Genetic variants of PON1, GSTM1, GSTT1, and locus 9p21.3, and the risk for premature coronary artery disease in Yucatan, Mexico.

OBJECTIVE: Genetic variants of PON1, rs70587, rs662, rs854560, GSTM1, and GSTT1 and two single nucleotide polymorphisms (SNP) at 9p21.3 locus, rs1333049, and rs2383207; were evaluated in association with the risk for premature coronary artery disease (CAD) in a population of Yucatan, Mexico. These genes are involved in the inactivation of pro-oxidants and pro-inflammatory mediators, lipid and xenobiotic metabolism, detoxification of reactive oxygen species, and regulation of cellular proliferation playing key roles in the pathogenesis of atherosclerosis. METHODS: We conducted a matched case-control study with 98 CAD cases and 101 healthy controls. Genotyping of PON1 and 9p21.2 SNP was performed by real time-PCR and for GSTM1 and GSTT1 with multiplex-PCR. Odds ratios (OR) were calculated to estimate association and generalized multifactor dimensionality reduction (GMDR) algorithm to identify gene-gene and gene-environment interactions. RESULTS: The distribution of all allele/genotype frequencies in controls was within Hardy-Weinberg expectations (p > .05) except for GSTM1. The allele/genotype frequencies of the GSTT1 null were significantly higher in CAD cases than in controls, suggesting association with higher risk for developing CAD. The other SNPs did not show any significant independent association with premature CAD. GMDR revealed a significant interaction between GSTT1 and LL55 genotype. Likewise, the body mass index (BMI) and smoking also showed an interaction with GSTT1. CONCLUSION: The GSTT1 null allele/genotype is associated with an increased risk of developing premature CAD, the effect of which is not modified by cardiovascular risk factors in the population of Yucatan.

The Influence of Holder Pasteurization on the Diversity of the Human Milk Bacterial Microbiota Using High-Throughput DNA Sequencing.

BACKGROUND: Human milk is the best food for infants; however, when breastfeeding is not possible, pasteurized milk from human milk banks is the best alternative. Little has been reported about variations in the bacterial microbiota composition of human milk after pasteurization. RESEARCH AIM: To characterize and compare the bacterial microbiota composition and diversity within human milk among Mexican mothers before and after the Holder pasteurization process. METHODS: A cross-sectional, observational, and comparative design was used. The effect of the pasteurization process on the bacterial composition and diversity of human milk samples of donors (N = 42) from a public milk bank was assessed before and after pasteurization by high throughput deoxyribonucleic acid sequencing of V3-16S rRNA gene libraries. Sequencing data were examined using the Quantitative Insights into Microbial Ecology software and Phyloseq in R environment. RESULTS: A varied community of bacteria was found in both raw and pasteurized human milk. The bacterial diversity of the milk samples was increased by the pasteurization, where some thermoduric bacteria of the phyla Proteobacteria, Firmicutes, and Actinobacteria were more abundant. The source tracker analysis indicated that at most 1.0% of bacteria may have come from another source, showing the safety of the process used to treat milk samples. CONCLUSION: The pasteurization process increased the bacterial diversity. We selected taxa capable of surviving the process, which could proliferate after the treatment without being a risk for infants.

The vaginal and fecal microbiota of a murine cervical carcinoma model under synergistic effect of 17ß-Estradiol and E7 oncogene expression.

Cervical cancer is an important health issue worldwide. Many factors are related to this condition as the persistence of human papillomavirus (HPV) infection (e.g. type 16 and 18), the use of hormonal contraceptives for long periods of time, pH changes and bacterial vaginosis. The association between the microbiota and cervical human cancer is an interesting issue to be explored; given that environmental and hormonal factors may change the vaginal microbiota contributing to this condition. Our hypothesis was that changes in the microbiota diversity is associated with the development of cervical cancer. We evaluated the microbiota diversity in vaginal lavages and fecal samples at different stages of cervical cancer development in a mice model (K14HPV16E7) with type 16 E7 oncogene expression (E7), under continuous or not continuous stimulus of 17ß-estradiol (E2) and compared it with a non-transgenic isogenic control (FVB) under same conditions. Our results indicate that continuous E2 administration during 6 months in the model with type 16 E7 expression causing development of cancer, is associated with significant changes in the microbiota diversity of the cervicovaginal lavages. Similar results were not observed in the same model when no E2 was administered to the mice. The FVB mice with no E7 expression which do not develop cervical cancer, did not show comparable changes in the microbiota diversity when E2 was administered during the same period. Normal evolution of the cervical epithelium and microbiota diversity were observed for the FVB mice with no E2 administration. Large changes in the microbiota diversity in fecal samples were not observed suggesting a specific organ effect of E7 expression associated to E2 on the vaginal microbiota.

