@entity18811 single nucleotide polymorphisms and progression of XXXX .

@entity1 @entity644 @entity8 @entity70815 @entity70814 @entity535 @entity70812 @entity177 @entity18811 @entity631 @entity70813 @entity8157
BACKGROUND: Activating mutations in the @entity18811 ( @entity18811 ) cause autosomal dominant @entity8 ( @entity8 ). @entity18811 expression is upregulated in renal biopsies of @entity1 with @entity8157 ( @entity8157 ) and animal models thereof. In @entity8157 , disease progression is characterized by @entity631 . In addition, a context-dependent @entity18811 overexpression was recently suggested in complement-mediated podocyte injury in e.g. @entity8157 . Hence, we hypothesized that genetic variants in @entity18811 might affect susceptibility to development or progression of @entity8157 . METHODS _ RESULTS: Genomic DNA was isolated from blood samples of 101 @entity8157 @entity1 and 292 controls. By direct sequencing of the entire @entity18811 gene, 13 single nucleotide polymorphisms (SNPs) were identified in the @entity8157 cohort, two of which were causing an @entity535 substitution ( @entity70812 ; @entity70813 and @entity70814 , @entity70815 ). No statistically significant differences in genotypes or allele frequencies between @entity1 and controls were observed. Clinical outcome in @entity1 was determined (remission n=26, @entity177 n=46, persistent @entity644 n=29, follow-up median 80 months {range 51-166}). The 13 identified SNPs showed no association with remission or @entity177 . There were no differences in genotypes or allele frequencies between @entity1 in remission and progressors. CONCLUSIONS: Our data suggest that @entity18811 polymorphisms do not affect susceptibility to @entity8157 , or clinical outcome in @entity8157 .
