RESUMO
We investigated the expression level of p53 upregulated modulator of apoptosis (PUMA), myeloid cell leukemia-I (MCL-1), and p53 in renal cell carcinoma (RCC) and para-carcinoma tissues, as well as their clinical significance. The expression levels of PUMA, MCL-1, and p53 in RCC and para-carcinoma tissues were measured using immunohistochemical and quantitative real-time PCR methods. Correlations between protein expression and pathological characteristics were analyzed. Renal clear cell carcinoma showed elevated MCL-1 and p53 protein expression (P > 0.05) and reduced PUMA expression as compared to that in para-carcinoma tissues. Spearman ranking correlation analysis showed that expression of PUMA, MCL-1, and p53 in was negatively correlated with RCC (r = -0.504, P = 0.001; r = -0.413, P = 0.008). We also observed significant correlation between MCL-1 expression and tumor differentiation (P < 0.05), where MCL-1 expression was significantly higher in well-differentiated adenocarcinoma as compared to that in medium or lowly differentiated adenocarcinoma. In addition, p53 expression was highly correlated with TNM staging (P < 0.05). Single factor analysis on COX's proportional hazard model indicated that postoperative survival rate and prognosis of renal clear cell carcinoma was highly correlated with TNM staging (P < 0.05). Quantitative real-time PCR analysis indicated higher expression of PUMA, MCL-1, and p53 in cancer tissues as compared to that in para-carcinoma tissues (P < 0.05).The expression of PUMA, MCL-1, and p53 can reflect the biological behavior of renal cell carcinoma, and can be used to indicate tumor invasion, progression, and prognosis.
Assuntos
Proteínas Reguladoras de Apoptose/genética , Biomarcadores Tumorais/genética , Carcinoma de Células Renais/genética , Neoplasias Renais/genética , Proteína de Sequência 1 de Leucemia de Células Mieloides/genética , Proteínas Proto-Oncogênicas/genética , Proteína Supressora de Tumor p53/genética , Adulto , Idoso , Proteínas Reguladoras de Apoptose/metabolismo , Biomarcadores Tumorais/metabolismo , Carcinoma de Células Renais/metabolismo , Carcinoma de Células Renais/patologia , Estudos de Casos e Controles , Feminino , Humanos , Neoplasias Renais/metabolismo , Neoplasias Renais/patologia , Masculino , Pessoa de Meia-Idade , Proteína de Sequência 1 de Leucemia de Células Mieloides/metabolismo , Proteínas Proto-Oncogênicas/metabolismo , Proteína Supressora de Tumor p53/metabolismoRESUMO
Human cytochrome P450 4A11 (CYP4A11) plays a role in the regulation of blood pressure through the conversion of arachidonic acid into 20-hydroxyeicosatetraenoic acid (20-HETE). We therefore investigated the association between a CYP4A11 polymorphism (rs9333025) with hypertension in the Mongolian and Han ethnic groups. We studied 514 Mongolians in a pastoral area, including 201 hypertension patients and 313 normotensive controls, and 524 Han individuals in an urban area, including 215 hypertension patients and 309 normotensive controls. Genotyping was performed using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). Genotype, allele, and dominant inheritance differed significantly between the Mongolian and Han populations (P = 0.006, P = 0.002, and P = 0.003, respectively). Significant differences were also observed in these factors when considering only males (P = 0.001, P = 0.003, and P = 0.001, respectively). For the Han population, recessive inheritance differed significantly between hypertension patients and controls and between male patients and controls (P = 0.005 and P = 0.049, respectively). The genotypic, allelic, and dominant frequencies differed significantly between hypertension patients in both populations (P = 0.019, P = 0.035, and P = 0.024, respectively). The genotypic frequency in Mongolian male patients was significantly different from that in Han male patients (P = 0.009). Higher body mass index, triglycerides, and lower high-density lipoprotein were associated with increased risk of developing hypertension in the Han population. The GG genotype was in higher frequency in the Mongolian population, indicating that it is a high risk factor for hypertension. Mongolian men were at higher risk of developing hypertension.
Assuntos
Sistema Enzimático do Citocromo P-450/genética , Hipertensão/genética , Polimorfismo de Fragmento de Restrição , Adulto , Idoso , Povo Asiático , Estudos de Casos e Controles , China , Citocromo P-450 CYP4A , Feminino , Estudos de Associação Genética , Humanos , Hipertensão/epidemiologia , Hipertensão/etnologia , Masculino , Pessoa de Meia-Idade , Mongólia/etnologia , Fatores SexuaisRESUMO
Methylation of the septin 9 gene (SEPT9) occurs in higher frequency in colorectal cancer (CRC) compared to control samples, which suggests that SEPT9 methylation is a useful biomarker for screening CRC. However, the methylation status of SEPT9 in Chinese CRC patients is scarcely reported. In the present study, SEPT9 methylation was tested in CRC tissues obtained from a Chinese population and correlations with pathological characteristics were investigated. The methylation status of SEPT9 was detected using methylation-specific polymerase chain reaction (PCR)-denaturing high-performance liquid chromatography (MSP-DHPLC) in 234 colorectal tissues (172 cases, 62 controls). Samples were sequenced to confirm the results from MSP-DHPLC. The chi-squared test was used to analyze the correlation of SEPT9 gene methylation status and pathological characteristics in CRCs. SEPT9 gene methylation was detected in 152 of 172 (88.4%) cases of verified CRC and in 4 of 62 (6.5%) healthy controls (χ(2) = 137.62, P < 0.001). There was no association between the methylation status of SEPT9 and age, gender, Duke's stage, TNM stage, differentiation, and site of cancer (P > 0.05). Our results suggest that SEPT9 gene methylation is a valuable biomarker for screening CRC in the Chinese population.
