ESPN 50th Annual Meeting

ESPN 2017


 
TGFB1 -509C/T polymorphism in congenital uropathies
SPASKA STANILOVA 1 EMILIYA KOSTADINOVA 2 VENECIYA BOTZOVA 3 LYUBA MITEVA 1

1- TRAKIA UNIVERSITY, MEDICAL FACULTY, DEPT MOLECULAR BIOLOGY, BULGARIA
2- TRAKIA UNIVERSITY, MEDICAL FACULTY, DEPT PEDIATRICS, BULGARIA
3- MEDICAL UNIVERSITY PLEVEN, DEPT PEDIATRICS, BULGARIA
 
Introduction:

 In human promoter region of TGFB1 has been described a polymorphism -509C/T (rs1800469) that influences the cytokine production. The aim of the study was to explore the functional significance of TGFB1-509C/T polymorphism for cytokine serum level and genetic predisposition to congenital anomalies of the kidney and urinary tract (CAKUT) among Bulgarian children.

Material and methods:

 The study includes 97 CAKUT patients and 104 controls from Bulgaria. Patients group consist of hypo/dysplasia (n=20); obstructive uropathies (n=36) and VUR (n=41). The TGFB -509C/T polymorphism was determined using the PCR–restriction fragment length polymorphism method.  The quantity of TGFβ1 in sera was detected by ELISA.

Results:

 Genotype distribution of TGFB1-509C/T polymorphism between total group of CAKUT patients and controls was approximately equal (c2=0.571; p=0.75). However, there was a tendency for higher frequency of CC-genotype in VUR cases compared to controls (39% vs. 27%; OR=1.737). In addition, VUR patients with CC-genotype showed significantly higher serum TGFβ1 than TT-genotype (1659.6±203 vs. 1377.5±163pg/ml; p=0.008). In contrast, CC-genotype was less frequent among patients with hypo/dysplasia than controls (10% vs. 27%; OR=0.302). The serum TGFβ1 among patients with hypo/dysplasia across the different genotypes were similar. There was a significant difference in serum TGFβ1 between genotypes among patients with obstructive uropathies. CC and CT genotypes were associated with significantly increased TGFβ1 (1498±253pg/ml and 1535±156pg/ml) than TT-genotype (1198.8±217pg/ml with p=0.045 and p=0.002, respectively).

Conclusions:

 Our data demonstrate that -509*CC genotype in TGFB1 gene is associated with higher cytokine serum level in VUR and obstructive uropathies and might be involved in pathogenesis of these congenital uropathies.