Clinical Analysis Of Autoantibodies Against AT₁-receptor And Cardiac Remodeling In Patients With Hypertension

PartⅠCorrelation analysis of autoantibodies against AT1-receptor and cardiac remodeling in patients with hypertensionObjective To investigate the relationship of autoantibodies against AT1 -receptor on cardiac remodeling in primary hypertensive patients.Methods Five hundred and ninety two patients with primary hypertension in our hospital were selected. Autoantibodies against AT1-receptor in serum of primary hypertensive patients were detected by enzyme linked immunosorbent assay (ELISA), and the results of echocardiography were recorded. According to the result of ELISA, the patients were divided into the positive group and negative group. By t-test and Chi-square(χ2) test to compare the differences of blood pressure, course of hypertension, vasoactive substance and echocardiography between the positive group and negative group. By multiple logistic regressions, the influencing factors were analyzed on left ventricular enlargement of hypertension.Results The percentage of autoantibodies against AT1-receptor positive was 38.0%(225/592).The inside diameter of right atrium and left ventriculus in positive group are larger than that in negative group (P=0.049,P=0.044,P<0.05). The results of regression analysis demonstrated that four factors were related to left ventricular enlargement, including autoantibodies against AT1-receptor in the serum, male, diastolic blood pressure and course of hypertension (all P<0.05).Conclusions The autoantibodies against AT1-receptor have a relationship with left ventricular and right atrial enlargement of hypertension.PartⅡInitial study SNP of AGTR1 and autoantibodies against AT1-receptor in primary hypertensive patientsObjective To investigate the relationship of SNP of AGTR1 and autoantibodies against AT1 -receptor in primary hypertensive patients of Han people in Wuhan Hubei area. Methods Autoantibodies against AT1-receptor in serum of primary hypertensive patients were detected by enzyme linked immunosorbent assay (ELISA). According to the result of ELISA, the patients were divided into the positive group and negative group. By ligase detection reaction -polymerase chain reaction to detect six single nucleotial polymorphisms (SNP) of AGTR1. Analyze the difference of SNP between the positive group and negative group through software of SHEsis on line.Results The number of autoantibodies against AT1-receptor positive was 38 and the negative was 28. The polymorphisms were detected on the sites of rs5186 and rs5182. The rs5186 genotype frequencies of AA, AC were 0.789(30/38), 0.211(8/38)in positive group and 0.893(25/28), 0.107(3/28)in negative group. The rs5182 genotype frequencies of AA ,AG, GG were 0.290(11/38), 0.526(20/38), 0.184(7/38)in positive group and 0.286(8/28), 0.536(15/28), 0.178(5/28)in negative group. There were no difference of SNP between the positive group and negative group. It is possible that the two sites were linkage disequilibrium and haplotype were no different between the positive group and negative group.Conclusions rs5186 and rs5182 are probably linkage disequilibrium. The relationship between two polymorphisms and autoantibodies against AT1-receptor needs to be studied further.PartⅢA mutation in CYP17A1 gene causes secondary hypertension-case report and pedigree studyObjective To study the molecular genetic mechanism of secondary hypertension in a family with 17α-hydroxylase deficiency.Methods The proband was hospitalized in Union hospital for diseases of secondary hypertension and was diagnosed as 17α-hydroxylase deficiency according to the clinical presentations, laboratory examination and blood level of steroid hormones. Then blood preparations were collected from the pedigree. PCR and subclone sequencing were performed to detect the mutations of CYP17A1 gene.Results Clinical examination: Proband was 147cm tall and weighed 35 kg and sexual infantilism. Her blood pressure was 160/110 mmHg. Auxiliary examination: Hypokalemia; blood cortisol and urocortisol were decreased; progesterone, FSH and LH were increased; excitatory autacoid was not markedly elevated following ACTH stimulation; Plasma renin activity was decreased, but aldosterone level was normal; skeletal age was immature; congenital absence of uterus; adrenal hyperplasia. Her brother was male pseudohermaphroditism.Gene sequencing: A mutation was identified as a base deletion and a base transversion (TAC/AA) at codon 329 of exon 6. It produced a missense mutation of Tyr→Lys at codon 329 and the open reading frame shift following this codon. The proband, her brother and her father were heterozygote carrying mutation and her mother was normal.Conclusion 17α-hydroxylase deficiency in this family was caused by CYP17A1 mutation(TAC329AA) which was identified as a complex defect of missense mutation and the open reading frame shift. This mutation will cause a special type of secondary hypertension.