RESUMO
Colorectal cancer (CRC) is a complex disease, determined by genetic, environmental and lifestyle-associated risk factors. Genetic (inherited) factors have great influence on its development; however, most cases of CRC are sporadic and gradually develop over several years. The main environmental risk factors are associated with b-catenin signaling pathway, including obesity, lack of physical activity, consumption of red and processed meats, alcoholism, and smoking. The pathway is related to cell homeostasis regulation and cell self-renewal during embryogenesis and adulthood. The main recommendation for preventing the development of CRC is to reduce the risk factors, increase the consumption of fruits, vegetables and grains, exercise regularly and limit the consumption of both alcohol and tobacco. However, family history and the presence of a hereditary syndrome increase the risk, which is why carrying out periodic examinations to detect CRC is suggested, using development predictors such as biochemical and molecular markers, which are discussed in this work.
El cáncer colorrectal (CCR) es una enfermedad compleja determinada por factores de riesgo genéticos, ambientales y de estilo de vida. Los factores genéticos (hereditarios) tienen gran influencia en su desarrollo, sin embargo, la mayoría de los casos de CCR son esporádicos y se desarrollan gradualmente a lo largo de varios años. Los principales factores ambientales de riesgo están asociados a la vía de señalización de ß-catenina, entre ellos obesidad, falta de actividad física, consumo de carnes rojas y procesadas, alcoholismo y tabaquismo. La vía está relacionada con la regulación de la homeostasis celular, autorrenovación celular durante la embriogénesis y edad adulta. La principal recomendación para evitar el desarrollo del CCR es reducir los factores de riesgo, aumentar el consumo de frutas, verduras y granos, hacer ejercicio de manera rutinaria y limitar el consumo tanto de alcohol como de tabaco. Dado que los antecedentes familiares y la presencia de un síndrome hereditario aumentan el riesgo, se sugiere hacer exámenes periódicos para detectar CCR y emplear predictores del desarrollo como los marcadores bioquímicos y moleculares, los cuales se presentan en este trabajo.
Assuntos
Neoplasias Colorretais , Humanos , Neoplasias Colorretais/etiologia , Neoplasias Colorretais/genética , beta Catenina/metabolismo , Fatores de Risco , Obesidade/complicações , Transdução de Sinais , Regulação Neoplásica da Expressão GênicaRESUMO
Resumen El cáncer colorrectal (CCR) es una enfermedad compleja determinada por factores de riesgo genéticos, ambientales y de estilo de vida. Los factores genéticos (hereditarios) tienen gran influencia en su desarrollo, sin embargo, la mayoría de los casos de CCR son esporádicos y se desarrollan gradualmente a lo largo de varios años. Los principales factores ambientales de riesgo están asociados a la vía de señalización de β-catenina, entre ellos obesidad, falta de actividad física, consumo de carnes rojas y procesadas, alcoholismo y tabaquismo. La vía está relacionada con la regulación de la homeostasis celular, autorrenovación celular durante la embriogénesis y edad adulta. La principal recomendación para evitar el desarrollo del CCR es reducir los factores de riesgo, aumentar el consumo de frutas, verduras y granos, hacer ejercicio de manera rutinaria y limitar el consumo tanto de alcohol como de tabaco. Dado que los antecedentes familiares y la presencia de un síndrome hereditario aumentan el riesgo, se sugiere hacer exámenes periódicos para detectar CCR y emplear predictores del desarrollo como los marcadores bioquímicos y moleculares, los cuales se presentan en este trabajo.
Abstract Colorectal cancer (CRC) is a complex disease, determined by genetic, environmental and lifestyle-associated risk factors. Genetic (inherited) factors have great influence on its development; however, most cases of CRC are sporadic and gradually develop over several years. The main environmental risk factors are associated with β-catenin signaling pathway, including obesity, lack of physical activity, consumption of red and processed meats, alcoholism, and smoking. The pathway is related to cell homeostasis regulation and cell self-renewal during embryogenesis and adulthood. The main recommendation for preventing the development of CRC is to reduce the risk factors, increase the consumption of fruits, vegetables and grains, exercise regularly and limit the consumption of both alcohol and tobacco. However, family history and the presence of a hereditary syndrome increase the risk, which is why carrying out periodic examinations to detect CRC is suggested, using development predictors such as biochemical and molecular markers, which are discussed in this work.
