| Detail Description |
AGTR1, ACE and ACE2 genes identified twelve haplotype tagging SNPs. Correlation of these SNPs with left ventricular internal diameter in diastole (LVIDd), interventricular septal wall thickness (SWT) and left ventricular mass (LVM) was examined in a large Australian Friedreich ataxia (FRDA) cohort (n=79) with adjustments performed for GAA repeats, age, sex, body surface area and diastolic blood pressure.The AGTR1 polymorphism rs5186 was more common in FRDA patients than in a control population (p=0.002).This functional polymorphism increases expression of AGTR1 by altering the binding site for miR-155, a regulatory microRNA. |