Human milk microbiota associated with early colonization of the neonatal gut in Mexican newborns.

BACKGROUND: Human milk microbiota plays a role in the bacterial colonization of the neonatal gut, which has important consequences in the health and development of the newborn. However, there are few studies about the vertical transfer of bacteria from mother to infant in Latin American populations. METHODS: We performed a cross-sectional study characterizing the bacterial diversity of 67 human milk-neonatal stool pairs by high-throughput sequencing of V3-16S rDNA libraries, to assess the effect of the human milk microbiota on the bacterial composition of the neonate's gut at early days. RESULTS: Human milk showed higher microbial diversity as compared to the neonatal stool. Members of the Staphylococcaceae and Sphingomonadaceae families were more prevalent in human milk, whereas the Pseudomonadaceae family, Clostridium and Bifidobacterium genera were in the neonatal stool. The delivery mode showed association with the neonatal gut microbiota diversity, but not with the human milk microbiota diversity; for instance, neonates born by C-section showed greater richness and diversity in stool microbiota than those born vaginally. We found 25 bacterial taxa shared by both ecosystems and 67.7% of bacteria found in neonate stool were predicted to originate from human milk. This study contributes to the knowledge of human milk and neonatal stool microbiota in healthy Mexican population and supports the idea of vertical mother-neonate transmission through exclusive breastfeeding.

Intervalos de referencia para 25-hidroxivitamina D en población autóctona y aparentemente sana de Yucatán / Reference values for 25-hydroxy-vitamin D in a native and apparently healthy population from Yucatan, Mexico

Introducción: La 25-hidroxivitamina D [25(OH)D] se considera un marcador del estado general de salud y su deficiencia es un problema a nivel mundial. En la actualidad no existe un consenso para definir sus niveles óptimos, siendo necesario establecerlos para cada población de acuerdo con sus características étnicas y factores ambientales a los que está expuesta. Objetivo: Determinar los intervalos de referencia para 25(OH)D en población autóctona y aparentemente sana de Yucatán. Métodos: Se estudiaron 71 voluntarios aparentemente sanos, de uno u otro sexo, de uno a 65 años, originarios y residentes en Yucatán. Se determinaron los niveles séricos de 25(OH)D, así como los de calcio, fósforo y paratohormona por su relación con el metabolismo de la vitamina D. Los intervalos de referencia se calcularon con los métodos paramétrico y consistente. Se registró el fototipo de piel y se aplicó el test de Garabédian para determinar el consumo diario de calcio y vitamina D. Resultados: El valor medio de 25(OH)D fue de 23,49±5,60ng/mL. Los límites de referencia para 25(OH)D total y por sexos fueron más estrechos y significativamente diferentes a los propuestos por el fabricante. Se encontró correlación directa entre los niveles de 25(OH)D y el calcio sérico (r=0,36; p=0,003) e inversa con la paratohormona intacta (r=−0,44; p<0,001). Una dieta rica en calcio y vitamina D no es suficiente para mantener los requerimientos normales de 25(OH)D en esta población. Conclusiones: Los intervalos de referencia propuestos están adecuados a las peculiaridades de la población de Yucatán, y pudieran mejorar la exactitud de la medición del estado de salud con base en los niveles séricos de vitamina D

