Angiotensin II type I receptor gene polymorphism: anthropometric and metabolic syndrome traits

• Published in: Journal of medical genetics 2005-05, Vol.42 (5), p.396-401
• Main Authors: Abdollahi, M R, Gaunt, T R, Syddall, H E, Cooper, C, Phillips, D I W, Ye, S, Day, I N M
• Format: Article
• Language: English
• Subjects: ACE; Adrenal glands; Aged; AGT II; AGTR1; AGTR1 A1166C; AGTR2; Analysis of Variance; angiotensin converting enzyme; angiotensin II; angiotensin II type I receptor; angiotensin II type II receptor; Anthropometry; Base Sequence; Biological and medical sciences; BMI; body mass index; CAD; Cardiology. Vascular system; Cardiovascular disease; Cell growth; coronary artery disease; Deoxyribonucleic acid; Diabetes; diabetic nephropathy; DNA; ethylenediaminetetra-acetic acid potassium salt; Gene Frequency; General aspects. Genetic counseling; Genes; Genetic Testing; Genotype; Haplotypes; Hardy-Weinberg; Heart attacks; Humans; Hypertension; I/D; insertion/deletion; Insulin; Insulin resistance; K-EDTA; Kinases; linkage disequilibrium; Medical genetics; Medical sciences; metabolic and anthropometric traits; Metabolic diseases; Metabolic Diseases - diagnosis; Metabolic Diseases - genetics; Metabolic syndrome; Middle Aged; Miscellaneous; Molecular Sequence Data; OGTT; oral glucose tolerance test; Original; Other metabolic disorders; Polymorphism, Genetic; Proteins; RAS; Receptor, Angiotensin, Type 1 - genetics; Regression Analysis; renin angiotensin system; RNA-binding protein; RNAbp; Rodents; single nucleotide polymorphism; SNP; Syndrome; Thermal cycling; United Kingdom; untranslated region; UTR
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.2004.026716

Background: The renin angiotensin system is important in the regulation of vascular tone and fluid and electrolyte balance. The angiotensin converting enzyme gene (ACE) genotype has been shown to affect exercise response and glucose load response dependent on birth weight. Angiotensin II type I receptor (AGTR1) A1166C has previously been associated with the development of hypertension and coronary disease, but its metabolic effects have not been investigated. Method:AGTR1 A1166C was genotyped by allele specific PCR in 378 individuals from Hertfordshire, UK, who had been characterised for metabolic syndrome traits. Results: Genotype counts were: AA, 183; AC, 170; CC, 25, consistent with Hardy-Weinberg equilibrium. The CC genotype was associated with significantly lower body mass index (by 1.7 units) in men (p = 0.03), and the same magnitude effect in women with significant lower weight in both genders (p = 0.01), also lower waist circumference and waist-hip ratio (p = 0.01) in men, with a trend for lower waist circumference in women also. Additionally, the CC genotype and/or C allele was associated with lower fasting glucose and insulin, and 30 and 120 min glucose in men (respectively, p = 0.08, 0.04, 0.01, 0.06). Lower means of systolic blood pressure, pulse pressure, cholesterol, and fasting triglyceride were also observed for the CC genotype in both genders though these were not statistically significant. Conclusions: The AGTR1 1166 CC genotype appears to predispose to favourable anthropometric and metabolic traits, relative to cardiovascular risk.