RESUMO
INTRODUCTION: The ATXN2 gene has a VNTR (CAG)n with locus in exon1. Long alleles within the normal range (22-29 repeats) are associated with severe obesity in people from the United Kingdom, Indonesia and the Caribbean. OBJECTIVE: To analyse the influence of VNTR (CAG)n on metabolic profile in adults with obesity and pre-obesity, as well as to estimate its effect on the risk of developing diabetes. METHODS AND MATERIAL: 255 adults of Chinantec Amerindian ethnic origin were included, who underwent anthropometric and biochemical evaluation. The VNTR was amplified by end-point PCR and by 8% PAGE electrophoresis. RESULTS: Differences were found in the waist/hip circumference index and body mass index in the carriers of genotypes different to the one homozygous for 22 repeats with a Student's t-test value of 0.0041 and 0.0334, respectively. We also found an association with a family history of chronic disease. CONCLUSION: The VNTR of ATXN2 is associated with obesity in Mexican adults of Chinantec ancestry.
Assuntos
Doenças Cardiovasculares , Adulto , Ataxina-2/genética , Fatores de Risco de Doenças Cardíacas , Humanos , Obesidade/genética , Polimorfismo Genético , Fatores de RiscoAssuntos
COVID-19 , População Rural , Humanos , México/epidemiologia , Pacientes Ambulatoriais , Pandemias , SARS-CoV-2RESUMO
Early diagnosis of SARS-CoV-2 infection is very important to establish timely treatment. In the present report, through the examination carried out in otorhinolaryngology, we found a pearlescent vesicular enanthema in the upper palate in 954/958 patients with the classic strain and it was not found in patients with the English strain. This finding had not been reported. The patients were successfully treated on time, only two patients died, which was associated with decompensated diabetes mellitus. The present report suggests that the vesicular enanthem found is pathognomonic for Covid-19 classic strains.
El diagnóstico temprano de la infección por SARS-CoV-2 es muy importante para establecer un tratamiento oportuno. En el presente reporte, en la exploración realizada en otorrinolaringología encontramos un enantema vesicular aperlado en el paladar superior en 954 de 958 pacientes con la cepa clásica, y no se encontró en pacientes con la cepa inglesa. Este hallazgo no se había reportado. Los pacientes fueron tratados a tiempo exitosamente y solo dos pacientes murieron, lo cual se asoció a diabetes mellitus descompensada. Este reporte sugiere que el enantema vesicular encontrado es patognomónico de COVID-19 por cepas clásicas.
Assuntos
COVID-19 , Diabetes Mellitus , Humanos , SARS-CoV-2RESUMO
INTRODUCTION: The ATXN2 gene has a VNTR (CAG)n with locus in exon1. Long alleles within the normal range (22-29 repeats) are associated with severe obesity in people from the United Kingdom, Indonesia and the Caribbean. OBJECTIVE: To analyse the influence of VNTR (CAG)n on metabolic profile in adults with obesity and pre-obesity, as well as to estimate its effect on the risk of developing diabetes. METHODS AND MATERIAL: 255 adults of Chinantec Amerindian ethnic origin were included, who underwent anthropometric and biochemical evaluation. The VNTR was amplified by end-point PCR and by 8% PAGE electrophoresis. RESULTS: Differences were found in the waist/hip circumference index and body mass index in the carriers of genotypes different to the one homozygous for 22 repeats with a Student's t test value of 0.0041 and 0.0334, respectively. We also found an association with a family history of chronic disease. CONCLUSION: The VNTR of ATXN2 is associated with obesity in Mexican adults of Chinantec ancestry.
