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Influence of aldosterone synthase gene C‐344T polymorphism on focal segmental glomerulosclerosis
Author(s) -
BANTIS CHRISTOS,
HEERING PETER J.,
STANGOU MARIA,
KOURI NICOLETTAMARIA,
SCHWANDT CHRISTINA,
MEMMOS DIMITRIOS,
RUMP LARSCHRISTIAN,
IVENS KATRIN
Publication year - 2011
Publication title -
nephrology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.752
H-Index - 61
eISSN - 1440-1797
pISSN - 1320-5358
DOI - 10.1111/j.1440-1797.2011.01497.x
Subject(s) - aldosterone synthase , allele , genotype , medicine , focal segmental glomerulosclerosis , endocrinology , creatinine , aldosterone , renal function , glomerulosclerosis , allele frequency , polymorphism (computer science) , gastroenterology , kidney , glomerulonephritis , biology , gene , proteinuria , genetics , renin–angiotensin system , blood pressure
Aim: 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). Conclusion: 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.