Angiotensin-converting enzyme genotype distribution in familial vesicoureteral reflux

Vesicoureteric reflux (VUR) is known to occur in families. In siblings of i ndex patients with VUR, there is a much higher incidence (16% to 46%) than in the general population. The renin-angiotensin system plays an important role in renal development. Recently, it has been reported that angiotensin- converting enzyme (ACE) I/D gene polymorphism is a risk factor for renal pa renchymal damage in patients with congenital urological abnormalities. The aim of this study was to investigate the ACE I/D genotype pattern in famili al VUR patients. Blood samples were obtained from 86 families in which two or more members had VUR. Samples of DNA were extracted from 407 blood sampl es (183 affected patients and 224 non-affected family members). To detect A CE I/D polymorphism, polymerase chain reaction (PCR) amplification was perf ormed using specific primers for the ACE gene. PCR products were electropho resed with 2% agarose gel containing ethidium bromide. Among 224 non-affect ed family members the ACE genotype distribution of DD, ID, and II was 23%; 56% and 21%, respectively. The ACE genotype distribution of 183 affected pa tients was 28%, 47% and 25%, respectively. There was no significant differe nce in ACE I/D distribution between affected patients and their non-affecte d families. Both the ACE genotype distribution of affected patients and tha t of non-affected family members were not significantly different from the previously reported genotype distribution of the normal Caucasian populatio n. This study demonstrates that ACE genotype frequencies are similar in ind ex patients with VUR and their unaffected siblings, thus suggesting that th e ACE gene is not involved in the development of familial VUR.