Angiotensinogen gene polymorphism near transcription start site and blood pressure - Role of a T-to-C transition at intron I

Molecular variants of the angiotensinogen gene, a key component of the reni n-angiotensin system, are considered genetic risk factors for primary hyper tension. A relation between the angiotensinogen gene locus and hypertension has been found in whites, Japanese, and African Caribbeans but not: in Chi nese. The lack of a consistent association between M235T polymorphism at ex on 2 and hypertension has suggested that another site in linkage disequilib rium with M235T is the causal mutation. We studied the relations among plas ma angiotensinogen concentrations, blood pressure, related clinical variabl es, and mutations of the 5' upstream core promoter region of the human angi otensinogen gene in 274 subjects recruited from our outpatient clinic. We c onfirmed that plasma angiotensinogen concentration was significantly correl ated with A-20C mutation and percent body far and found that systolic and d iastolic blood pressures were significantly correlated with G-GA and T+68C mutations. These results suggest that mutations near the transcription star t site may be associated with increased blood pressure.