title: Influence of aldosterone synthase gene C-344T polymorphism on focal segmental glomerulosclerosis.
abstract: OBJECTIVE
  We evaluated the influence of C-344T polymorphism of the aldosterone synthase gene, associated with aldosterone levels and the development of arterial hypertension, on focal segmental glomerulosclerosis (FSGS).
  
  
  METHODS
  We studied 81 patients with primary FSGS followed up for 8.0 ± 12 years. Patients were classified according to their slope of reciprocal serum creatinine into group A (slow progressors, n = 57) and B (fast progressors, n = 24). One hundred healthy volunteers were analysed as controls. The biopsies of n = 50 patients were reviewed and analysed by the same pathologist. C-344T polymorphism was determined by polymerase chain reaction.
  
  
  RESULTS
  The allele frequencies differed significantly between patients (C-allele: 0.55, T-allele: 0.45) and controls (C-allele: 0.45, T-allele: 0.55; P < 0.05). Patients carrying the C-allele tended to have a higher percentage of sclerosed glomeruli (41.8 ± 30% vs 31. 2 ± 19% in TT genotype, ns) and tubulointerstitial fibrosis (22.8 ± 18% vs 16.0 ± 5%, ns). The rate of deterioration of renal function was higher in the CC/CT genotypes (-0.216 ± 0.449 dL/mg per year) compared to the TT genotype (-0.030 ± 0.041 dL/mg per year, P = 0.002). Furthermore, 36.4% of the C-allele carriers and none of the patients with the TT genotype belonged to group B (P = 0.005). C-allele carriers also had a worse kidney survival in the Kaplan-Meier analysis (P = 0.027).
  
  
  CONCLUSIONS
  Our results indicate that aldosterone synthase gene C-344T polymorphism not only acts as a risk factor for the development of FSGS, but also may influence its pathologic appearance and could serve as a marker of disease progression.
authors.affiliation: Department of Nephrology, Heinrich-Heine University of Düsseldorf, Germany.
authors.forename: Christos
authors.initials: C
authors.lastname: Bantis
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Heering
authors.forename: Maria
authors.initials: M
authors.lastname: Stangou
authors.forename: Nicoletta-Maria
authors.initials: NM
authors.lastname: Kouri
authors.forename: Christina
authors.initials: C
authors.lastname: Schwandt
authors.forename: Dimitrios
authors.initials: D
authors.lastname: Memmos
authors.forename: Lars-Christian
authors.initials: LC
authors.lastname: Rump
authors.forename: Katrin
authors.initials: K
authors.lastname: Ivens
mesh_terms: D000328:Adult; D019405:Cytochrome P-450 CYP11B2 / Q000235:genetics*; D018450:Disease Progression; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D005838:Genotype; D005923:Glomerulosclerosis, Focal Segmental / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011379:Prognosis; D012307:Risk Factors; D055815:Young Adult
chemical_list: D019405:Cytochrome P-450 CYP11B2