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Distribution of apoe gene Polymorphism and Significance of Auxiliary Diagnosis and Treatment of Cerebrovascular Diseases(Intracerebral Hemorrhage and Cerebral Thrombosis) in the Longyan Area

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Chinese Journal of Biomedical Engineering(English Edition) 2021年第4期30卷 172-177页

作者： ZHANG Hong-bin HE Xiang-sheng YOU Yu-dong FAN Zhi-quan ZHANG Man’e LU Zhi-hua The Second Hospital of Longyan Longyan Fujian Province 364000China

Objective:To make statistics on the distribution of apoe gene polymorphism in the Longyan area,provide data for the statistics of regional cerebrovascular diseases,explore the significance of apoe gene polymorphism distribution for clinical guidance,diagnosis and treatment,and provide more suggestions for clinical diagnosis and treatment of cerebrovascular ***:800 patients with cerebrovascular disease in the Longyan area from July 2018 to April 2021 were selected as the research object,and 800 normal healthy patients were selected as the control *** data were further analyzed according to the collected patient information,and the patients were distinguished according to age and other basic information,the type of cerebrovascular disease,apoe gene polymorphism and blood lipid test *** distribution of apoe gene polymorphism in the cerebrovascular disease population in the Longyan area was given to determine the correlation between the incidence of cerebrovascular disease and the distribution of apoe gene ***:In the study group,E2/E3 genotyping was the most common 400(50.00%),and E4/E4 genotyping 6(0.75%)was the least common;In the control group,E2/E4 genotyping was the most common 480(60.00%),and E2/E3 genotyping accounted for the second 290(36.25%).In the study group,E3 allele was the most common 383(47.88%),E4 allele 121(15.12%);in the control group,E2 allele was the most common391(48.88%),and E3 allele 142(17.75%).Conclusion:According to the statistics of apoe gene polymorphism distribution in the Longyan area and the analysis of the correlation of other cerebrovascular diseases,it is found that E2/E3 genotype may be related to cerebrovascular diseases,and E3 allele may be a susceptibility *** the above analysis,the occurrence of diseases can be predicted and prevented.

关键词： apoe gene treatment polymorphism distribution Longyan area cerebral vascular disease

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Linkage of the cholesterol 7α-hydroxylase gene and low-density lipoprotein cholesterol conditional on apolipoprotein E association: the National Heart, Lung, and Blood Institute Family Heart Study

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Chinese Medical Journal 2005年第5期118卷 362-369页

作者： Jing-PingLin RichardH.Myers LauraAlmasy HilaryH.Coon DonnaK.Arnett YulingHong StevenC.Hunt OfficeofBiostatisticsResearch NationalHeartLungandBloodInstituteNationalInstitutesofHealthSahLakeCityUT84108-3528USA SectionofPreventiveMedicine BostonUniversitvSchoolofMedicineBostonMA02118USA Departmentofgenetics SouthwestFoundationofBiomedicalResearchSanAntonioTX78245-0549USA DepartmentofPsychiatry UniversityofUtahUSA DivisionofEpidemiology UniversityofAlabamaBirminghanAL35294-0022USA AmerieanHeartAssociation NationalCenterDallas.TX75231-5129USA DepartmentofInternalMedicine UniversityofUtahSaltLakeCityUT84108USA

Background genetic factors account for approximately 50% of the individual variation in plasma low-density lipoprotein cholesterol (LDL-C) concentrations in the general population. Several candidate genes have been proposed but their relative contributions to the variance in LDL-C are not known, except for apolipoprotein E (apoe). We report here an investigation of the relationship between LDL-C and cholesterol 7α-hydroxylase (CYP7), as well as apoe and low-density lipoprotein receptor (LDLR), three pivotal genes in LDL metabolism. Methods Our study population included more than 200 nuclear families with increased coronary heart disease (CHD) risk from the National Heart, Lung, and Blood Institute (NHLBI) Family Heart Study. Variance-component linkage methods, a measured genotype approach, and a variance-component linkage analysis conditional on a measured genotype association were used. Results The results showed significant linkage between a genetic determinant of plasma LDL-C concentrations and a polymorphism near CYP7 with its allelic variation accounting for 27% of the total LDL-C variation. There is significant association between plasma LDL-C concentrations and apoe genotypes. Conditional on the apoe association, the total LDL-C variation accounted by allelic variation of a polymorphism near CYP7 was increased *** Our results suggest the apoe and CYP7 may be two important genes accounting for the genetic variation of plasma LDL-C concentrations in a population with cardiovascular diseases.

