RESUMEN
We analyzed a possible association between RUNX3 gene polymorphisms and haplotypes in Mexican patients with colorectal cancer (CRC). Genomic DNA samples were obtained from the peripheral blood of 176 Mexican patients with CRC at diagnosis and from 195 individuals that formed the control group. The polymorphisms were detected by polymerase chain reaction-restriction fragment length polymorphism. Association was estimated by odds ratio (OR). The haplotypes and linkage disequilibrium were established using the Arlequin v3.5 software. We found that the RUNX3 polymorphisms analyzed were in Hardy-Weinberg equilibrium. The RUNX3 rs2236852 AA genotype and A allele showed association with CRC (OR = 0.39, 95%CI = 0.21-0.73, P < 0.01; OR = 0.65, 95%CI = 0.49-0.87, P < 0.01, respectively), while the rs6672420, rs11249206, and rs760805 polymorphisms did not show significant association with CRC. The TA haplotype (SNPs rs760805 and rs2236852) showed an increased risk for CRC (OR = 2.52, 95%CI = 1.47-4.30, P < 0.001). In conclusion, we found that the AA genotype and A allele of rs2236852 polymorphism confer a decreased CRC risk, while the TA haplotype appears to increase the risk of CRC development in Mexican patients.
Asunto(s)
Neoplasias Colorrectales/genética , Subunidad alfa 3 del Factor de Unión al Sitio Principal/genética , Predisposición Genética a la Enfermedad , Haplotipos , Polimorfismo de Nucleótido Simple , Adulto , Anciano , Anciano de 80 o más Años , Alelos , Estudios de Casos y Controles , Femenino , Humanos , Masculino , México , Persona de Mediana Edad , Oportunidad Relativa , Factores de Riesgo , Adulto JovenRESUMEN
The ZNF217 gene, a potential oncogene amplified and overexpressed in several cancers including colorectal cancer (CRC), acts as a transcription factor that activates or represses target genes. The polymorphisms rs16998248 (T>A) and rs35720349 (C>T) in coronary artery disease have been associated with reduced expression of ZNF217. In this study, we analyzed the 2 polymorphisms in Mexican patients with CRC. Genotyping of rs16998248 and rs35720349 sites was performed by polymerase chain reaction-restriction fragment length polymorphism in 203 Mexican Mestizos, 101 CRC patients, and 102 healthy blood donors. Although no statistical differences regarding genotype and allele frequencies of ZNF217 polymorphisms were observed (P > 0.05), linkage disequilibrium was significant in CRC patients (r(2) = 0.39, P < 0.0001), as a result of reduced AC haplotype frequency. Thus, the AC haplotype may protect against CRC.
Asunto(s)
Carcinogénesis/genética , Neoplasias Colorrectales/genética , Predisposición Genética a la Enfermedad , Polimorfismo de Nucleótido Simple/genética , Transactivadores/genética , Estudios de Casos y Controles , Frecuencia de los Genes/genética , Humanos , MéxicoRESUMEN
Colorectal cancer (CRC) is characterized by enhanced expression and activity of several metalloproteinases (MMPs), including MMP13 and MMP7, which play an important role in tumor invasion and metastasis. The objective of this study was to analyze the association of functional MMP7-181A/G and MMP13-77A/G promoter polymorphisms with susceptibility to CRC in a Mexican population. Genomic DNA samples were obtained from peripheral blood of 102 CRC patients and 125 blood donors who were included as the control group. Identification of polymorphisms was based on polymerase chain reaction-restriction fragment length polymorphism methodology. The association was estimated by the odds ratio (OR) test. The results showed that MMP7-181A/G and MMP13-77A/G variants were associated with CRC. For MMP7-181A/G, the AA (P=0.02, OR=3.38, 95% confidence interval (CI)=1.16-9.84) and AG (P=0.01, OR=3.4, 95%CI=1.17-9.83) genotypes were associated with an increased risk of CRC. For MMP13-77A/G, the AA and AG genotypes were associated with CRC (AA genotype: P=0.04, OR=3.2, 95%CI=1.004-10.2; AG genotype: P=0.01, OR=4.08, 95%CI=1.3-13.07). In conclusion, AA and AG genotype carriers for both polymorphisms are at a higher risk of developing CRC in this Mexican population.
