| Background :In last decade,nonalcoholic fatty liver disease(NAFLD)has attracted more and more attention around the world and became the first chronic common liver disease in Chinese with the increase of global population of obesity and metabolic syndrome,which includes simple fatty liver(SFL),nonalcoholic steatohepatitis(NASH),progressive fibrosis,cirrhosis.The mortality of NAFLD in Chinese adults was approximately 10%-30%.What's more,NAFLD was tightly associated with the development and progress of CAD and other cardiovascular disease.Especially the high morbidity and mortality of NAFLD gradually attracted more and more attention of medicine worldwide.Phosphatidylethanolamine N-methyltransferase(PEMT)has been convincingly showed to synthesize phosphatidylcholine(PC)via PEMT pathway from the methylation of phosphatidylethanolamine(PE)in hepatocyte.The PEMT polymorphism has been confirmed to be tightly associated with the susceptibility of NAFLD.Previous studies proved the adverse effect of PEMT rs7946 and rs729974 gene polymorphisms in the activity of PEMT in hepatocyte.Then the synthesis of PC would be limited immediately as the reduction of PEMT enzyme activity.And the secretion of lower secretion of very low-density lipoprotein(VLDL)in hepatocyte would reduced,which may result in the abnormal disposition of lipid and steatosis in liver.However,there are still many doubts on the mechanism of PEMT pathway to be verified.There is still no study on the role of hereditary factors in the development and progress of NAFLD in Chinese Han people,the association of PEMT rs7946 and rs729974 gene polymorphisms with susceptibility of NAFLD and CAD.Objective: In this article,we aimed at studying the distribution of PEMT rs7946 and rs729974 genotype and allele frequency.And the association between PEMT polymorphisms and the susceptibility of NAFLD and CAD was discussed in the research,which may contribute to the establish of NAFLD early warning system.And we hope that could provide scientific basis for the development and prevention of NAFLD and the complications.Methods: We recruited 143 NAFLD patients,201 CAD patients,119 NAFLD&CAD patients and 257 health controls in the research from December 2017 to December 2018,who have tested in Physical Examination Center or treated in digestive and cardiovascular departments.The basic clinical data were measured and the biochemical parameters were obtained from individuals blood samples.What's more,the sequencing of PEMT rs7946 and rs729974 gene polymorphisms were collected by PCR and tested by MALD-TOFMS.Statistical analyses include the genotype,allele frequencies and the clinical biochemical parameters were performed by SPSS 20.0.Results:(1)There was no difference found in the study across the allele frequencies and genotype of PEMT rs7946 and rs729974 among each two groups(NAFLD,CAD,NAFLD&CAD and controls)(P = 0.300,P = 0.350,P = 0.553)(P = 0.447,P =0.455,P = 0.966).The PEMT rs7946 GA+AA genotype was not found to increase the susceptibility of NAFLD,CAD or NAFLD&CAD(P = 0.181,P = 0.364,P = 0.827).And there was also no obvious difference between PEMT rs729974 GA+AA genotype and GG genotype in each two groups(P = 0.179,P = 0.315),except the genotype among NAFLD&CAD and control group(P = 0.025).(2)Rs7946 A allele carries possessed the elevatory serum high density lipoprotein level in NAFLD group in contrast with non-carriers(P = 0.028).(4)In compared with non-carriers,there was no obvious difference between the serum level of all parameters in NAFLD&CAD group in rs729974 A allele carriers(P > 0.05).(5)The serum level of total bilirubin in control group in rs7946 A allele carries were patently variant comparing with non-carriers(P =0.019).Conclusion: There was no significant link between PEMT rs7946 gene polymorphism and the susceptibility of NAFLD and CAD.PEMT rs729974 gene polymorphism was associated with the progress of CAD&NAFLD patients. |
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