Estructura y mezcla genética de las poblaciones mestizas del noreste de México mediante el uso de marcadores moleculares autosómicos, mitocondriales y del cromosoma "Y"

Se considera que los primeros pobladores del Continente Americano fueron ancestros asiáticos que cruzaron el estrecho de Bering, entrando en Alaska mucho antes del final de la glaciación Würm-Wisconsin, en una fecha que oscila entre los 15,000 y los 40,000 años, según los diferentes cálculos (Serrano-Sánchez, 1993). La fecha que marcó el inicio del proceso de mezcla, que desembocó en el estada actual de los grupos humanos, se ha fijado en el año 1492, ya que lo sucedido durante los dos primeros años, siguientes al viaje del navegante genovés Cristóbal Colón, modeló gran parte de la distribución humana del mundo actual (Coon, 1969)

Lifestyle changes in descendants of parents with diabetes type 2

O objetivo geral do estudo foi explorar à disposição à mudança dos padrões alimentares e atividade física nos descendentes de progenitores com diabetes mellitus tipo 2 (DMT2). Aplicou-se un desenho descritivo correlacionar. A base teórica constituiu-se pelo Componente Genético (h²) e o Modelo Transteorético de Prochaska. Participaram 30 progenitores com DMT2 e 60 descendentes. Resultados e Conclusões: O 68% dos descendentes presentaram obesidade, 60% com risco de doença cardiovascular, 42% com resistência à insulina (RI) e 15% intolerância à glucose; nenhum dos fatores de risco associaram-se com as etapas de mudança. O componente genético para RI foi mínimo (h² = 1.37%). Uma maior proporcão dos menores de 40 anos (Xi² = 6.04, p = .020) e das mulheres (Xi² = 4.41, p=.040) contemplam diminuir o consumo de gorduras. Os resultados sugerem um maior peso dos fatores do meio ambiente sobre o estilo de vida nocivo dos participantes.El objetivo general del estudio fue explorar la disposición al cambio de patrones alimentarios y actividad física en descendientes de progenitores con diabetes mellitus tipo 2 (DMT2), aplicando un diseño descriptivo correlacional. La base teórica la constituyó el componente genético heredabilidad (h²) y el Modelo Transteorético de Prochaska; participaron 30 progenitores con DMT2 y 60 descendientes. Resultados y Conclusión: El 68% de los descendientes fueron obesos, 60% con riesgo de enfermedad cardiovascular, 42% con resistencia a la insulina (RI) y 15% intolerantes a la glucosa; ninguno de los factores de riesgo se asoció con las etapas de cambio. El componente genético para RI fue mínimo (h² = 1.37%). Una mayor proporción de menores de 40 años (p = .020) y de mujeres "contemplan" disminuir el consumo de grasas (p = .040). Estos resultados sugieren un mayor peso de factores del medio ambiente sobre el estilo de vida nocivo de los participantes.This study aimed to explore the disposition of diabetic parents' descendents in changing eating and physical activity patterns. It was based on the heritability concept and Prochaska's Transtheoretical Model. This is a descriptive-correlational study; participants included 30 parents, randomly selected, and 60 children. Results and conclusion: 68% of the children was classified as obese, 42% with insulin resistance, and 15% with carbohydrate intolerance. None of the risk factors was associated with the stages of change. The heritability factor was 1.37%; more people younger than 40 and women report decreasing in the consumption of fat food (Xi² = 6.04, p = .020; and 4.41, p = .040, respectively). These results suggest a high influence of environmental factors on the participants' unhealthy life styles

Genetic variants in KCNJ11, TCF7L2 and HNF4A are associated with type 2 diabetes, BMI and dyslipidemia in families of Northeastern Mexico: A pilot study

The aim of the present study was to investigate whether genetic markers considered risk factors for metabolic syndromes, including dyslipidemia, obesity and type 2 diabetes mellitus (T2DM), can be applied to a Northeastern Mexican population. A total of 37 families were analyzed for 63 single nucleotide polymorphisms (SNPs), and the age, body mass index (BMI), glucose tolerance values and blood lipid levels, including those of cholesterol, low‑density lipoprotein (LDL), very LDL (VLDL), high‑density lipoprotein (HDL) and triglycerides were evaluated. Three genetic markers previously associated with metabolic syndromes were identified in the sample population, including KCNJ11, TCF7L2 and HNF4A. The KCNJ11 SNP rs5210 was associated with T2DM, the TCF7L2 SNP rs11196175 was associated with BMI and cholesterol and LDL levels, the TCF7L2 SNP rs12255372 was associated with BMI and HDL, VLDL and triglyceride levels, and the HNF4A SNP rs1885088 was associated with LDL levels (P\u3c0.05)