Introduction: 25-hydroxyvitamin D [25(OH)D] is considered a marker of general health and its deficiency is a problem worldwide. There is still no consensus to define their optimal levels, with it being necessary to establish them for each population according to their ethnic characteristics and environmental factors to which they are exposed. Objective: To determine the reference intervals for 25(OH)D in the native and apparently healthy population of Yucatan. Methods:The study included 71 apparently healthy volunteers, female and male, between one and 65 years old, and originally from Yucatan. Serum levels of 25(OH)D were measured along with the determination of calcium, phosphorus, and parathormone levels due to their relationship with vitamin D metabolism. Reference intervals were calculated using parametric and robust methods. The skin phototype was recorded and the Garabedian test was applied to determine the daily intake of calcium and vitamin D. Results: The mean value of 25(OH)D was 23.49±5.60ng/mL. The reference limits for total and gender-related 25(OH)D, and by gender were narrower and significantly different from those proposed by the manufacturer. A direct correlation was found between 25(OH)D levels and serum calcium (r=0.36; P=.003) and an inverse one with intact parathormone (r=−0.44; P<.001). A diet rich in calcium and vitamin D is not sufficient to maintain the normal requirements of 25(OH)D in this population. Conclusions: The proposed reference intervals are adequate to the peculiarities of the population of Yucatan and could improve the accuracy of health status measurement based on serum levels of vitamin D

Análisis de epistasia de polimorfismos de genes metabólicos asociados a cardiopatía isquémica en Yucatán / Epistasis analysis of metabolic genes polymorphisms associated with ischemic heart disease in Yucatan

Objetivo: La epistasia es un tipo de interacción genética que podría explicar gran parte de la variabilidad fenotípica que muestran las enfermedades complejas. En este trabajo se determinó el efecto de la epistasia de genes metabólicos y los factores de riesgo cardiovascular en la susceptibilidad al desarrollo de cardiopatía isquémica en Yucatán. Métodos: Estudio de casos y controles en 79 pacientes yucatecos con cardiopatía isquémica y 101 controles sanos pareados por edad y origen con los casos. Se genotipificaron los polimorfismos -108CT, Q192R, L55M (paraoxonasa 1, PON1), C677T, A1298C (5,10 metilentetrahidrofolato reductasa, MTHFR) y la presencia/ausencia del gen glutatión S-transferasa T1 (GSTT1). El análisis de epistasia se realizó con el método de reducción dimensional multifactorial (MDR). El mejor modelo de predicción de riesgo se seleccionó con base en la precisión (%), la significación estadística (p < 0,05) y la consistencia de la validación cruzada. Resultados: Se encontró asociación independiente del genotipo nulo GSTT1*0/0 (OR = 3,39; IC: 1,29-8,87; p = 0,017) y el alelo nulo (OR = 1,86; IC: 1,19-2,91; p = 0,007) con la cardiopatía isquémica. La deleción GSTT1*0 y el genotipo 677TT (MTHFR) se identificaron de alto riesgo cardiovascular, mientras que el genotipo silvestre GSTT1*1 y la variante CC677 se clasificaron de bajo riesgo. La interacción gen-ambiente identificó al gen GSTT1, al polimorfismo C677T (MTHFR) y a la hipertensión arterial como los factores que mejor explican la cardiopatía isquémica en la población estudiada. Conclusiones: La interacción de los genes GSTT1 y MTHFR conjuntamente con la hipertensión arterial puede constituir un modelo de predicción de riesgo para el inicio temprano de cardiopatía isquémica en la población de Yucatán

Objective: Epistasis is a type of genetic interaction that could explain much of the phenotypic variability of complex diseases. In this work, the effect of epistasis of metabolic genes and cardiovascular risk on the susceptibility to the development of ischemic heart disease in Yucatan was determined. Methods: Case-control study in 79 Yucatecan patients with ischemic heart disease and 101 healthy controls matched by age and origin with cases. The polymorphisms -108CT, Q192R, L55M (paraoxonase 1; PON1), C677T, A1298C (methylenetetrahydrofolate reductase; MTHFR), and the presence/absence of the glutathione S-transferase T1 (GSTT1) gene were genotyped. Epistasis analysis was performed using the multifactorial dimensional reduction method. The best risk prediction model was selected based on precision (%), statistical significance (P<0.05), and cross-validation consistency. Results: We found an independent association of the null genotype GSTT1*0/0 (OR=3.39, CI: 1.29-8.87, P=0.017) and the null allele (OR=1.86, CI: 1.19-2.91, P=0.007) with ischemic heart disease. The GSTT1*0 deletion and the 677TT genotype (MTHFR) were identified as being at a high cardiovascular risk, whereas the GSTT1*1 wild type genotype and the CC677 variant were at low risk. The gene-environment interaction identified the GSTT1 gene, C677T polymorphism (MTHFR), and hypertension as the factors that best explain ischemic heart disease in the study population. Conclusions: The interaction of the MTHFR, GSTT1 and hypertension may constitute a predictive model of risk for early onset ischemic heart disease in the population of Yucatan

Epistasis analysis of metabolic genes polymorphisms associated with ischemic heart disease in Yucatan. / Análisis de epistasia de polimorfismos de genes metabólicos asociados a cardiopatía isquémica en Yucatán.

