title: The rs1800471 Polymorphism of TGFB1 Gene, Serum TGF-Beta1 Level and Chronic Kidney Disease Progression.
abstract: The aim of the study was to investigate whether rs1800471 polymorphism in TGFB1 gene is associated with the development and progression of non-diabetic chronic kidney disease. Moreover, we examined the serum TGF-beta1 concentration and its association with that polymorphism and progression of the disease. We applied two different methodological approaches. Firstly, a family based study was carried out, comprised of 109 patients with non-diabetic chronic kidney disease and their 218 healthy parents, using the transmission/disequilibrium test. The rs1800471 polymorphism and serum TGF-beta1 level were determined in all subjects. Serum TGF-beta1 concentration was also measured in 40 healthy controls. Secondly, we performed a case-control orientated study to determine whether rs1800471 polymorphism and other factors influence the progression of renal impairment. We found no relationships between rs1800471 polymorphism allele transfer and the incidence or progression of non-diabetic chronic kidney disease. We found, however, that the serum TGF-beta1 was significantly higher in patients than in controls. In conclusion, rs1800471 polymorphism in TGFB1 gene does not have an impact on the development and progression of non-diabetic chronic kidney disease caused by primary glomerulopathy and chronic interstitial nephritis. The increased serum TGF-beta1 concentration in such patients suggests its role in the pathomechanism of the disease. Circulating TGF-beta1 level is determined in a multifactorial way, not by rs1800471 polymorphism in TGFB1 gene.
authors.affiliation: Department of Pediatric Nephrology, Wroclaw Medical University, 213 Borowska St., 50-556, Wrocław, Poland, katarzyna.kilis-pstrusinska@umed.wroc.pl.
authors.forename: K
authors.initials: K
authors.lastname: Kiliś-Pstrusińska
authors.forename: A
authors.initials: A
authors.lastname: Mastalerz-Migas
authors.forename: D
authors.initials: D
authors.lastname: Zwolińska
authors.forename: W
authors.initials: W
authors.lastname: Grzeszczak
authors.forename: K
authors.initials: K
authors.lastname: Zachwieja
authors.forename: J
authors.initials: J
authors.lastname: Zachwieja
authors.forename: K
authors.initials: K
authors.lastname: Madziarska
authors.forename: L
authors.initials: L
authors.lastname: Hyla Klekot
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D011110:Polymorphism, Genetic; D051436:Renal Insufficiency, Chronic / Q000097:blood / Q000235:genetics*; D053773:Transforming Growth Factor beta1 / Q000097:blood / Q000235:genetics*
chemical_list: C508960:TGFB1 protein, human; D053773:Transforming Growth Factor beta1