{"title":"埃及患者中MTHFR (c677t)和ace (i / d)多态性与高血压和治疗反应的关系","authors":"A. Shafik, K. Hemida, M. Seif-ElNasr, H. Ismail","doi":"10.21608/EJGC.2016.9597","DOIUrl":null,"url":null,"abstract":"Hypertension, a well-known epidemic health disease, is risk factor for various cardiovascular, peripheral vascular and renal diseases. Renin angiotensin system (RAS) being the most important pathogenic mechanism of hypertension is mediated by a key component; the angiotensin converting enzyme (ACE). Moreover, Mutations in the methylenetetrahydrofolate reductase gene (MTHFR) have been established to be associated with the risk of cardiovascular disease as well as hypertension. This case-control study was conducted out to investigate the potential relationship of ACE (I/D) and MTHFR (C677T) gene polymorphisms with hypertension susceptibility and the responsive ability of antihypertensive drugs in Egyptian hypertensive patients. Thirty six patients suffering of high blood pressure were compared with age and sex matching 14 control cases. MTHFR (C677T) and ACE (I/D) polymorphisms were genotyped by polymerase chain reaction (PCR). The demographic and clinical features of patients and control showed no particular significance (p > 0.05) except for the consanguinity and the obesity. For MTHFR polymorphism frequency, total hypertensive cases showed significantly higher frequency rate for the mutant allele 677T compared to controls with a lower frequency of the wild type 677CC genotype. Whereas the mutant 677TC+TT genotypes were not significantly associated with the hypertension risk when compared to the wild genotype among the case group. For ACE gene polymorphism, also showed only higher frequency rates of DD allele. Interestingly, ACE DD genotype showed significant association with blood pressure, obesity and diabetes. Finally in response of the antihypertensive drugs, we found that, the best responsive group is DD genotype group when treated with the ACE inhibitors. These result suggested that the MTHFR polymorphism was not associated with hypertension while the ACE DD genotype may be associated with essential hypertension and considered as a potent risk factor for hypertension and moreover it is the best responsive group when treated with ACE inhibitors in Egyptian patients.","PeriodicalId":31811,"journal":{"name":"Egyptian Journal of Genetics and Cytology","volume":"63 1","pages":"77-88"},"PeriodicalIF":0.0000,"publicationDate":"2016-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"ASSOCIATION OF MTHFR (C677T) AND ACE (I/D) POLYMOR-PHISMS WITH HYPERTENSION AND RESPONSE TO TREAT-MENT AMONG EGYPTIAN PATIENTS\",\"authors\":\"A. Shafik, K. Hemida, M. Seif-ElNasr, H. Ismail\",\"doi\":\"10.21608/EJGC.2016.9597\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Hypertension, a well-known epidemic health disease, is risk factor for various cardiovascular, peripheral vascular and renal diseases. Renin angiotensin system (RAS) being the most important pathogenic mechanism of hypertension is mediated by a key component; the angiotensin converting enzyme (ACE). Moreover, Mutations in the methylenetetrahydrofolate reductase gene (MTHFR) have been established to be associated with the risk of cardiovascular disease as well as hypertension. This case-control study was conducted out to investigate the potential relationship of ACE (I/D) and MTHFR (C677T) gene polymorphisms with hypertension susceptibility and the responsive ability of antihypertensive drugs in Egyptian hypertensive patients. Thirty six patients suffering of high blood pressure were compared with age and sex matching 14 control cases. MTHFR (C677T) and ACE (I/D) polymorphisms were genotyped by polymerase chain reaction (PCR). The demographic and clinical features of patients and control showed no particular significance (p > 0.05) except for the consanguinity and the obesity. For MTHFR polymorphism frequency, total hypertensive cases showed significantly higher frequency rate for the mutant allele 677T compared to controls with a lower frequency of the wild type 677CC genotype. Whereas the mutant 677TC+TT genotypes were not significantly associated with the hypertension risk when compared to the wild genotype among the case group. For ACE gene polymorphism, also showed only higher frequency rates of DD allele. Interestingly, ACE DD genotype showed significant association with blood pressure, obesity and diabetes. Finally in response of the antihypertensive drugs, we found that, the best responsive group is DD genotype group when treated with the ACE inhibitors. These result suggested that the MTHFR polymorphism was not associated with hypertension while the ACE DD genotype may be associated with essential hypertension and considered as a potent risk factor for hypertension and moreover it is the best responsive group when treated with ACE inhibitors in Egyptian patients.\",\"PeriodicalId\":31811,\"journal\":{\"name\":\"Egyptian Journal of Genetics and Cytology\",\"volume\":\"63 1\",\"pages\":\"77-88\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2016-07-14\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Egyptian Journal of Genetics and Cytology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.21608/EJGC.2016.9597\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Egyptian Journal of Genetics and Cytology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.21608/EJGC.2016.9597","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
ASSOCIATION OF MTHFR (C677T) AND ACE (I/D) POLYMOR-PHISMS WITH HYPERTENSION AND RESPONSE TO TREAT-MENT AMONG EGYPTIAN PATIENTS
Hypertension, a well-known epidemic health disease, is risk factor for various cardiovascular, peripheral vascular and renal diseases. Renin angiotensin system (RAS) being the most important pathogenic mechanism of hypertension is mediated by a key component; the angiotensin converting enzyme (ACE). Moreover, Mutations in the methylenetetrahydrofolate reductase gene (MTHFR) have been established to be associated with the risk of cardiovascular disease as well as hypertension. This case-control study was conducted out to investigate the potential relationship of ACE (I/D) and MTHFR (C677T) gene polymorphisms with hypertension susceptibility and the responsive ability of antihypertensive drugs in Egyptian hypertensive patients. Thirty six patients suffering of high blood pressure were compared with age and sex matching 14 control cases. MTHFR (C677T) and ACE (I/D) polymorphisms were genotyped by polymerase chain reaction (PCR). The demographic and clinical features of patients and control showed no particular significance (p > 0.05) except for the consanguinity and the obesity. For MTHFR polymorphism frequency, total hypertensive cases showed significantly higher frequency rate for the mutant allele 677T compared to controls with a lower frequency of the wild type 677CC genotype. Whereas the mutant 677TC+TT genotypes were not significantly associated with the hypertension risk when compared to the wild genotype among the case group. For ACE gene polymorphism, also showed only higher frequency rates of DD allele. Interestingly, ACE DD genotype showed significant association with blood pressure, obesity and diabetes. Finally in response of the antihypertensive drugs, we found that, the best responsive group is DD genotype group when treated with the ACE inhibitors. These result suggested that the MTHFR polymorphism was not associated with hypertension while the ACE DD genotype may be associated with essential hypertension and considered as a potent risk factor for hypertension and moreover it is the best responsive group when treated with ACE inhibitors in Egyptian patients.