OBJECTIVE: Epistasis is a type of genetic interaction that could explain much of the phenotypic variability of complex diseases. In this work, the effect of epistasis of metabolic genes and cardiovascular risk on the susceptibility to the development of ischemic heart disease in Yucatan was determined. METHODS: Case-control study in 79 Yucatecan patients with ischemic heart disease and 101 healthy controls matched by age and origin with cases. The polymorphisms -108CT, Q192R, L55M (paraoxonase 1; PON1), C677T, A1298C (methylenetetrahydrofolate reductase; MTHFR), and the presence/absence of the glutathione S-transferase T1 (GSTT1) gene were genotyped. Epistasis analysis was performed using the multifactorial dimensional reduction method. The best risk prediction model was selected based on precision (%), statistical significance (P<0.05), and cross-validation consistency. RESULTS: We found an independent association of the null genotype GSTT1*0/0 (OR=3.39, CI: 1.29-8.87, P=0.017) and the null allele (OR=1.86, CI: 1.19-2.91, P=0.007) with ischemic heart disease. The GSTT1*0 deletion and the 677TT genotype (MTHFR) were identified as being at a high cardiovascular risk, whereas the GSTT1*1 wild type genotype and the CC677 variant were at low risk. The gene-environment interaction identified the GSTT1 gene, C677T polymorphism (MTHFR), and hypertension as the factors that best explain ischemic heart disease in the study population. CONCLUSIONS: The interaction of the MTHFR, GSTT1 and hypertension may constitute a predictive model of risk for early onset ischemic heart disease in the population of Yucatan.

Prevalencia de infecciones de transmisión sexual en pacientes sintomáticos y asintomáticos de Yucatán / Prevalence of sexually transmitted infections in symptomatic and asymptomatic patients from Yucatan

Introducción. Los datos epidemiológicos sobre infecciones de transmisión sexual (ITS) no virales en Yucatán son limitados y provienen de pruebas serológicas. Material y métodos. Estudio retrospectivo para estimar la prevalencia de ITS no virales en pacientes de Yucatán utilizando un método molecular. Se tomaron muestras urogenitales en 147 pacientes (53 hombres y 94 mujeres) para la extracción de los ácidos nucleicos. Se utilizó la reacción en cadena de la polimerasa en tiempo real para la detección simultánea de Chlamydia trachomatis, Neisseria gonorrhoeae, Mycoplasma genitalium, Mycoplasma hominis, Ureaplasma urealyticum, Ureaplasma parvum y Trichomonas vaginalis. El análisis estadístico se realizó con el test exacto de Fisher. Resultados. La prevalencia de ITS fue de 45,6%. Ureaplasma spp. fue el patógeno más frecuente y el sexo femenino el más afectado (p=0,022). Se detectó un 12,2% de coinfecciones con mayor frecuencia en mujeres (16,0 vs. 3,7%, p=0,035). No se encontraron diferencias significativas entre los pacientes sintomáticos (n=138) con reacción en cadena de la polimerasa positivo (n=64) y negativo (n=74). Las mujeres entre 21-40 años fueron las más expuestas a ITS (p <0,05). Conclusiones. Estos datos confirman la alta prevalencia de ITS no virales en Yucatán, siendo el primer reporte epidemiológico aplicando un método molecular (AU)

Introduction. Epidemiological data about non-viral sexually transmitted infections (STI) in Yucatan are limited and come from serological methods. Material and methods. Retrospective study to estimate the prevalence of STI in symptomatic and asymptomatic patients from Yucatan based on a molecular method. The urogenital samples were taken from 147 patients (53 men and 94 women) to extracted nucleic acids. Real-time polymerase chain reaction was used to simultaneous detection of Chlamydia trachomatis, Neisseria gonorrhoeae, Mycoplasma genitalium, Mycoplasma hominis, Ureaplasma urealyticum, Ureaplasma parvum y Trichomonas vaginalis. Statistical analysis was performed with the Fisher's exact test. Results. The prevalence of STIs was 45.6%. Ureaplasma spp. was the pathogen most frequent and the females the most affected (p=.022). It was detected 12.2% of coinfections being more frequent in women (16.0 vs. 3.7%, p=.035). No significant differences were found between symptomatic patients (n=138) with positive polymerase chain reaction (n=64) and negative (n=74). Women 21-40 years were the most exposed to STIs (p<.05). Conclusions. These data confirm the high prevalence of non-viral STIs in Yucatán, being the first epidemiological report based on a molecular method (AU)

