Font Size: a A A

A Study On The Relationship Of Polymorphism Of ACE And ATIR Genes And Essential Hypertension

Posted on:2004-10-27Degree:DoctorType:Dissertation
Country:ChinaCandidate:S L WuFull Text:PDF
GTID:1104360092999739Subject:Internal Medicine
Abstract/Summary:PDF Full Text Request
Objectives: To observe the distributions of angiotensin converting enzyme(ACE) gene I/D polymorphism and angiotensin Ⅱ type 1 receptor (AT1R ) gene A1166C polymorphism in Chinese. To investigate the relationship of polymorphism of ACE or AT1R genes as well as multiple risk factors and essential hypertension.Methods: A total of 1086 subjects were sampled from the workers of Kailuan Coal Mine and surveyed with questionnaire during the period 2000~2001. Hypertension was defined as systolic blood pressure of≧140mmHg and/or diastolic blood pressure of ≧90mmHg or currently under antihypertensive medication. Exclusion criteria included secondary hypertension .In addition to performing routine blood examinations, we extracted DNA from an extra 5 mL of blood . Polymerase Chain Reaction (PCR) and electrophoresis were used to examine the insertion/deletion polymorphism of ACE gene. PCR combined with restriction enzyme digestion, electrophoresis was used to detect the genotypes of AT1R gene. Samples for DNA analysis were obtained from frozen peripheral leukocytes .The I/D polymorphism of the ACE gene was assessed by detecting the presence (allele I, insertion) or absence (allele D, deletion) of the ACE gene with PCR technique and agar electrophoresis . The sense oligonucleotide primer was 5'-CTGGAGACCACTCCCATCCTTTCT-3', and the antisense primer was 5'-GATGTGGCCATCACATTCGTCAGA-3'. These primers enabled us to detect a 490-bp genomic DNA segment corresponding to the insertion allele as well as a 190-bp segment corresponding to the deletion allele. The polymerase chain reaction products were resolved in 2% agarose gels and visualized with ethidium bromide staining. The A1166Cpolymorphism of the AT1 receptor was determined by PCR. The mutation (C) creates a restriction for the enzyme DdeI. The sense oligonucleotide primer was 5'-ATAATGTAAGCTCATCCACC-3', and the antisense primer was 5'-GAGATTGCATTTCTGTCAGT-3'. The sizes of PCR products were 350 and 211 bp,139bp for the 1166A and 1166C alleles, respectively. These products were resolved in a 2% agarose gel and visualized with ethidium bromide staining.7060 Automatic Analyzer was used to obtain biochemical data.Statistical analyses were performed with SPSS 10.0. Values are expressed as mean±SD, The data were analyzed by single factor analysis, stratified analysis ,stepwise and Logistic regression model. A value of P<0.05 was considered statistically significant.Results: (1) The frequencies of different genotypes of ACE and AT1R were in agreement with Hardy-Weinberg equilibrium in our study. (2) The genotypes distribution and allele frequencies of ACE gene I/D polymorphism were II 36.9%, ID 40.6%, DD 22.5%, I 57.3% and D 42.7% respectively. (3) The genotypes distribution and allele frequencies of AT1R gene A1166C polymorphism were AA 76.5%, AC 23.4%, CC 0.1%, A 88.2% and C 11.8% respectively. (4) The genotypes distribution and allele frequencies of ACE gene I/D polymorphism were II 38.9%, ID 36.8%, DD 24.3%, I 57.2% and D 42.8% respectively in men. The genotypes distribution and allele frequencies of ACE gene I/D polymorphism were II 35.2%, ID 44.1%, DD 20.7%, I 57.2% and D 42.8% respectively in women. There were no significant differences in genotypes and allele frequencies of ACE gene I/D polymorphism between men and women. (5) The genotypes distribution and allele frequencies of AT1R gene A1166C polymorphism were AA 75.4%, AC 24.4%, CC 0.2%, A 87.6% and C 12.4% respectively in men. The genotypes distribution and allele frequencies of AT1R gene A1166C polymorphism were AA 77.4%, AC 22.46%, CC 0%, A 88.7% and C 12.4% respectively in women. There were no significant differences ingenotypes and allele frequencies of AT1R gene A1166C polymorphism between men and women. (6) DD genotype and D allele decreased with age in the total population. (7) AC+CC genotype and C allele decreased with age in the total population. (8) The genotype distribution and allele frequency of ACE gene I/D polymorphism in Chinese population were close to those in South Asia, but...
Keywords/Search Tags:essential hypertension, ACE, AT1R, gene, polymorphism, risk factors
PDF Full Text Request
Related items