目的:探讨趋化素样因子超家族6(chemokine-like factor-like MARVEL transmembrane domain-containing family member 6,CMTM6)在乳腺癌组织中的表达及其与患者临床病理特征和预后的相关性。方法:选用购自芯超公司的136例乳腺癌组织芯片...目的:探讨趋化素样因子超家族6(chemokine-like factor-like MARVEL transmembrane domain-containing family member 6,CMTM6)在乳腺癌组织中的表达及其与患者临床病理特征和预后的相关性。方法:选用购自芯超公司的136例乳腺癌组织芯片,其中包括42例配对的癌及癌旁组织,用免疫组织化学染色法检测乳腺癌及癌旁组织中CMTM6的表达水平。用配对χ~2检验比较CMTM6在乳腺癌及癌旁组织中的表达差异,用χ~2检验分析乳腺癌组织中CMTM6表达水平与患者临床病理特征的关系,用Kaplan-Meier及Log rank分析CMTM6表达水平与患者生存期的关系,拟合Cox模型评价不同指标对患者预后的影响程度。结果:CMTM6在乳腺癌组织中的表达水平显著高于癌旁组织(P<0.01)。CMTM6的表达与乳腺癌病理分型和HER2阳性相关(P<0.05)。CMTM6高表达组患者的生存期较CMTM6低表达组显著缩短(P<0.05)。乳腺癌病理分型(HR=10.374,95%CI:3.529~30.497,P<0.01)、TNM分期(HR=4.599,95%CI:1.784~11.856,P<0.01)、三阴性乳腺癌(HR=3.370,95%CI:1.055~10.761,P<0.05)和CMTM6高表达(HR=0.195,95%CI:0.073~0.518,P<0.01)均可作为评判乳腺癌患者预后的独立危险因素。结论:CMTM6在乳腺癌组织中高表达,其可作为乳腺癌患者预后评估的危险因素。展开更多
Genetics plays an important role in determining the susceptibility of an individual to develop a disease. Complex, multi factorial diseases of modern day(diabetes, cardiovascular disease, hypertension and obesity) are...Genetics plays an important role in determining the susceptibility of an individual to develop a disease. Complex, multi factorial diseases of modern day(diabetes, cardiovascular disease, hypertension and obesity) are a result of disparity between the type of food consumed and genes, suggesting that food which does not match the host genes is probably one of the major reasons for developing life style diseases. Non-alcoholic fatty liver is becoming a global epidemic leading to substantial morbidity. While various genotyping approaches such as whole exome sequencing using next generation sequencers and genome wide association studies have identified susceptibility loci for non-alcoholic fatty liver disease(NAFLD) including variants in patatin-like phospholipase domain containing 3 and transmembrane 6 superfamily member 2 genes apart from others; nutrient based studies emphasized on a combination of vitamin D, E and omega-3 fatty acids to manage fatty liver disease. However majority of the studies were conducted independent of each other and very few studies explored the interactions between the genetic susceptibility and nutrient interactions. Identifying such interactions will aid in optimizing the nutrition tailor made to an individual's genetic makeup, thereby aiding in delaying the onset of the disease and its progression. The present topic focuses on studies that identified the genetic susceptibility for NAFLD, nutritional recommendations, and their interactions for better management of NAFLD.展开更多
Non-alcoholic fatty liver disease(NAFLD) has a prevalence of approximately 30% in western countries, and is emerging as the first cause of liver cirrhosis and hepatocellular carcinoma(HCC). Therefore, risk stratificat...Non-alcoholic fatty liver disease(NAFLD) has a prevalence of approximately 30% in western countries, and is emerging as the first cause of liver cirrhosis and hepatocellular carcinoma(HCC). Therefore, risk stratification emerges as fundamental in order to optimize human and economic resources, and genetics displays intrinsic characteristics suitable to fulfill this task. According to the available data, heritability estimates for hepatic fat content range from 20% to 70%, and an almost 80% of shared heritability has been found between hepatic fat content and fibrosis. The rs738409 single nucleotide polymorphism(SNP) in patatin-like phospholipase domain-containing protein 3 gene and the rs58542926 SNP in transmembrane 6 superfamily member 2 gene have been robustly associated with NAFLD and with its progression, but promising results have been obtained with many other SNPs. Moreover, there has been proof of the additive role of the different SNPs in determining liver damage, and there have been preliminary experiences in which risk scores created through a few genetic variants, alone or in combination with clinical variables, were associated with a strongly potentiated risk of NAFLD, non-alcoholic steatohepatitis(NASH), NASH fibrosis or NAFLD-HCC. However, to date, clinical translation of genetics in the field of NAFLD has been poor or absent. Fortunately, the research we have done seems to have placed us on the right path: We should rely on longitudinal rather than on cross-sectional studies; we should focus on relevant outcomes rather than on simple liver fat accumulation; and we should put together the genetic and clinical information. The hope is that combined genetic/clinical scores, derived from longitudinal studies and built on a few strong genetic variants and relevant clinical variables, will reach a significant predictive power, such as to have clinical utility for risk stratification at the single patient level and even to esteem the impact of intervention on the risk of disease-related outcomes. Well-structured future studies would demonstrate if this vision can become a reality.展开更多
