Genetic risk factors in acute XXXX .

@entity5337 @entity1 @entity556 @entity9769 @entity301 @entity583 @entity21622 @entity1459 @entity10464
OBJECTIVE: We investigate whether each of the following: @entity10464 , @entity5337 , @entity556 gene variant and the @entity21622 reductase gene ( @entity9769 ) mutation, are risk factors for acute @entity301 in Portuguese @entity1 . MATERIAL AND METHODS: 100 blood donors and 52 @entity1 with an established diagnosis of @entity583 or @entity1459 were evaluated for genetic risk factors, by determining @entity10464 genotype, @entity5337 , @entity556 20210 variant and @entity9769 mutation. RESULTS: We found a prevalence of 2.0% for @entity5337 , 5.0% for the @entity556 20210 variant and 66% for the @entity9769 mutation in blood donors. These values are similar to those found in the @entity1 (1.9, 3.8 and 58%, respectively). We found that 28/100 controls had the PI(A2) polymorphism, a frequency statistically different from that in the @entity1 (23/52). This difference was even more pronounced in @entity1 less than 60 years old (27/96 vs. 13/24). CONCLUSION: @entity5337 , @entity556 20210 variant and @entity9769 mutation do not seem to represent risk factors for acute @entity301 . However, the PI(A2) polymorphism could have a role in the pathogenesis of this disease. The presence of multiple genetic factors, more than single ones, could influence the development and outcome of @entity583 and @entity1459 . Larger studies are needed in order to have a better insight into the pathophysiological mechanisms of this disease, along with its prevention and the development of new treatments.
