Association of the Alu insertion polymorphism in the progesterone receptor gene with breast cancer in a Mexican population

viii, 130 hal; 14x21 c

ESR2 gene variants (rs1256049, rs4986938, and rs1256030) and their association with breast cancer risk

Background Variants of the estrogen receptor b (ESR2) gene have been associated with different types of cancer. However, these associations have been inconsistent. We genotyped the ESR2 variants (rs1256049, rs4986938, and rs1256030) in breast cancer (BC) patients and in healthy women. Results The variants rs1256049 and rs4986938 in the ESR2 gene were not associated with risk susceptibility in BC patients. However, the rs1256030 variant had an association as a risk factor for BC patients when compared with controls and BC patients for the TT genotype (odds ratio (OR) 1.86, 95% confidence intervals (CI) [1.05–3.28], p = 0.042). In addition, differences were observed in patients and controls carrying the TT genotype under 50 years of age (OR 1.85, 95% CI [1.05–3.27], p = 0.043). Thus, evident differences showed the rs1256030 variant in patients with TT, TC, and TC+TT genotypes with: (1) Stage IV (OR 1.60, 95% CI [1.06–2.54], p = 0.033), and (2) Luminal A (OR 1.60, 95% CI [0.47–0.21], p = 0.041), as well as in BC carriers of the TT genotype with indices of cellular proliferative (Ki-67) elevated (>20%) and overweight (OR 1.67, 95% CI [0.85–3.28], p = 0.041), respectively. In BC HER2 with lymph node metastasis, the TT genotype was a protective factor (OR 0.38, 95% CI [0.18–0.78], p = 0.005). The identification of haplotypes included two common GAT as risk factors (OR 3.1, 95% CI [1.31–7.72], p = 0.011) and GGC as a protective factor (OR 0.7, 95% CI [0.60–0.97], p = 0.034). The haplogenotype GGGATC was a risk factor (OR 2.5, 95% CI [1.28–5.0], p = 0.008). Conclusion The variant rs1256030 (TT) of the ESR2 gene and haplotype GAT were associated with susceptibility to BC as risk factors in this sample from the Mexican population

Homocisteína, polimorfismos MTHFR C677T, A1298C y variables clínico-bioquímicas en población mexicana

El objetivo del trabajo consistió en analizar la relación del nivel sérico de homocisteína (Hcy) con los polimorfismos de la metilentetrahidrofolato reductasa MTHFR C677T y A1298C y variables clínicas y bioquímicas en población mexicana. Se determinó el nivel de Hcy (inmunoensayo) y de polimorfismos (PCR/RFLP) en 102 individuos de la población general. El genotipo 677TT mostró asociación significativa con el peso corporal (r=0,012) y el genotipo 1298CC tuvo tendencia a asociarse con el IMC (r~0,06). Los valores séricos de Hcy en mujeres (51/102) fueron 8,33±1,86 µmol/L y en hombres (51/102) 11,64±4,15 µmol/L. La Hcy mostró asociación positiva con peso corporal (r=0,004) y asociación negativa con Hb y Hto (r=0,001). Se encontró mayor nivel de Hcy en individuos fumadores (r=0,009) y una tendencia hacia hiperhomocisteinemia en alcohólicos y en mujeres menopáusicas. No se evidenció asociación de Hcy con los polimorfismos MTHFR C677T y A1298C, sin embargo, el análisis con el modelo de herencia dominante para el polimorfismo C677T (TT+CT vs. CC) mostró un efecto semidominante (r<0,10). En este estudio, la presencia de los polimorfismos MTHFR C677T y A1298C no representó ser un factor de riesgo significativo para hiperhomocisteinemia, sin embargo, se encontraron diferencias que puntualizan la posible dependencia de los niveles de Hcy en relación con los genotipos modificados con diversos factores ambientales