Polimorfismos G894T del gen NOS3 y G1958A del gen MTHFD1 y riesgo de cardiopatía isquémica en Yucatán, México / G894T (NOS3) and G1958A (MTHFD1) gene polymorphisms and risk of ischemic heart disease in Yucatan, Mexico

Introducción y objetivos: La medicina cardiovascular actual está dirigida a la búsqueda de marcadores de riesgo genético con valor predictivo y/o pronóstico. Entre las variantes de interés se encuentran los polimorfismos G894T en el gen óxido nítrico sin tasa endotelial y G1958A en el gen metilentetrahidrofolato deshidrogenasa 1. El objetivo de este estudio fue determinar la posible asociación entre estos polimorfismos y la cardiopatía isquémica (CI) en el sureste de México (Yucatán). Métodos: Estudio de casos y controles con pareamiento por edad, sexo y lugar de nacimiento. Se estudiaron 98 pacientes con CI y 101 controles. Todos los participantes fueron evaluados para los factores de riesgo tradicionales. Los polimorfismos se identificaron utilizando la reacción en cadena de la polimerasa mediante análisis de la longitud de los fragmentos de restricción. Se obtuvo el consentimiento informado de todos los participantes. Resultados: Los polimorfismos G894T y G1958A no mostraron asociación con la CI. Sin embargo, la estratificación según la manifestación clínica mostró que el genotipo TT (G894T) se asoció con la angina (OR = 10,2; IC 95%, 1,51-68,8; p = 0,025). Se observó mayor frecuencia del genotipo GT en los pacientes con historia familiar de enfermedad coronaria. El análisis de regresión logística identificó al tabaquismo (OR = 5,21; IC 95%, 2,1-12,9; p = 0,000), la hipertensión arterial (OR = 3,54; IC 95%, 1,47-8,56; p = 0,005) y la obesidad (OR = 1,16; IC 95%, 1,1-1,27; p = 0,001) como factores predictores de CI. Conclusiones: Los polimorfismos G894T y G1958A no mostraron asociación con la CI. Sin embargo, la homocigosis del alelo 894T (NOS3) confiere riesgo para el desarrollo de angina en Yucatán

Introduction and objectives: Cardiovascular medicine is focused on the search for genetic risk markers with predictive and/or prognostic value. Among the genetic variants of interest are G894T endothelial nitric oxide synthase and G1958A methylenetetrahydrofolate dehydrogenase 1 gene polymorphisms. The aim of this study was to determine the possible association between these polymorphisms and ischemic heart disease in patients from Southern of Mexico (Yucatán). Methods: Case-control study matched by age, sex and origin was designed. We studied 98 patients with coronary disease and 101 controls. Participants were evaluated for the usual risk factors. The polymorphisms were identified using the polymerase chain reaction/restriction fragment length polymorphism analysis. Informed consent was obtained from all participants. Results: The G894T and G1958A polymorphisms were not associated with ischemic heart disease, however, the TT genotype (G894T) was associated with the angina (OR = 10.2; 95% CI, 1.51-68.8; p = 0.025). The genotype GT (G894T) was the most frequent in patients with family history of coronary artery disease. Multiple logistic regression analysis identified smoking (OR = 5.21; 95% CI, 2.1-12.9; p = 0.000), hypertension (OR = 3.54; 95% CI, 1.47-8.56; p = 0.005) and obesity (OR = 1.16; 95% CI, 1.1-1.27; p = 0.001) as risk factors predicting the ischemic heart disease. Conclusions: The G894T and G1958A polymorphisms showed not association with ischemic heart disease. However, homozygosis for the 894T allele (NOS3) confers at risk to develop angina on Yucatán

[G894T (NOS3) and G1958A (MTHFD1) gene polymorphisms and risk of ischemic heart disease in Yucatan, Mexico]. / Polimorfismos G894T del gen NOS3 y G1958A del gen MTHFD1 y riesgo de cardiopatía isquémica en Yucatán, México.