文摘目的:探讨趋化素样因子超家族6(chemokine-like factor-like MARVEL transmembrane domain-containing family member 6,CMTM6)在乳腺癌组织中的表达及其与患者临床病理特征和预后的相关性。方法:选用购自芯超公司的136例乳腺癌组织芯片,其中包括42例配对的癌及癌旁组织,用免疫组织化学染色法检测乳腺癌及癌旁组织中CMTM6的表达水平。用配对χ~2检验比较CMTM6在乳腺癌及癌旁组织中的表达差异,用χ~2检验分析乳腺癌组织中CMTM6表达水平与患者临床病理特征的关系,用Kaplan-Meier及Log rank分析CMTM6表达水平与患者生存期的关系,拟合Cox模型评价不同指标对患者预后的影响程度。结果:CMTM6在乳腺癌组织中的表达水平显著高于癌旁组织(P<0.01)。CMTM6的表达与乳腺癌病理分型和HER2阳性相关(P<0.05)。CMTM6高表达组患者的生存期较CMTM6低表达组显著缩短(P<0.05)。乳腺癌病理分型(HR=10.374,95%CI:3.529~30.497,P<0.01)、TNM分期(HR=4.599,95%CI:1.784~11.856,P<0.01)、三阴性乳腺癌(HR=3.370,95%CI:1.055~10.761,P<0.05)和CMTM6高表达(HR=0.195,95%CI:0.073~0.518,P<0.01)均可作为评判乳腺癌患者预后的独立危险因素。结论:CMTM6在乳腺癌组织中高表达,其可作为乳腺癌患者预后评估的危险因素。
文摘Genetics plays an important role in determining the susceptibility of an individual to develop a disease. Complex, multi factorial diseases of modern day(diabetes, cardiovascular disease, hypertension and obesity) are a result of disparity between the type of food consumed and genes, suggesting that food which does not match the host genes is probably one of the major reasons for developing life style diseases. Non-alcoholic fatty liver is becoming a global epidemic leading to substantial morbidity. While various genotyping approaches such as whole exome sequencing using next generation sequencers and genome wide association studies have identified susceptibility loci for non-alcoholic fatty liver disease(NAFLD) including variants in patatin-like phospholipase domain containing 3 and transmembrane 6 superfamily member 2 genes apart from others; nutrient based studies emphasized on a combination of vitamin D, E and omega-3 fatty acids to manage fatty liver disease. However majority of the studies were conducted independent of each other and very few studies explored the interactions between the genetic susceptibility and nutrient interactions. Identifying such interactions will aid in optimizing the nutrition tailor made to an individual's genetic makeup, thereby aiding in delaying the onset of the disease and its progression. The present topic focuses on studies that identified the genetic susceptibility for NAFLD, nutritional recommendations, and their interactions for better management of NAFLD.
文摘Non-alcoholic fatty liver disease(NAFLD) has a prevalence of approximately 30% in western countries, and is emerging as the first cause of liver cirrhosis and hepatocellular carcinoma(HCC). Therefore, risk stratification emerges as fundamental in order to optimize human and economic resources, and genetics displays intrinsic characteristics suitable to fulfill this task. According to the available data, heritability estimates for hepatic fat content range from 20% to 70%, and an almost 80% of shared heritability has been found between hepatic fat content and fibrosis. The rs738409 single nucleotide polymorphism(SNP) in patatin-like phospholipase domain-containing protein 3 gene and the rs58542926 SNP in transmembrane 6 superfamily member 2 gene have been robustly associated with NAFLD and with its progression, but promising results have been obtained with many other SNPs. Moreover, there has been proof of the additive role of the different SNPs in determining liver damage, and there have been preliminary experiences in which risk scores created through a few genetic variants, alone or in combination with clinical variables, were associated with a strongly potentiated risk of NAFLD, non-alcoholic steatohepatitis(NASH), NASH fibrosis or NAFLD-HCC. However, to date, clinical translation of genetics in the field of NAFLD has been poor or absent. Fortunately, the research we have done seems to have placed us on the right path: We should rely on longitudinal rather than on cross-sectional studies; we should focus on relevant outcomes rather than on simple liver fat accumulation; and we should put together the genetic and clinical information. The hope is that combined genetic/clinical scores, derived from longitudinal studies and built on a few strong genetic variants and relevant clinical variables, will reach a significant predictive power, such as to have clinical utility for risk stratification at the single patient level and even to esteem the impact of intervention on the risk of disease-related outcomes. Well-structured future studies would demonstrate if this vision can become a reality.