RESUMO
BACKGROUND: Achondrogenesis is a skeletal dysplasia characterized primarily by short stature, severe micromelia, short and narrow chest, prematurity, polyhydramnios, fetal hydrops, and in utero or neonatal death. Based on the radiological and histopathological findings, there are three types of achondrogenesis: type 1A (Houston-Harris), type 1B (Fraccaro) and type 2 (Langer-Saldino). CLINICAL CASE: A premature female product was studied whose clinical, radiological and histopathological characteristics were compatible with achondrogenesis Type 1A. The family information allowed us to conclude that the 4 products of the 6 previous pregnancies were affected. Statistical analysis in at least 4 families previously described, including this family case showed significant differences between expected and observed number of members, being incongruent with an autosomal recessive mode of inheritance previously reported. CONCLUSIONS: therefore, it could be considered a new subtype of achondrogenesis type 1A due to the presence of a preferential germline mutation.
INTRODUCCIÓN: La acondrogénesis es una displasia esquelética que se caracteriza principalmente por talla baja, micromelia grave, tórax corto y estrecho, prematurez, polihidramnios, hidropesía fetal y muerte fetal in utero o neonatal. Según los hallazgos radiológicos e histopatológicos existen tres tipos de acondrogénesis: tipo 1A (Houston-Harris), tipo 1B (Fraccaro) y tipo 2 (Langer-Saldino). CASO CLÍNICO: Se sometió a estudio a un producto femenino prematuro cuyas características clínicas, radiológicas e histopatológicas fueron compatibles con acondrogénesis tipo 1A. La información familiar permitió concluir que los cuatro productos de los seis embarazos previos se encontraban afectados. El análisis estadístico en por lo menos cuatro familias previamente descritas, incluyendo este caso familiar, mostró diferencias significativas entre el número de miembros esperado y el observado, siendo incongruente con el modo de herencia autosómico recesivo previamente reportado. CONCLUSIONES: Podría considerarse un nuevo subtipo de acondrogénesis tipo 1A debida a la presencia de una mutación germinal preferencial.
Assuntos
Acondroplasia/genética , Acondroplasia/classificação , Feminino , Mutação em Linhagem Germinativa , Humanos , Recém-Nascido , Linhagem , FenótipoRESUMO
Background: Achondrogenesis is a skeletal dysplasia characterized primarily by short stature, severe micromelia, short and narrow chest, prematurity, polyhydramnios, fetal hydrops, and in utero or neonatal death. Based on the radiological and histopathological findings, there are three types of achondrogenesis: type 1A (Houston-Harris), type 1B (Fraccaro) and type 2 (Langer-Saldino). Clinical case: A premature female product was studied whose clinical, radiological and histopathological characteristics were compatible with achondrogenesis Type 1A. The family information allowed us to conclude that the 4 products of the 6 previous pregnancies were affected. Statistical analysis in at least 4 families previously described, including this family case showed significant differences between expected and observed number of members, being incongruent with an autosomal recessive mode of inheritance previously reported. Conclusions: therefore, it could be considered a new subtype of achondrogenesis type 1A due to the presence of a preferential germline mutation.
Introducción: La acondrogénesis es una displasia esquelética que se caracteriza principalmente por talla baja, micromelia grave, tórax corto y estrecho, prematurez, polihidramnios, hidropesía fetal y muerte fetal in utero o neonatal. Según los hallazgos radiológicos e histopatológicos existen tres tipos de acondrogénesis: tipo 1A (Houston-Harris), tipo 1B (Fraccaro) y tipo 2 (Langer-Saldino). Caso clínico: Se sometió a estudio a un producto femenino prematuro cuyas características clínicas, radiológicas e histopatológicas fueron compatibles con acondrogénesis tipo 1A. La información familiar permitió concluir que los cuatro productos de los seis embarazos previos se encontraban afectados. El análisis estadístico en por lo menos cuatro familias previamente descritas, incluyendo este caso familiar, mostró diferencias significativas entre el número de miembros esperado y el observado, siendo incongruente con el modo de herencia autosómico recesivo previamente reportado. Conclusiones: Podría considerarse un nuevo subtipo de acondrogénesis tipo 1A debida a la presencia de una mutación germinal preferencial.