INTRODUCTION AND OBJECTIVES: Cardiovascular medicine is focused on the search for genetic risk markers with predictive and/or prognostic value. Among the genetic variants of interest are G894T endothelial nitric oxide synthase and G1958A methylenetetrahydrofolate dehydrogenase1 gene polymorphisms. The aim of this study was to determine the possible association between these polymorphisms and ischemic heart disease in patients from Southern of Mexico (Yucatán). METHODS: Case-control study matched by age, sex and origin was designed. We studied 98 patients with coronary disease and 101 controls. Participants were evaluated for the usual risk factors. The polymorphisms were identified using the polymerase chain reaction/restriction fragment length polymorphism analysis. Informed consent was obtained from all participants. RESULTS: The G894T and G1958A polymorphisms were not associated with ischemic heart disease, however, the TT genotype (G894T) was associated with the angina (OR=10.2; 95%CI, 1.51-68.8; p=0.025). The genotype GT (G894T) was the most frequent in patients with family history of coronary artery disease. Multiple logistic regression analysis identified smoking (OR=5.21; 95%CI, 2.1-12.9; p=0.000), hypertension (OR=3.54; 95%CI, 1.47-8.56; p=0.005) and obesity (OR=1.16; 95%CI, 1.1-1.27; p=0.001) as risk factors predicting the ischemic heart disease. CONCLUSIONS: The G894T and G1958A polymorphisms showed not association with ischemic heart disease. However, homozygosis for the 894T allele (NOS3) confers at risk to develop angina on Yucatán.

Comportamiento de los alelos HLA-DQB1*02 y HLA-DQB1*03 en pacientes con diagnóstico presuntivo de enfermedad celíaca / Behavior of HLA-DQB1*02 and HLA-DQB1*03 alleles in patients with a presumptive diagnosis of celiac disease

La enfermedad celíaca (EC) es autoinmune y se observa en individuos genéticamente predispuestos, se caracteriza por la intolerancia a determinadas proteínas llamadas gluten (gliadinas y gluteínas) que se encuentran en el trigo, el centeno y la cebada. Se sabe que existe una asociación del sistema HLA y la enfermedad celíaca (HLA-DQ2/HLA-DQ8), pero no existen estudios cubanos acerca de esa asociación por lo que nos propusimos analizar el comportamiento de los alelos DQB1*02 y DQB1*03 mediante un estudio analítico observacional en 65 pacientes con diagnóstico presuntivo de enfermedad celíaca con el objetivo de incluir la detección de estos alelos en el esquema diagnóstico de esta compleja enfermedad. Se halló que los individuos portadores del alelo DQB1*02 (OR: 2,26) fueron más susceptibles de padecer la enfermedad que los no portadores, que el 60 por ciento de los presuntos pacientes con enfermedad celíaca presentaron el alelo HLA-DQ2 y el 3 por ciento, el alelo HLA-DQ8. Se concluyóque el genotipaje HLA-DQ2/HLA-DQ8 es de gran utilidad para el diagnóstico de enfermedad celíaca

The celiac disease (CD) is autoimmune and it is present in genetically predisposed subjects, characterized by the intolerance to determined proteins present in wheat, rye and barley: called gluten and gliadin. It is known that there is an association between HLA-system and celiac disease (HLA-DQ2/HLA-DQ8), but there aren't Cuban studies on this association, thus we analyzed the behavior of DQB1*02 and DQB1*03 alleles by means of an observational and analytical study in 65 patients with a presumptive diagnosis of celiac disease to include its detection in the diagnostic scheme of this complex disease. There was found that subjects carriers of the DQB1*02 allele (OR: 2,26) were more susceptible to suffer this disease than those non-carriers, that the 60 percent of the supposed patients presenting with the celiac disease had the HLA-DQ2 allele and the 3 percent had the HLA-DQ8 allele. We conclude that the HLA-DQ2/HLA-DQ8 genotyping is very useful for the diagnosis of the celiac disease

Comportamiento de los alelos HLA-DQB1*02 y HLA-DQB1*03 en pacientes con diagnóstico presuntivo de enfermedad celíaca / Behavior of HLA-DQB1*02 and HLA-DQB1*03 alleles in patients with a presumptive diagnosis of celiac disease

