BACKGROUND; A significant phenotypical variability is observed in @entity8 ( @entity8 ), the most common @entity8 . @entity2232 ( @entity2232 ) has been suggested to be an important disease-promoting factor of the kidney. @entity17614 ( @entity17614 ) is the main protease responsible for @entity2232 generation by cleavage of its functionally inactive precursor. We examined the influence of the ECE-1b @entity61249 polymorphism on the progression of @entity8 toward @entity454 ( @entity454 ). The A allele was suggested to be associated with higher plasma level of @entity2232 . METHODS: 200 @entity8 @entity1 (107 males, 93 females) who had reached @entity454 were analyzed. @entity1 were divided into three groups: (1) 47 @entity1 (23 males, 24 females) with @entity454 later than in 63 yr (slow progressors); (2) 71 @entity1 (38 males, 33 females) with @entity454 before 45 yr (rapid progressors); and (3) 82 @entity1 (46 males, 36 females) with @entity454 between 45-63 yr. Moreover, we analyzed 160 genetically unrelated healthy Czech subjects as the control group (82 males, 78 females, mean age 51.4 +/- 8.2 yr). DNA samples from collected blood were genotyped for ECE-1b @entity61249 polymorphism using described polymerase chain reaction (PCR) followed by restriction enzyme digestion. We compared the frequencies of different genotypes between the groups of slow and rapid progressors and the ages of @entity454 with regard to different genotypes. RESULTS: The ECE-1b @entity61249 genotype distribution showed no differences among the groups of slow progressors, rapid progressors, @entity8 group with @entity454 between 45-63 yr and control group. Comparing the ages of @entity454 of all @entity1 , we did not find significant differences in the ages with regard to different genotypes: CC (51.5 +/- 10.1 yr), AC (51.6 +/- 11.4 yr), @entity5066 (48.2 +/- 5.9 yr). There was a tendency to lower age of @entity454 in @entity5066 homozygotes in comparison with other genotypes (t-test, p = 0.12). We found no influence of gender. CONCLUSION: We excluded the effect of ECE-1b @entity61249 polymorphism on the progression of @entity8 . We could observe a mild @entity177 in @entity5066 homozygous individuals.

The influence of the XXXX gene polymorphism on the progression of @entity8 .

@entity1 :: ('9606', 'Species') :: ['Patients', 'patients'] @entity8 :: ('MESH:D007674', 'Disease') :: ['ADPKD', 'autosomal dominant polycystic kidney disease', 'renal hereditary disease'] @entity5066 :: ('MESH:C566236', 'Disease') :: ['AA'] @entity2232 :: ('1906', 'Gene') :: ['Endothelin-1', 'ET-1'] @entity17614 :: ('1889', 'Gene') :: ['Endothelin-converting enzyme-1', 'ECE-1'] @entity61249 :: ('c|SUB|C|-338|A', 'DNAMutation') :: ['C-338A'] @entity177 :: ('MESH:D051437', 'Disease') :: ['tendency toward faster decline of renal function'] @entity454 :: ('MESH:D007676', 'Disease') :: ['end-stage renal disease', 'ESRD']
@entity17614 :: (1889,Gene) :: ['endothelin-converting enzyme-1']