Assuntos
Acondroplasia/classificação , Doenças do Prematuro/classificação , Anormalidades Múltiplas/genética , Acondroplasia/diagnóstico por imagem , Acondroplasia/genética , Acondroplasia/patologia , Cartilagem/patologia , Evolução Fatal , Feminino , Fêmur/patologia , Mutação em Linhagem Germinativa , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Doenças do Prematuro/diagnóstico por imagem , Doenças do Prematuro/genética , Doenças do Prematuro/patologia , Linhagem , Fenótipo , Poli-Hidrâmnios/etiologia , GravidezRESUMO
A systematic analysis of beta-lactamases based on comparative proteomics has not been performed thus far. In this report, we searched for the presence of beta-lactam-related proteins in 591 bacterial proteomes belonging to 52 species that are pathogenic to humans. The amino acid sequences for 19 different types of beta-lactamases (ACT, CARB, CifA, CMY, CTX, FOX, GES, GOB, IMP, IND, KPC, LEN, OKP, OXA, OXY, SHV, TEM, NDM, and VIM) were obtained from the ARG-ANNOT database and were used to construct 19 HMM profiles, which were used to identify potential beta-lactamases in the completely sequenced bacterial proteomes. A total of 2877 matches that included the word "beta-lactamase" and/or "penicillin" in the functional annotation and/or in any of its regions were obtained. These enzymes were mainly described as "penicillin-binding proteins," "beta-lactamases," and "metallo-beta-lactamases" and were observed in 47 of the 52 species studied. In addition, proteins classified as "beta-lactamases" were observed in 39 of the species included. A positive correlation between the number of beta-lactam-related proteins per species and the proteome size was observed (R 0.78, P < 0.00001). This correlation partially explains the high presence of beta-lactam-related proteins in large proteomes, such as Nocardia brasiliensis, Bacillus anthracis, and Mycobacterium tuberculosis, along with their absence in small proteomes, such as Chlamydia spp. and Mycoplasma spp. We detected only five types of beta-lactamases (TEM, SHV, CTX, IMP, and OXA) and other related proteins in particular species that corresponded with those reported in the literature. We additionally detected other potential species-specific beta-lactamases that have not yet been reported. In the future, better results will be achieved due to more accurate sequence annotations and a greater number of sequenced genomes.
Assuntos
Bactérias/enzimologia , Biologia Computacional/métodos , Genoma Bacteriano , Proteínas de Ligação às Penicilinas/genética , beta-Lactamases/genética , Bactérias/genéticaRESUMO
RESUMEN Objetivo Estimar si hay asociación del repetido (CAG)n del gen ATXN2 en población mexicana con diabetes mellitus (DM) tipo 2. Métodos Estudio epidemiológico de casos y controles. Se incluyeron personas sanas y personas diabéticas. La detección de la expansión (CAG)n se realizó por reacción en cadena de la polimerasa (PCR)-punto final. Los productos de PCR se analizaron mediante electroforesis (PAGE al 8%) y tinción con nitrato de plata. Resultados La distribución de alelos del trinucleótido (CAG)n en la población analizada resultó similar a la reportada en el centro del país. El alelo más frecuente es el de 22 repetidos; sin embargo, hay asociación con los portadores de los repetidos largos dentro del rango normal con diabetes. Conclusiones Los resultados sugieren que el repetido (CAG)n del gen de ATXN2 podría ser un factor causal de DM tipo 2.
