%CI = 0.198- 0.927, respectively). In addition, the combined effects of the rs8099917 and rs10903035 "TT+AG/GG" and "GT+AG/GG" genotypes were also significantly lower in the LUTS group ("TT+AG/GG" vs "TT+AA": OR = 0.569, 95%CI = 0.395-0.821; "GT+AG/GG" vs "TT+AA": OR = 0.318, 95%CI = 0.128-0.788, respectively). Stratification analysis revealed that the frequencies of the rs11249006 "AG/GG" genotypes in the subgroups of size ≤4.11 and IPSS ≤ 28 were significantly higher than those in the subgroups of size >4.11 and IPSS > 28. Therefore, the IL-28Rαgene polymorphism might be involved in the development of LUTS.