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Polymorphism of Kibra gene in patients with terminal renal insufficiency
N. Paovica, , D. Bajovic, I. Novakovic
Institute of Human Genetics, Faculty of Medicine, University of Belgrade, Serbia

Aim: The aim of this study was to determine whether there is a difference in frequencies of genotypes and alleles of KIBRA gene polymorphism, rs17070145 between patients with terminal renal insufficiency and normal population.

Introduction: KIBRA gene has a role in signal transmission that regulates apoptosis, proliferation, and movements of the cytoskeleton of cells. Due to its most common expression in kidney and brain, the name of this protein is Kibra (KIdney, BRAin). Polymorphism rs17070145 (substitution of thymine with cytosine in the ninth intron of the gene) is associated with Alzheimer's disease and memory, while its connection with kidney's diseases has not been tested yet. It is thought that allele C is the factor of predisposition in TRI.

Methods: Polymorphism rs17070145 was analyzed with Real Time PCR method using TaqMan probes and 50 people with TRI were involved. Results of gene analysis for the control group were taken from previous research. Frequencies of genotypes and alleles between patients with TRI and healthy examinees was compared with χ2 (chi-square) test.

Results: The frequency of CC genotype among patients with TRI is 76%, CT genotype 22% and TT genotype 2%. Based on frequencies of genotypes, we found that frequency of C allele is 87%, while the frequency of T allele is 13%.

Conclusion: Results of χ2 test show extremely statistically significant difference in frequencies of genotypes and alleles in patients with TRI in comparison with healthy people (P<0.0001). These results indicate that C alleles on locus rs17070145 in KIBRA gene are probably the significant factor of predisposition in the pathogenesis of TRI.1–3

J. Kremerskothen,C. Plaas,K. Buther
Characterization of KIBRA, a novel WW domain-containing protein
Biochem Biophys Res Commun, 300 (2003), pp. 4
K. Dunning,E.M. Schurek,M. Schluter
KIBRA modulates directional migration of podocytes
J Am Soc Nephrol, (2008), pp. 19
Maksimovic N. Analysis of polymorphisms in APOE, BDNF, BCHE and KIBRA genes and their correlation with memory performance in the population of students (Doctoral dissertation). NaRDuS – National Repository of Dissertations in Serbia.

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