ABSTRACT Objective Estimate whether there is an association between the (CAG)n repeat in the ATXN2 gene in the Mexican population and type 2 diabetes mellitus (DM). Methods Epidemiological case-control study, including healthy people and diabetics. (CAG)n expansion was detected by end-point polymerase chain reaction (PCR). PCR outputs were analyzed by electrophoresis (PAGE 8%) and silver nitrate staining. Results (CAG)n nucleotide allele distribution in the study population was similar to that reported in central Mexico. The 22-repeat allele is the most frequent; however, there is an association with carriers of long repeats in the normal range with diabetes. Conclusions The results suggest that the (CAG)n repeat of the ATXN2 gene could be a causal factor for type 2 DM.
Assuntos
Marcadores Genéticos , Predisposição Genética para Doença , Diabetes Mellitus Tipo 2/genética , Alelos , Ataxina-2/genéticaRESUMO
Objetivo. Estimar si hay asociación del repetido (CAG)n del gen ATXN2 en población mexicana con diabetes mellitus (DM) tipo 2. Métodos. Estudio epidemiológico de casos y controles. Se incluyeron personas sanas y personas diabéticas. La detección de la expansión (CAG)n se realizó por reacción en cadena de la polimerasa (PCR)-punto final. Los productos de PCR se analizaron mediante electroforesis (PAGE al 8%) y tinción con nitrato de plata. Resultados. La distribución de alelos del trinucleótido (CAG)n en la población analizada resultó similar a la reportada en el centro del país. El alelo más frecuente es el de 22 repetidos; sin embargo, hay asociación con los portadores de los repetidos largos dentro del rango normal con diabetes. Conclusiones. Los resultados sugieren que el repetido (CAG)n del gen de ATXN2 podría ser un factor causal de DM tipo 2.
Objective. Estimate whether there is an association between the (CAG)n repeat in the ATXN2 gene in the Mexican population and type 2 diabetes mellitus (DM). Methods. Epidemiological case-control study, including healthy people and diabetics. (CAG)n expansion was detected by end-point polymerase chain reaction (PCR). PCR outputs were analyzed by electrophoresis (PAGE 8%) and silver nitrate staining. Results. (CAG)n nucleotide allele distribution in the study population was similar to that reported in central Mexico. The 22-repeat allele is the most frequent; however, there is an association with carriers of long repeats in the normal range with diabetes. Conclusions. The results sugge
Assuntos
Ataxina-2 , Diabetes Mellitus Tipo 2 , Obesidade , Receptor de Insulina , Diabetes Mellitus , Ataxina-2 , Obesidade , Hepatopatia Gordurosa não AlcoólicaRESUMO
La hipertricosis cervical anterior no sindrómica (OMIM N° 600457) es un desorden genético caracterizado por un parche de pelo a nivel de la prominencia laríngea. Se presenta a un niño de 12 años de edad con hipertricosis cervical anterior e hipertricosis generalizada leve, sin alteraciones neurológicas, oftalmológicas ni esqueléticas, en seguimiento clínico por un lapso de 10 años.
The non-syndromic anterior cervical hypertrichosis (OMIM N° 600457) is a genetic disorder characterized by a patch of hair at the level of the laryngeal prominence. We present a 12-year-old boy with anterior cervical hypertrichosis and mild generalized hypertrichosis. He has no neurological, ophthalmological or skeletal anomalies. The clinical follow up is 10 years.
Assuntos
Humanos , Masculino , Criança , Faringe/anormalidades , Colo do Útero/anormalidades , Hipertricose/diagnóstico , Fatores de Tempo , SeguimentosRESUMO
The non-syndromic anterior cervical hypertrichosis (OMIM N° 600457) is a genetic disorder characterized by a patch of hair at the level of the laryngeal prominence. We present a 12-year-old boy with anterior cervical hypertrichosis and mild generalized hypertrichosis. He has no neurological, ophthalmological or skeletal anomalies. The clinical follow up is 10 years.
La hipertricosis cervical anterior no sindrómica (OMIM N° 600457) es un desorden genético caracterizado por un parche de pelo a nivel de la prominencia laríngea. Se presenta a un niño de 12 años de edad con hipertricosis cervical anterior e hipertricosis generalizada leve, sin alteraciones neurológicas, oftalmológicas ni esqueléticas, en seguimiento clínico por un lapso de 10 años.
