These authors found apparently inconsistent results (as they themselves note), with the Pro25 allele associated with an increased risk of myocardial infarction and a reduced risk of hypertension.
This variant is shown to cause variation in TGFB1 levels, and in chronic hepatitis C patients was shown to associate with progression of hepatic fibrosis.
In a study looking at cleft lip, alveolus, and palate (CLP), only 2/60 patients with CLP (3.3%) carried the Arg25Pro; in the controls 16.7% had Arg25Pro (10/60; p < 0.035), suggesting this variant is protective for CLP.
In a study of Italians, this variant observed seen to be less common in centenarians (5.5% allele frequency) vs younger controls (9.5%), p = 0.028. Centenarians: RR: 154, RP: 17, PP: 1. Younger controls: RR: 200, RP: 46, PP: 1.