关键词： linkage analysis CYP7 gene apoe gene low-density lipoprotein cholesterol

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Roles of the Apolipoprotein E gene and Its Polymorphisms in the Etiopathophysiology of Type 2 Diabetes Mellitus and Its Atherosclerotic Complication in Senegalese Females

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Journal of Diabetes Mellitus 2023年第4期13卷 300-324页

作者： Maïmouna Touré Fatou Diallo Agne Amadou Dieng Rokhaya Ndiaye Diallo Lamine Gueye Abdoulaye Samb Laboratoire de Physiologie Humaine et d’Explorations Fonctionnelles Faculté de Médecine de Pharmacie et d’Odonto-Stomatologie (FMPOS) de l’Université Cheikh Anta Diop (UCAD) Dakar Senégal IRL3189 ESS “Environnement-Santé-Sociétés” Centre National de la Recherche Scientifique (CNRS)/Centre National de la Recherche Scientifique et Technologique (CNRST) Bamako-UCAD Dakar Sénégal Laboratoire de Biochimie et de Biologie Moléculaire Faculté de Médecine de Pharmacie et d’Odonto-Stomatologie (FMPOS) de l’Université Cheikh Anta Diop (UCAD) Dakar Sénégal Service de Santé Publique Institut d’Odontologie et de Stomatologie Faculté de Médecine de Pharmacie et d’Odonto-Stomatologie (FMPOS) de l’Université Cheikh Anta Diop (UCAD) Dakar Sénégal Laboratoire de Génétique Pharmaceutique Faculté de Médecine de Pharmacie et d’Odonto-Stomatologie (FMPOS) de l’Université Cheikh Anta Diop (UCAD) Dakar Sénégal

Lipid metabolism disorders would be among the components responsible for the risk of the onset of T2DM and its vascular complications. Apolipoprotein E plays an important role in lipid metabolism. We studied the involvement of the apoe gene in the onset of T2DM and its vascular complications. Clinical and biochemical parameters were assessed in each participant. apoe genotypes were identified by PCR-RFLP. Arterial stiffness was studied using a pOpmetre® which evaluates the pulse wave velocity (ft-PWV). Endothelial dysfunction was studied using an EndoPAT2000® which measures endothelium-dependent vasodilation (RHI). In control subjects, the ε3 allele was associated with an increase in fasting blood glucose (r = 2.36, p = 0.018), and a decrease in LDL cholesterol levels (r = −2.17, p = 0.03), and ε4 was associated with an increase in total cholesterol (r = 2.59, p = 0.01), LDL cholesterol (r = 2.84, p = 0.004), and No-HDL cholesterol (r = 2.74, p = 0.006). In type 2 diabetes subjects, the ε2 was associated with a decrease in diastolic blood pressure (r = −2.25, p = 0.02). The ε3 was associated with a decrease in ft-PWV (r = −2.26, p = 0.024) while the ε4 was associated with an increase in ft-PWV (r = 2.52, p = 0.012). Carrying the ε2ε3 genotype would have in 99% a limited risk of developing T2DM, and in event of T2DM, only 1 to 2% would have a significant risk of developing atherosclerosis, which would be severe in 17%. Of the ε2ε4 genotype, 93% had a limited or even possible risk of developing T2DM, the remaining 7% had a very high risk of developing T2DM. Diabetics carrying ε2ε4 had in 7% very high risk of developing atherosclerosis. The latter had a 20% very high risk of being very severe. Subjects carrying the ε3ε4 genotype had a 67% possible or even probable risk of developing T2DM and in the event of diabetes, there was in 34% very high risk of developing atherosclerosis which will not have even the time to evolve towards severity. For subj

关键词： apoe gene Polymorphisms Type 2 diabetes Mellitus Vascular Dysfunctions

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