The influence of endothelin-A receptor gene polymorphism on the progression of autosomal dominant polycystic kidney disease and IgA nephropathy.
ADPKD is the most common hereditary renal disease. IGAN is a mesangial proliferative glomerulonephritis characterized by diffuse mesangial deposition of immunoglobulin A. ET-1 has been suggested to be a major disease-promoting factor in renal diseases. The vasoconstrictor effect of ET-1 is mediated by the ET-A receptor. We have investigated the influence of C/T polymorphism in exon 8 of the EDNRA gene. A total number of 193 patients (87 males, 106 females) with ADPKD entered into this study. Patients were divided into three groups: 1. 47 pts with ESRD later than in 63 years (slow progressors), 2. 49 pts with ESRD before 45 (rapid progressors) and 3. 97 pts with ESRD between 45-63 years. Moreover, we examined a group of 153 pts with histologically proven IGAN (116 males, 37 females). Pts were divided into two groups: 1. 79 pts with ERSD during 5 years of the study (IGAN rapid progressors) and 2. 74 patients with normal renal function (IGAN slow progressors). As a control group we used 100 genetically unrelated healthy subjects. The distribution of C/T polymorphism did not significantly differ between rapid and slow progressors of ADPKD and IGAN. The comparison of ESRD ages showed that CC females with ADPKD failed significantly later than CT heterozygotes: CC (57.4 +/- 8.1 years), CT (53.0 +/- 9.1 years) and TT (54.5 +/- 6.4years) (t-test, P = 0.018). To conclude, the CC genotype could be protective in ADPKD females. This genotype was described to be associated with lower pulse pressure.
Reiterová
J
J
Department of Nephrology, Charles University in Prague, 1st Faculty of Medicine, Prague, Czech Republic. jreiterova@seznam.cz
Merta
M
M
Stekrová
J
J
Maixnerová
D
D
Obeidová
H
H
Kebrdlová
V
V
Viklický
O
O
Tesar
V
V
D017677:Age Distribution; D000368:Aged; D018450:Disease Progression; D005260:Female; D005838:Genotype; D005922:Glomerulonephritis, IGA / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D044022:Receptor, Endothelin A / Q000235:genetics*
D044022:Receptor, Endothelin A