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
We investigated whether the MDR1 C3435T polymorphism is associated with fibrocystic changes (FCC), infiltrating ductal breast cancer (IDBC), and/or clinical-pathological features of IDBC in Mexican patients. Samples from women who received surgical treatment in 2007 at the Centro Médico de Occidente (México) were included in the analysis. Genotyping was performed by polymerase chain reaction-restricted fragment length polymorphisms in 64 paraffin-embedded breast samples with IDBC, 64 samples with FCC, and 183 peripheral blood samples of healthy females designated as the healthy group (HG). The frequency of the T allele was 41, 45, and 52% for the FCC, IDBC, and HG samples, respectively. Significant differences were only found between the FCC and HG samples [odds ratio (OR) = 0.64, 95% confidence interval (CI) = 0.43-0.96; P = 0.032]. The prevalence of the T/T genotype was 8, 13, and 24% for FCC, IDBC, and HG samples, respectively. Again, statistical differences were only found between FCC and HG samples for the T/T genotype (OR = 0.28, 95%CI = 0.106-0.77; P = 0.009). Although the T allele and the T/T genotype were less frequent in the IDBC group than in the HG, the differences were not significant. Furthermore, no associations were found between the C3435T polymorphism and clinical-pathological features of the IDBC group. Both the FCC and IDBC groups had a high frequency of the C allele relative to the HG in this sample of women from Western Mexico.
Asunto(s)
Neoplasias de la Mama/genética , Carcinoma Ductal de Mama/genética , Enfermedad Fibroquística de la Mama/genética , Polimorfismo de Nucleótido Simple , Subfamilia B de Transportador de Casetes de Unión a ATP/genética , Adulto , Anciano , Anciano de 80 o más Años , Alelos , Neoplasias de la Mama/patología , Carcinoma Ductal de Mama/patología , Estudios de Casos y Controles , Femenino , Enfermedad Fibroquística de la Mama/patología , Expresión Génica , Frecuencia de los Genes , Genotipo , Humanos , México , Persona de Mediana Edad , Clasificación del Tumor , Polimorfismo de Longitud del Fragmento de RestricciónRESUMEN
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 JovenRESUMEN
We examined the influence of the Arg194Trp, Arg280His, and Arg399Gln polymorphisms of XRCC1 (X-ray repair cross-complementing group 1) on the development of childhood acute lymphoblastic leukemia (ALL) in 120 ALL patients and 120 controls in Mexico. All of them were genotyped for these polymorphisms, using polymerase chain reaction. No significant differences in allele and genotype frequencies for any polymorphism were observed between patients and controls. Estimation of haplotypes showed the eight expected haplotypes (A-H), seven of which were found in both patients and controls; haplotype A (Arg-Arg-Arg) was the most common, whereas haplotypes F and G were absent in patients and controls, respectively. Haplotype B (Trp-Arg-Arg) was found to be associated with an increased risk of ALL (odds ratio (OR) = 1.95, 95% confidence interval (CI) = 1.13-3.37; P = 0.016), particularly in males (OR = 2.65, 95%CI = 1.25-5.63; P = 0.01). Individually, the 194Trp, 280His, and 399Gln alleles were not associated with significantly increased risk for ALL in these Mexican children.