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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.
Factor V Leiden (G1691A FV mutation) is a widely acknowledged risk factor of deep vein thrombosis, including pulmonary embolism as the most serious complication. However, its high prevalence of ~5% in the Caucasian population might be related to an unknown evolutionary advantage. It might exert a beneficial effect on the carrier, e.g. protecting women from excessive bleeding during labour or allowing increased survival in severe sepsis or with other inflammatory diseases. The aim of our study was to verify or contradict the hypothesis of a favourable association between the A allele (A1691) and longevity in the Polish population. For this purpose, the G1691A mutation was analyzed by PCR-RFLP in 1016 Poles: 400 neonates (187 female and 312 male), 184 healthy adults (129 female and 55 male), and 432 long-lived individuals (age ≥ 95 years: 343 women and 89 men). Frequencies of G1691A carriers and the A1691 allele in long-lived individuals (0.2% and 0.1%, respectively) were significantly lower than in neonates (4.2% and 2.2%, respectively) and adults (3.3% and 1.6%). The frequency of the G1691A factor V Leiden mutation decreased with age, which indicates a shorter survival time among A1691 allele carriers in the Polish population.
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