La enfermedad celíaca (EC) es autoinmune y se observa en individuos genéticamente predispuestos, se caracteriza por la intolerancia a determinadas proteínas llamadas gluten (gliadinas y gluteínas) que se encuentran en el trigo, el centeno y la cebada. Se sabe que existe una asociación del sistema HLA y la enfermedad celíaca (HLA-DQ2/HLA-DQ8), pero no existen estudios cubanos acerca de esa asociación por lo que nos propusimos analizar el comportamiento de los alelos DQB1*02 y DQB1*03 mediante un estudio analítico observacional en 65 pacientes con diagnóstico presuntivo de enfermedad celíaca con el objetivo de incluir la detección de estos alelos en el esquema diagnóstico de esta compleja enfermedad. Se halló que los individuos portadores del alelo DQB1*02 (OR: 2,26) fueron más susceptibles de padecer la enfermedad que los no portadores, que el 60 por ciento de los presuntos pacientes con enfermedad celíaca presentaron el alelo HLA-DQ2 y el 3 por ciento, el alelo HLA-DQ8. Se concluyó que el genotipaje HLA-DQ2/HLA-DQ8 es de gran utilidad para el diagnóstico de enfermedad celíaca(AU)

The celiac disease (CD) is autoimmune and it is present in genetically predisposed subjects, characterized by the intolerance to determined proteins present in wheat, rye and barley: called gluten and gliadin. It is known that there is an association between HLA-system and celiac disease (HLA-DQ2/HLA-DQ8), but there aren't Cuban studies on this association, thus we analyzed the behavior of DQB1*02 and DQB1*03 alleles by means of an observational and analytical study in 65 patients with a presumptive diagnosis of celiac disease to include its detection in the diagnostic scheme of this complex disease. There was found that subjects carriers of the DQB1*02 allele (OR: 2,26) were more susceptible to suffer this disease than those non-carriers, that the 60 percent of the supposed patients presenting with the celiac disease had the HLA-DQ2 allele and the 3 percent had the HLA-DQ8 allele. We conclude that the HLA-DQ2/HLA-DQ8 genotyping is very useful for the diagnosis of the celiac disease(AU)

Producción de reactivos para histocompatibilidad: actualidad y perspectivas / Production of reagents for histocompatibility: present time and perspectives

Con el descubrimiento de la técnica de microlinfocitotoxicidad para la detección de los antígenos del sistema mayor de histocompatibilidad, se impulsó notablemente la producción de reactivos para esta finalidad por constituir la base de las técnicas de tipificación serológicas. En 1990 el laboratorio comienza a asumir la producción de estos diagnosticadores y obtiene el primer lote de antisueros HLA clase I, producidos a partir de suero retroplacentario humano. Después, con la adquisición de la tecnología Patimed-Leica, la producción se diversifica y cuenta en la actualidad con 124 antisueros con un coeficiente de correlación mayor que 0,700 para 64 especificidades HLA diferentes, que han sido validados en laboratorios internacionales de referencia. Otras producciones son los sueros de conejo como fuente de complemento estándar y de baja toxicidad, una formulación de placa seca para la detección del antígeno B27, así como varias formulaciones de baterías de tipaje HLA Clase I(AU)

Producción de reactivos para histocompatibilidad: actualidad y perspectivas / Production of reagents for histocompatibility: present time and perspectives

Con el descubrimiento de la técnica de microlinfocitotoxicidad para la detección de los antígenos del sistema mayor de histocompatibilidad, se impulsó notablemente la producción de reactivos para esta finalidad por constituir la base de las técnicas de tipificación serológicas. En 1990 el laboratorio comienza a asumir la producción de estos diagnosticadores y obtiene el primer lote de antisueros HLA clase I, producidos a partir de suero retroplacentario humano. Después, con la adquisición de la tecnología Patimed-Leica, la producción se diversifica y cuenta en la actualidad con 124 antisueros con un coeficiente de correlación mayor que 0,700 para 64 especificidades HLA diferentes, que han sido validados en laboratorios internacionales de referencia. Otras producciones son los sueros de conejo como fuente de complemento estándar y de baja toxicidad, una formulación de placa seca para la detección del antígeno B27, así como varias formulaciones de baterías de tipaje HLA Clase I(AU)