Asunto(s)
Neoplasias Colorrectales/genética , Metaloproteinasa 14 de la Matriz/genética , Metaloproteinasa 7 de la Matriz/genética , Adulto , Anciano , Anciano de 80 o más Años , Neoplasias Colorrectales/patología , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , Población , Regiones Promotoras GenéticasRESUMEN
DNA repair proteins maintain DNA integrity; polymorphisms in genes coding for these proteins can increase susceptibility to colorectal cancer (CRC) development. We analyzed a possible association of MLH1 -93G>A and 655A>G and XRCC1 Arg194Trp and Arg399Gln polymorphisms with CRC in Mexican patients. Genomic DNA samples were obtained from peripheral blood of 108 individuals with CRC (study group) at diagnosis and 120 blood donors (control group) from Western Mexico; both groups were mestizos. The polymorphisms were detected by PCR-RFLP. Association was estimated by calculating the odds ratio (OR). We found that the MLH1 and XRCC1 polymorphisms were in Hardy- Weinberg equilibrium. The MLH1 655A>G polymorphism in the 655G allele was associated with a 2-fold increase risk for CRC (OR = 2.04 and 95% confidence interval (95%CI) = 1.12-3.69; P < 0.01), while the MLH1 -93G>A polymorphism allele was associated with a protective effect (OR = 0.60, 95%CI = 0.40-0.89; P = 0.01 in the -93A allele and OR = 0.32, 95%CI = 0.13-0.79; P = 0.01 in the AA genotype). The XRCC1 Arg194Trp and Arg399Gln polymorphisms did not show any significant associations. In conclusion, we found that MLH1 -93G>A and 655A>G polymorphisms are associated with CRC in Mexican patients.
Asunto(s)
Proteínas Adaptadoras Transductoras de Señales/genética , Neoplasias Colorrectales/genética , Proteínas de Unión al ADN/genética , Predisposición Genética a la Enfermedad , Proteínas Nucleares/genética , Polimorfismo de Nucleótido Simple/genética , Adulto , Anciano , Anciano de 80 o más Años , Estudios de Casos y Controles , Frecuencia de los Genes/genética , Humanos , México , Persona de Mediana Edad , Homólogo 1 de la Proteína MutL , Proteína 1 de Reparación por Escisión del Grupo de Complementación Cruzada de las Lesiones por Rayos X , Adulto JovenAsunto(s)
Peces Venenosos , Enfermedades Transmitidas por los Alimentos/etiología , Tetrodotoxina/envenenamiento , Adolescente , Animales , Enfermedades Transmitidas por los Alimentos/fisiopatología , Enfermedades Transmitidas por los Alimentos/terapia , Humanos , Masculino , Parálisis/inducido químicamente , Parálisis/fisiopatología , Parálisis/terapia , Parestesia/inducido químicamenteRESUMEN
In late 1981, the Western Hemisphere's pandemic of acute hemorrhagic conjunctivitis spread to Puerto Rico. Over 6,000 cases of conjunctivitis were reported to the Puerto Rico Department of Health from November 1981 to March 1982. Enterovirus 70 was isolated from one of 19 eye-swab specimens tested, and 10 of 13 (77%) individuals with acute hemorrhagic conjunctivitis had neutralizing antibody titers to enterovirus 70 of greater than or equal to 1:4. These data suggest that enterovirus 70 was the etiologic agent of the acute hemorrhagic conjunctivitis outbreak in Puerto Rico. In a study of a lower middle socioeconomic sector with relatively intense transmission, 152 of 670 (23%) persons reported illness consistent with acute hemorrhagic conjunctivitis. The highest attack rate was in the 5- to 14-year-old group (30%), and a disproportionate number of household index cases were in the predominantly school age group (5-19 years old). Twelve per cent (3/25) of asymptomatic household contacts of acute hemorrhagic conjunctivitis cases had sera with neutralizing antibody to enterovirus 70. Retrospective surveillance through ophthalmologists and neurologists identified one patient with a neurologic complication, a seventh nerve palsy temporally associated with recent enterovirus 70 infection. Household transmission was significantly associated with crowding and sharing of beds (p less than 0.05). This and other recent studies in Florida suggest that school age children play an important role in the transmission of acute hemorrhagic conjunctivitis. This study also suggests that asymptomatic enterovirus 70 infection is uncommon, and that in Puerto Rico, neurologic complications associated with acute hemorrhagic conjunctivitis were quite rare.