Assuntos
Colo do Útero/anormalidades , Hipertricose , Faringe/anormalidades , Criança , Seguimentos , Humanos , Hipertricose/diagnóstico , Masculino , Fatores de TempoRESUMO
OBJECTIVE: Estimate whether there is an association between the (CAG)n repeat in the ATXN2 gene in the Mexican population and type 2 diabetes mellitus (DM). METHODS: Epidemiological case-control study, including healthy people and diabetics. (CAG)n expansion was detected by end-point polymerase chain reaction (PCR). PCR outputs were analyzed by electrophoresis (PAGE 8%) and silver nitrate staining. RESULTS: (CAG)n nucleotide allele distribution in the study population was similar to that reported in central Mexico. The 22-repeat allele is the most frequent; however, there is an association with carriers of long repeats in the normal range with diabetes. CONCLUSIONS: The results suggest that the (CAG)n repeat of the ATXN2 gene could be a causal factor for type 2 DM.
Assuntos
Ataxina-2/genética , Diabetes Mellitus Tipo 2/genética , Predisposição Genética para Doença , Adulto , Alelos , Estudos de Casos e Controles , Marcadores Genéticos , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
BACKGROUND: TJP1 gene encodes a ZO-1 protein that is required for the recruitment of occludins and claudins in tight junction, and is involved in cell polarisation. It has different variations, the frequency of which has been studied in different populations. In Mexico there are no studies of this gene. These are required because their polymorphisms can be used in studies associated with medicine and surgery. Therefore, the aim of this study was to estimate the frequency of alleles and genotypes of rs2291166 gene polymorphism TJP1 in Mexico Mestizos population, and to estimate the conformational effect of an amino acid change. MATERIAL AND METHODS: A total of 473 individuals were included. The rs2291166 polymorphism was identified PASA PCR-7% PAGE, and stained with silver nitrate. The conformational effect of amino acid change was performed in silico, and was carried out with servers ProtPraram Tool and Search Database with Fasta. RESULTS: The most frequent allele in the two populations is the ancestral allele (T). A genotype distribution similar to other populations was found. The polymorphism is in Hardy-Weinberg, p>0.05. Changing aspartate to alanine produced a conformational change. CONCLUSIONS: The study reveals a high frequency of the ancestral allele at rs2291166 polymorphism in the Mexican population.
Assuntos
Etnicidade/genética , Polimorfismo de Nucleotídeo Único , Proteína da Zônula de Oclusão-1/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Alelos , Sequência de Aminoácidos , Substituição de Aminoácidos , Simulação por Computador , Feminino , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Mola Hidatiforme/genética , Indígenas Norte-Americanos/genética , Masculino , Casamento , México , Pessoa de Meia-Idade , Modelos Genéticos , Modelos Moleculares , Dados de Sequência Molecular , Síndromes Neoplásicas Hereditárias/genética , Pancreatite/genética , Gravidez , Conformação Proteica , Estabilidade Proteica , Espanha/etnologia , Adulto Jovem , Proteína da Zônula de Oclusão-1/químicaRESUMO
El locus g.37190613 en 7p14.2-14.1 del gen ELMO1 presenta un polimorfismo el cual consiste en un cambio G>A(rs1345365). Esta variante, entre otras, de ELMO1, ha sido asociada con nefropatía diabética en diferentes poblaciones. En México son limitados los estudios de asociación de diabetes mellitus con genes candidatos. Por ello, el objetivo del presente trabajo fue determinar la asociación del SNP rs1345365 del gen ELMO1 con el desarrollo de diabetes mellitus tipo 2 (DM2). Para ello se analizaron 148 pacientes con DM2, 156 individuos sin diabetes pero con factores de riesgo cardiovascular y 269 personas sanas sin DM2. El polimorfismo se identificó por PASA (PCR AMPLIFICATION ALLELE SPECIFIC) y PAGE teñida con nitrato de plata. La asociación se estableció por diferentes modelos de epidemiología genética; el modelo dominante mostró una asociación positiva (p=0,0006) como factor protector y el para-dominante mostró al estado heterocigoto como factor de riesgo. En conclusión el estudio reveló la asociación del SNP rs1345365 del gen ELMO1 con DM2 en una población mestiza Mexicana.