Assuntos
Neoplasias Colorretais/genética , Metilação de DNA/genética , Detecção Precoce de Câncer , Septinas/genética , Idoso , Povo Asiático , Neoplasias Colorretais/diagnóstico , Neoplasias Colorretais/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estadiamento de NeoplasiasRESUMO
Activation of the peroxisome proliferator-activated receptor g (PPARg) improves insulin sensitivity and inhibits atherosclerosis. Whether PPARg2 Pro12Ala polymorphism affects myocardial infarction is not clearly understood. We investigated a possible association of PPARg2 Pro12Ala polymorphism with obesity and myocardial infarction in Han Chinese in Hohhot, Inner Mongolia, China. We included 121 subjects with myocardial infarction and 137 healthy controls in our study. Triglycerides, total cholesterol, low-density lipoprotein cholesterol, and high-density lipoprotein cholesterol were measured. The following information was recorded for each subject: age, gender, body height, body weight, systolic blood pressure, and diastolic blood pressure; the body mass index was calculated. PCR-RFLP was used to examine Pro12Ala polymorphism. There were significant differences in clinical characteristics between myocardial infarction patients and healthy controls, except for diastolic blood pressure and triglycerides. The PP, PA/AA genotype frequencies were 88.4 and 11.6% in myocardial infarction patients and 95.6 and 4.4% in controls, respectively (P = 0.031). Individuals with the A allele had a significantly higher risk of myocardial infarction. The A allele was not an independent risk factor for obesity. We conclude that PPARg2 Pro12Ala polymorphisms are associated with increased risk for myocardial infarction in Han Chinese in Hohhot.
Assuntos
Povo Asiático/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Infarto do Miocárdio/genética , Obesidade/genética , PPAR gama/genética , Polimorfismo de Nucleotídeo Único/genética , Idoso , Idoso de 80 Anos ou mais , Substituição de Aminoácidos/genética , Estudos de Casos e Controles , China , Etnicidade/genética , Feminino , Frequência do Gene/genética , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Infarto do Miocárdio/complicações , Obesidade/complicações , Fatores de RiscoRESUMO
We investigated a possible association of peroxisome proliferator-activated receptor gamma coactivator-1 alpha (PGC-1α) Gly482Ser polymorphism with hypertension in Mongolians in Inner Mongolia. A total of 787 subjects were enrolled randomly, including 390 hypertension patients and 397 healthy controls. Triglycerides, cholesterol, and fasting plasma glucose were measured, and body mass index was calculated. PCR-RFLP was used to analyze Gly482Ser polymorphisms. There were significant differences in triglycerides, fasting plasma glucose, and body mass index between hypertension patients and healthy controls. Cholesterol levels did not differ significantly. The PGC-1α gene GG, GA and AA genotype distributions were 37.2, 48.5 and 14.4%, respectively, in patients and 48.6, 37.3 and 14.1% in healthy controls. The frequencies of PGC-1α genotype GA and allele A were significantly different between hypertension patients and healthy Mongolians. We concluded that PGC-1α Gly482Ser polymorphism is associated with hypertension in Mongolians in Inner Mongolia.
Assuntos
Povo Asiático/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Proteínas de Choque Térmico/genética , Hipertensão/genética , Polimorfismo de Nucleotídeo Único/genética , Fatores de Transcrição/genética , Substituição de Aminoácidos/genética , Estudos de Casos e Controles , China , Feminino , Frequência do Gene/genética , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Coativador 1-alfa do Receptor gama Ativado por Proliferador de Peroxissomo , Fatores de RiscoRESUMO
We examined the distribution of major allelic variants of CYP2C9 and CYP2C19 in the Mongolian population of China and compared it with that of other populations. The polymorphisms of CYP2C9 (including the CYP2C9*1, CYP2C9*2 and CYP2C9*3 alleles) and CYP2C19 (including the CYP2C19*1, CYP2C19*2 and CYP2C19*3 alleles) were analyzed in 280 healthy unrelated Chinese Mongolian subjects, using a PCR-RFLP assay. The frequencies of CYP2C9*1, *2 and *3 alleles were 0.97, 0.00 and 0.03, respectively. The frequencies of CYP2C19*1, *2 and *3 alleles were 0.72, 0.24 and 0.04, respectively. We did not find any differences in the allelic distribution of these two genes between age groups. However, the genotype frequency of CYP2C9 *1/*3 was significantly higher in males than in females. Compared with other populations, we found that the allele frequencies of the CYP2C9*2 and CYP2C9*3 allelic variants in this Mongolian population of China were similar to those reported for other Asian populations, with significant differences compared to Caucasians and African-Americans.