Steatotic liver disease(SLD)encompasses a group of disorders characterized by the excessive accumulation of fat in the liver.It is classified into four categories based on clinical manifestations:Metabolic dysfunction...Steatotic liver disease(SLD)encompasses a group of disorders characterized by the excessive accumulation of fat in the liver.It is classified into four categories based on clinical manifestations:Metabolic dysfunction-associated SLD(MASLD),metabolic-alcohol-associated liver disease(ALD),ALD,and cryptogenic SLD.In the United States,its prevalence stands at 34.2%,making it the most common cause of cirrhosis and hepatocellular carcinoma(HCC).In addition to factors related to endocrine,nutrition,and medications,several genetic markers have been implicated in the disease's pathogenesis.Notable genes include PNPLA3,TM6SF2,GCKR,MBOAT7 and HSD17B13.These genetic polymorphisms can significantly impact prognosis and disease outcomes.For example,PNPLA3 is the most frequently associated gene with MASLD,increasing the risk of HCC by 12-fold and liver-related mortality by 18-fold.Furthermore,certain genetic markers are more prevalent in specific ethnic groups;for instance,PNPLA3 is common among Hispanics,while TM6SF2 is linked to higher fat content in African Americans.With a better understanding of the genetic factors involved in the pathogenesis of SLD,significant advancements have been made in diagnostics and therapeutics.This review explores the role of genetic factors in the disease's development,discusses current advancements in non-invasive diagnostic modalities,and examines therapeutic improvements based on these genetic insights to achieve better outcomes.展开更多
Background： Our previous study showed that 17-beta-hydroxysteroid dehydrogenase 13 （HSD17B13） is down-regulated in hepatocellular carcinoma （HCC）. But its function in HCC remains unknown. This studyaimed to revea...Background： Our previous study showed that 17-beta-hydroxysteroid dehydrogenase 13 （HSD17B13） is down-regulated in hepatocellular carcinoma （HCC）. But its function in HCC remains unknown. This studyaimed to reveal the function of HSD17B13 and its clinical significance in HCC.展开更多
Aim: To identify the correlation between mRNA expression of aromatase, 17β-HSD2 level of TGF-β1 and stage of endometriosis. Methods: Case control study was done on 80 patients divided by 40 endometriosis patients an...Aim: To identify the correlation between mRNA expression of aromatase, 17β-HSD2 level of TGF-β1 and stage of endometriosis. Methods: Case control study was done on 80 patients divided by 40 endometriosis patients and 40 patients as control. mRNA expression of aromatase, mRNA 17β-SD2, was checked using reverse-transcriptase polymerase chain reaction (RT-PCR) and TGF-β1 serum and peritoneal fluid was checked using ELISA. Result: Level of mRNA aromatase from ectopic and eutopic endometrium increased significantly compared to control group (p < 0.001). mRNA 17β-HSD2 expression is significantly lower compared to control (p TGF-β1 on endometriosis group was significantly higher compared to control group (p < 0.05). Level of peritoneal fluid TGF-β1 on endometriosis group was higher than control group (p < 0.001). There are no correlations between mRNA aromatase, type 2 17β-HSD, TGF-β1 serum level to endometriosis stage. There are significant correlations between peritoneal fluid TGF-β1 levels to endometriosis stage.展开更多
文摘Steatotic liver disease(SLD)encompasses a group of disorders characterized by the excessive accumulation of fat in the liver.It is classified into four categories based on clinical manifestations:Metabolic dysfunction-associated SLD(MASLD),metabolic-alcohol-associated liver disease(ALD),ALD,and cryptogenic SLD.In the United States,its prevalence stands at 34.2%,making it the most common cause of cirrhosis and hepatocellular carcinoma(HCC).In addition to factors related to endocrine,nutrition,and medications,several genetic markers have been implicated in the disease's pathogenesis.Notable genes include PNPLA3,TM6SF2,GCKR,MBOAT7 and HSD17B13.These genetic polymorphisms can significantly impact prognosis and disease outcomes.For example,PNPLA3 is the most frequently associated gene with MASLD,increasing the risk of HCC by 12-fold and liver-related mortality by 18-fold.Furthermore,certain genetic markers are more prevalent in specific ethnic groups;for instance,PNPLA3 is common among Hispanics,while TM6SF2 is linked to higher fat content in African Americans.With a better understanding of the genetic factors involved in the pathogenesis of SLD,significant advancements have been made in diagnostics and therapeutics.This review explores the role of genetic factors in the disease's development,discusses current advancements in non-invasive diagnostic modalities,and examines therapeutic improvements based on these genetic insights to achieve better outcomes.
基金supported by grants from General Research Project of Zhejiang Provincial Educational Commission of China(Y201636545)the National Natural Science Funds for Distinguished Young Scholar of China(81625003)+1 种基金Changjiang Scholar Program of Chinese Ministry of EducationMedical and Health Research Projects of Zhejiang Province
文摘Background： Our previous study showed that 17-beta-hydroxysteroid dehydrogenase 13 （HSD17B13） is down-regulated in hepatocellular carcinoma （HCC）. But its function in HCC remains unknown. This studyaimed to reveal the function of HSD17B13 and its clinical significance in HCC.
文摘Aim: To identify the correlation between mRNA expression of aromatase, 17β-HSD2 level of TGF-β1 and stage of endometriosis. Methods: Case control study was done on 80 patients divided by 40 endometriosis patients and 40 patients as control. mRNA expression of aromatase, mRNA 17β-SD2, was checked using reverse-transcriptase polymerase chain reaction (RT-PCR) and TGF-β1 serum and peritoneal fluid was checked using ELISA. Result: Level of mRNA aromatase from ectopic and eutopic endometrium increased significantly compared to control group (p < 0.001). mRNA 17β-HSD2 expression is significantly lower compared to control (p TGF-β1 on endometriosis group was significantly higher compared to control group (p < 0.05). Level of peritoneal fluid TGF-β1 on endometriosis group was higher than control group (p < 0.001). There are no correlations between mRNA aromatase, type 2 17β-HSD, TGF-β1 serum level to endometriosis stage. There are significant correlations between peritoneal fluid TGF-β1 levels to endometriosis stage.