The g.37190613 locus on 7p14.2-14.1 in the ELMO1 gene has a G>A polymorphism (SNP rs1345365) that has been associated with diabetic nephropathy in different populations. The genetic-association studies in type 2 diabetes mellitus (DM2) on the Mexican population are limited. The aim of this study was to estimate whether the polymorphism G>A of ELMO1 gene is associated with the development of DM2. We included 148 DM2 individuals, 156 individuals with cardiovascular risk factors without diabetes and 269 healthy proband without DM2. The polymorphism was identified by PCR amplification specific allele (PASA), PAGE and silver staining. The association was established by genetic epidemiological models; the dominant model showed a positive association (p=0.0006) as a protective factor, and the para-dominant model to heterozygous, as risk factor. In conclusion, this study revealed the association of the SNP rs1345365 of the ELMO1 gene in a Mexican population.
Assuntos
Adulto , Humanos , Masculino , Pessoa de Meia-Idade , Proteínas Adaptadoras de Transdução de Sinal/genética , Diabetes Mellitus Tipo 2/genética , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Grupos Raciais , MéxicoRESUMO
BACKGROUND: Acute coronary syndrome (ACS) has an important impact in public health with high morbidity and mortality. Prothrombotic and proinflammatory states are involved in the pathogenesis of the disease. Plasminogen activator inhibitor-1 (PAI-1) is the major inhibitor of the fibrinolysis and also is part of immune response. The -844 G>A gene polymorphism is related to increased PAI-1 protein levels. The aim of the study is to evaluate the association of -844 G>A PAI-1 polymorphism with ACS. METHODS: A total of 646 individuals were recruited from Western Mexico: 350 unrelated healthy subjects and 296 patients with diagnosis of ACS. RESULTS: The most important risk factor in our population was hypertension, followed by smoking. The genetic distribution showed an association of the A allele (OR = 1.27, P = 0.04) and AA genotype (OR = 1.86, P = 0.02) with ACS. The recessive model displayed similar results (OR = 1.76, P = 0.02). As additional finding, we observed significant differences in the genetic distribution of ACS dyslipidemic patients (OR = 1.99, P = 0.04). The A allele and AA genotype of -844 polymorphism of PAI-1 gene are risk factors for ACS. The AA genotype might be associated with the development of dyslipidemia in ACS patients.
Assuntos
Síndrome Coronariana Aguda/genética , Inibidor 1 de Ativador de Plasminogênio/genética , Polimorfismo de Nucleotídeo Único , Idoso , Estudos de Casos e Controles , Feminino , Humanos , Masculino , México , Pessoa de Meia-Idade , Mutação de Sentido IncorretoRESUMO
The g.37190613 locus on 7p14.2-14.1 in the ELMO1 gene has a G>A polymorphism (SNP rs1345365) that has been associated with diabetic nephropathy in different populations. The genetic-association studies in type 2 diabetes mellitus (DM2) on the Mexican population are limited. The aim of this study was to estimate whether the polymorphism G>A of ELMO1 gene is associated with the development of DM2. We included 148 DM2 individuals, 156 individuals with cardiovascular risk factors without diabetes and 269 healthy proband without DM2. The polymorphism was identified by PCR amplification specific allele (PASA), PAGE and silver staining. The association was established by genetic epidemiological models; the dominant model showed a positive association (p=0.0006) as a protective factor, and the para-dominant model to heterozygous, as risk factor. In conclusion, this study revealed the association of the SNP rs1345365 of the ELMO1 gene in a Mexican population.