Epidemiología Genética de la Hipertensión Arterial en el Noreste de México. I. Determinación del Tamaño de Muestra

El propósito del presente estudio fue determinar a partir de un muestreo piloto el número de familias nucleares (progenitores-descendientes) adecuado para realizar un estudio de epidemiología genética de la hipertensión arterial (HTA) en el Noreste de México. Material y métodos: Como muestra piloto, participaron 14 familias. Los cuatro abuelos de los progenitores nacieron en alguno de los cinco estados del Noreste de México. La muestra quedo distribuidas en: Familia I. Ambos progenitores sin HTA (n = 3), Familia II. Un progenitor con HTA y el otro sin HTA (n = 5) y Familia III. Ambos progenitores con HTA (n = 6). La información progenitores-descendientes se recolectó previo consentimiento informado para cada integrante, el cual consistió en 10 variables cuantitativas: edad, presión sistólica, presión diastólica, estatura, peso, glucosa, colesterol, triglicéridos, HDL y LDL. El tamaño de muestra se determino mediante dos procedimientos: 1. Para cada una de las variables cuantitativas de progenitores y descendientes, se determino el tamaño de muestra mediante el paquete MINITAB V15.0 (modulo ANOVA unifactorial) y 2. Para la asociación de los 3 tipos de familias con los tipos de descendientes (con y sin HTA) se hizo una tabla de contingencia de 3x2 mediante el paquete N´Query Advisor v4.0. Resultados: Procedimiento 1. En los progenitores la variable peso dio el mayor tamaño de muestra = 105 (35 por tipo de familia) mientras que en los descendientes la variable estatura dio el mayor tamaño de muestra = 201 (67 por tipo de familia). Los cálculos se hicieron con un valor de significancia (Alfa) de 0.05 y un potencial (1-Beta) del 80%. Procedimiento 2. A partir de la tabla 3x2 se obtuvo un tamaño de efecto (Delta al cuadrado) del 0.1773. La cual sirvió para crear una tabla de tamaño de muestra con valores de significancia del 0.05 al 0.001 y potenciales del 80 al 99%. El número mínimo de familias obtenido fue de 19 (Alfa = 0.05 y 1-Beta = 80%) y el máximo de 67 (Alfa = 0.001 y 1-Beta = 99%). Considerando a la Familia I como el grupo control se encontró una tendencia de mayor riesgo (OR) para las Familias II (3.00) y III (8.57). Conclusión. Consideramos que un tamaño de muestra de 201 familias nucleares (67 por grupo de familia) nos brindara la significancia y representatividad para continuar con el estudio multicentrico y multidisciplinario de la epidemiología genética de la HTA en el Noreste de México

Leptin receptor expression during the progression of endometrial carcinoma is correlated with estrogen and progesterone receptors

Abstract Introduction: The hormone leptin, which is produced in the adipose tissue, may influence tumorigenesis directly via its receptor (Ob-R). Thus, a role for Ob-R in endometrial carcinogenesis has been proposed. However, most studies neither included samples of the entire histological progression of endometrial carcinoma nor examined Ob-R jointly with the estrogen and progesterone receptors (ER and PR, respectively). Material and methods: To determine the fluctuations of Ob-R, ER, and PR during the histological progression of endometrial carcinoma, we assessed their expression via immunohistochemistry (IHC) in six histological types of endometrium (proliferative, secretory, nonatypical and atypical hyperplasia, and endometrioid and nonendometrioid endometrial carcinoma), in which we performed histopathological and digital scoring for the quantification of receptors. Results: We found that Ob-R expression was positively correlated with that of ER and PR (r = 1, p < 0.001; r = 0.943, p < 0.005, respectively), and there was a significant difference in Ob-R expression among proliferative normal endometrium, hyperplasias, and carcinomas, according to their relative digitally scored Ob-R expression (p < 0.001). In addition, we observed that Ob-R expression in the secretory endometrium was more similar to that of carcinomas than to its proliferative counterpart. Conclusions: These results indicate that Ob-R expression fluctuates during endometrial carcinogenesis in correlation with ER and PR, suggesting that Ob-R expression in vivo is highly dependent on estrogen and progesterone activities in the endometrium and on its ER and PR status, as suggested previously by in vitro studies. Key words: Ob-R, endometrial carcinoma, immunohistochemistr

Evaluation of DNA Single and Double Strand Breaks in Women with Cervical Neoplasia Based on Alkaline and Neutral Comet Assay Techniques

