No associations between rs2030712 and rs7456421 single nucleotide polymorphisms of HIPK2 gene and prevalence of chronic kidney disease. Results of a family-based study

Introduction: Different pathological processes can deteriorate kidney function and cause ireversible degeneration of its structure; however, an optimal way to inhibit or slow down progression of renal damage is unforunately not available. In the light of promissing data concerning homeodomain-interacting protein kinase 2 (HIPK2) upregulation in damaged kidneys animal model, and increased levels of this protein in patients with various kidney diseases, the influence of rs7456421 and rs 2030712 single nucleotide polimorphisms of HIPK2 gene on chronic kidney disease incidence and progression was studied. Material and methods: In 109 family ‘trios’, consisting of an affected child with CKD (48 females and 61 males, mean age 15.5 ±6.45 years) and both his/her parents, using Transmission Disequilibrium Test allele was used for the transfer of aforementioned SNPs from biological parents to their affected offspring. Results: No statistical significance of allele transfer was found, which means that there were no associations between rs7456421 and rs 2030712 SNPs of HIPK2 gene and the incidence of renal dysfunction. Multiple stepwise regression showed a history of chronic glomerulonephritis (OR=17.3), chronic interstitial nephritis without urinary tract defect (OR=4.4), and CT genotype of rs 2030712 SNP (OR=2.6) as determinant of a more rapid progression of renal dysfunction, in contrast to the protective action of body mass index (OR=0.86). Conclusions: On the basis of TDT results, the influence of rs7456421 and rs 2030712 SNPs of HIPK2 gene on prevalence of chronic kidney disease was not identified. Further studies are needed to ascertain the tight relationships of HIPK2 gene polymorphisms with CKD of different etiologies.