A hospital-based unmatched case-control study was performed in order to determine the relation of DNA single (ssb) and double (dsb) strand breaks in women with and without cervical neoplasia. Cervical epithelial cells of 30 women: 10 with low grade squamous intraepithelial lesions (LG-SIL), 10 with high-grade SIL (HG-SIL), and 10 without cervical lesions were evaluated using alkaline and neutral comet assays. A significant increase in global DNA damage (ssb + dsb) and dsb was observed in patients with HG-SIL (48.90 ± 12.87 and 23.50 ± 13.91), patients with LG-SIL (33.60 ± 14.96 and 11.20 ± 5.71), and controls (21.70 ± 11.87 and 5.30 ± 5.38; resp.). Pearson correlation coefficient reveled a strong relation between the levels ssb and dsb (2=0.99, =0.03, and 2=0.94, =0.16, resp.) and progression of neoplasia. The increase of dsb damage in patients with HG-SIL was confirmed by DNA breakage detection-FISH (DBD-FISH) on neutral comets. Our results argue in favor of a real genomic instability in women with cervical neoplasia, which was strengthened by our finding of a higher proportion of DNA dsb

Polymorphisms in GSTM1, GSTT1, GSTP1, and GSTM3 genes and breast cancer risk in northeastern Mexico : Short Communication

Glutathione S-transferases (GSTs) are a family of phase II metabolizing enzymes involved in carcinogen detoxification and the metabolism of various bioactive compounds. Several genes that code for these enzymes are polymorphic in an ethnicity-dependent manner, with particular genotypes previously associated with an increased risk of breast cancer. The purpose of this study was to determine the frequencies of polymorphisms in the genes GSTM1, GSTT1, GSTP1, and GSTM3 and to investigate whether an association exists between these genes and breast cancer risk in subjects from northeastern Mexico. Genotypes were determined for 243 women with histologically confirmed breast cancer and 118 control subjects. Gene polymorphisms were analyzed using a DNA microarray. We found an increased breast cancer risk associated with the GSTM1 gene deletion polymorphism (OR = 2.19; 95%CI = 1.50-3.21; P = 0.001). No associations between the GSTT1, GSTP1, and GSTM3 genotypes and neoplasia risk were observed. In conclusion, we determined the genotype distribution of GST polymorphisms in control subjects and breast cancer patients from northeastern Mexico. The GSTM1 null genotype was associated with breast cancer risk. Our findings may be used to individualize breast cancer screening and therapeutic intervention in our population, which displays ethnic characteristics that differentiate it from other populations in Mexico

Clinical Study Mammographic Breast Density Patterns in Asymptomatic Mexican Women

Breast density (BD) is a risk factor for breast cancer. Aims. To describe BD patterns in asymptomatic Mexican women and the pathological mammographic findings. Methods and Material. Prospective, descriptive, and comparative study. Women answered a questionnaire and their mammograms were analyzed according to BI-RADS. Univariate (χ 2 ) and conditional logistic regression analyses were performed. Results. In 300 women studied the BD patterns were fat 56.7% (170), fibroglandular 29% (87), heterogeneously dense 5.7% (17), and dense pattern 8.6% (26). Prevalence of fat pattern was significantly different in women under 50 years (37.6%, 44/117) and older than 50 (68.8%, 126/183). Patterns of high breast density (BD) (dense + heterogeneously dense) were observed in 25.6% (30/117) of women ≤50 years and 7.1% (13/183) of women &gt;50. Asymmetry in BD was observed in 22% (66/300). Compression cone ruled out underlying disease in 56 cases. In the remaining 10, biopsy revealed one fibroadenoma, one complex cyst, and 6 invasive and 2 intraductal carcinomas. 2.6% (8/300) of patients had non-palpable carcinomas. Benign lesions were observed in 63.3% (190/300) of cases, vascular calcification in 150 cases (78.9%), and fat necrosis in 38 cases (20%). Conclusions. Mexican women have a low percentage of high-density patterns

Detection of Turner Syndrome by Quantitative PCR of SHOX and VAMP7 Genes

Turner Syndrome (TS) is an unfavorable genetic condition with a prevalence of 1:2500 in newborn girls. Prompt and effective diagnosis is very important to appropriately monitor the comorbidities. The aim of the present study was to propose a feasible and practical molecular diagnostic tool for newborn screening by quantifying the gene dosage of the SHOX, VAMP7, XIST, UBA1, and SRY genes by quantitative polymerase chain reaction (qPCR) in individuals with a diagnosis of complete X monosomy, as well as those with TS variants, and then compare the results to controls without chromosomal abnormalities. According to our results, the most useful markers for these chromosomal variants were the genes found in the pseudoautosomic regions 1 and 2 (PAR1 and PAR2), because differences in gene dosage (relative quantification) between groups were more evident in SHOX and VAMP7 gene expression. Therefore, we conclude that these markers are useful for early detection in aneuploidies involving sex chromosomes